Wilms tumour in a two day old neonate: A rare and challenging case

Wilms tumor or nephroblastoma is the second most common renal tumor occurring in the neonatal age group next to congenital mesoblastic nephroma. The most common age group of presentation of Wilms tumor is between 3 and 4 years of age. Here, we report a case of right-sided Wilms tumor in a 2-day-old neonate. A term-born female baby presented on day 2 of birth with abdominal distension and physical examination revealed a large palpable mass in the right lumbar region crossing the midline. Imaging features were suggestive of a retroperitoneal mass of probable right renal origin. The patient was taken up for right radical nephroureterectomy and Per-operatively, there was anticipated tumor spillage. Post-operative histopathological examination was suggestive of a triphasic Wilms tumor with no anaplasia and favorable histology. The patient was diagnosed with Wilms tumor of the right kidney, COG stage III, SIOP (“International Society of Pediatric Oncology”) intermediate risk. Loss of heterozygosity testing for 1p and 16q was negative. She was started on chemotherapy with a DDA4 regimen. She completed whole abdominal radiotherapy and tolerated treatment well. The child is disease free and is under regular follow-up. This case of neonatal Wilms tumor was indeed a challenge to the pediatric surgeons and the oncologists but the final results were worth the challenge that was faced

Changes of plasma METTL3, WTAP and FTO levels in patients with systemic lupus erythematosus and their correlation with clinical indicators / 中国医师杂志

Objective:To explore the clinical significance of N6-methyladenine (m6A) in systemic lupus erythematosus (SLE) by comparing the changes in plasma levels of m6A modification related proteins [methyltransferase 3 (METTL3), methyltransferase 14 (METTL14), Wilms tumor 1 associated protein (WTAP), AlkB homologous protein 5 (ALKBH5), and fat mass and obesity-associated protein (FTO)] and m6A between patients with systemic lupus erythematosus (SLE) and healthy controls.Methods:A total of 64 SLE patients admitted to the Seventh Affiliated Hospital of Sun Yat-Sen University from May 2020 to June 2022 and 24 healthy volunteers during the same period were selected to compare and analyze the plasma levels of METTL3, METTL14, WTAP, ALKBH5, FTO and m6A between the two groups. The correlation between METTL3, WTAP, FTO levels and clinical indicators was analyzed.Results:The plasma METTL3 level of SLE patients was significantly higher than that of control group ( P<0.05), and the plasma WTAP and FTO levels were significantly lower than those of control group (all P<0.05). In SLE patients, plasma METTL3 level was negatively correlated with hemoglobin level ( r=-0.344, P<0.05), plasma FTO level was positively correlated with plasma IgM level ( r=0.337, P<0.05), and plasma IgA level was negatively correlated with SLE patients ( r=-0.286, P<0.05). The incidence of renal involvement and positive rate of plasma anti-histone antibody were higher in SLE patients with high METTL3 level (all P<0.05). The positive rates of plasma anti-dsDNA antibody, anti-SM antibody and AuaA antibody were higher in SLE patients with low FTO level (all P<0.05). Conclusions:The plasma METTL3 level in SLE patients are significantly increased, while the plasma WTAP and FTO levels are significantly reduced, which are related to various clinical indicators and may be related to the onset of SLE.

Sobrecrecimiento lateral aislado - caracterización auxológica y clínico-radiológica de una cohorte de 76 casos de un único centro / Isolated lateralized overgrowth: clinical, radiological, and auxological characteristics of a single-site cohort of 76 cases

Introducción. El sobrecrecimiento lateral aislado (SLA), antes denominado hemihiperplasia/ hemihipertrofia, se refiere al sobrecrecimiento corporal lateral en ausencia de un patrón reconocible de malformaciones o síndromes genéticos. El objetivo fue analizar el crecimiento y las características clínico-radiológicas de pacientes con SLA en seguimiento en un hospital de tercer nivel en Argentina entre 1993 y 2020. Población y métodos. Estudio retrospectivo, observacional, de una cohorte de pacientes con SLA. Resultados. Se incluyeron 76 casos, 41 varones. Mediana de años de seguimiento: 5,85 (rango intercuartílico [RIC] 2,60-10,96), máximo 15,76 años. Cuarenta y ocho de 76 pacientes presentaron sobrecrecimiento en más de un segmento corporal (SLA complejo). El puntaje Z promedio de peso al nacer de niñas de término con SLA complejo fue +0,51 (desviación estándar [DE] 0,91) (p 0,022). El crecimiento en estatura de la mayoría de los niños se ubicó entre los centilos 50 y 97 de la población de referencia. La mediana de asimetría de longitud de miembros inferiores fue 1,5 cm (RIC 1,01-2,2) en pacientes con tratamiento médico y 3,70 cm (RIC 2,953,98 cm) en aquellos que requiriero epifisiodesis. El 75 % mostró una progresión de la asimetría menor o igual a 2 cm. Ocho casos presentaron asimetría renal mayor o igual a 1 cm; 2 casos presentaron nefroblastoma: edad promedio al diagnóstico 0,75 años. Conclusiones. El crecimiento prenatal de niños con SLA es normal, excepto en niñas con SLA complejo en quienes tiende a estar aumentado. La estatura promedio se ubica en centilos altos con crecimiento normal. Se recomienda realizar cribado de tumores embrionarios en este grupo de niños.

Introduction. Isolated lateralized overgrowth (ILO), formerly referred to as hemihyperplasia/hemihypertrophy, is the overgrowth of one-half of the body to its contralateral in the absence of a recognizable pattern of malformations or genetic syndromes. Our objective was to analyze the growth clinical and radiological characteristics of patients with ILO under follow-up in a tertiary care hospital in Argentina between 1993 and 2020. Population and methods. Retrospective, observational, single cohort study of patients with ILO. Results. A total of 76 cases were included; 41 were males. Median years of follow-up: 5.85 (interquartile range [IQR]: 2.60­10.96), maximum: 15.76 years. Forty-eight of 76 patients had overgrowth compromising more than 1 body segment (complex ILO). The mean birth weight Z-score of term girls with complex ILO was +0.51 (standard deviation [SD]: 0.91) (p 0.022). Most children grew between the 50th and 97th centile of the Argentinian population height reference. The median leg length discrepancy was 1.5 cm (IQR: 1.01­2.2) in patients receiving medical treatment and 3.70 cm (IQR: 2.95­3.98 cm) in those who required epiphysiodesis. Progression of discrepancy ≤ 2 cm was observed in 75% of cases. Renal asymmetry ≥ 1 cm was observed in 8 cases; Wilms tumor was noted in 2 cases: mean age at diagnosis: 0.75 years. Conclusions. Prenatal growth of children with ILO is normal, except in girls with complex ILO, in whom it tends to be increased. The average height of boys and girls tends to be located in high centiles with normal growth over time. Embryonal tumor screening is recommended in this group of children.

Tumor de Wilms en displasia renal multiquística

RESUMEN Introducción: La displasia renal multiquística es una anomalía congénita caracterizada por un riñón afuncional con quistes de diferentes tamaños. Es considerada como una anomalía del desarrollo, aunque se han descrito casos hereditarios. Se ha puntualizado la degeneración maligna de esta displasia, pero su asociación es muy rara. Objetivo: Describir una paciente con tumor de Wilms asociado a una displasia renal multiquística. Presentación del caso: Paciente de sexo femenino y 10 años de edad que los ultrasonidos prenatales no detectaron anomalías del tracto urinario y a los 7 años un estudio ecográfico detectó quistes en el riñón izquierdo. No cumplió el seguimiento clínico y ultrasonográfico indicado y abandonó la consulta; los 10 años asistió al médico por síntomas respiratorios agudos y al palpar el abdomen se comprobó masa en flanco izquierdo de consistencia leñosa, no dolorosa y con contacto lumbar. Se realizó biopsia renal y se diagnosticó tumor de Wilms, se impuso tratamiento citostático y se realizó nefrectomía que confirmó el diagnóstico. Entre los antecedentes familiares se informa un hermano fallecido antes de las 72 horas de nacido por displasia renal multiquística bilateral y madre con nefropatía por reflujo vesicoureteral. Conclusiones: La paciente que se describe reúne tres características raras: un tumor maligno asociado a una displasia renal multiquística, la posibilidad hereditaria por el antecedente del hermano con la displasia bilateral y un tumor de Wilms a los 10 años de edad, lo que demuestra la importancia del seguimiento en estos pacientes.

ABSTRACT Introduction: Multicystic renal dysplasia is a congenital anomaly characterized by an afunctional kidney with cysts of different sizes. It is considered a developmental abnormality, although hereditary cases have been described. The malignant degeneration of this dysplasia has been pointed out, but its association is very rare. Objective: Describe a patient with Wilms tumor associated with multicystic renal dysplasia. Case Presentation: 10-year-old female patient to whom prenatal ultrasounds did not detect urinary tract abnormalities and at age 7 an ultrasound study detected cysts in the left kidney. She did not comply with the indicated clinical and ultrasonographic follow-up and left the consultation; at 10 years old, she attended the doctor for acute respiratory symptoms and when palpating the abdomen there was a mass on the left flank of woody consistency, not painful and with lumbar contact. A renal biopsy was conducted and Wilms tumor was diagnosed; cytostatic treatment was indicated, and a nephrectomy was performed that confirmed the diagnosis. Among the family history is reported a brother who died before 72 hours of birth due to bilateral multicystic renal dysplasia and a mother with nephropathy by vesicoureteral reflux. Conclusions: The described patient has three rare characteristics: a malignant tumor associated with multicystic renal dysplasia, the hereditary possibility due to the sibling's history of bilateral dysplasia, and a Wilms tumor at 10 years of age, which demonstrates the importance of follow-up in these patients.

Wilms or non-Wílms tumors? Imaging features of renal tumors in pediatrics / ¿Tumores de Wilms o no Wilms? Características por imagen de los tumores renales en pediatría

Abstract Introduction: Identifying the imaging features of renal tumors in pediatric population allows reaching more accurate diagnoses and implementing more appropriate treatments. Objective: To describe the imaging findings of renal tumors in children and to assess the association between imaging findings and histological diagnosis of Wilms tumors versus Non-Wilms tumors, and between imaging features and intraoperative rupture of Wilms tumors, as well as the level of agreement between radiological and histological diagnosis (Wilms vs. Non-Wilms tumor). Materials and methods: Cross-sectional study conducted in 47 children with a pathological diagnosis of kidney tumor and treated between 2012 and 2018 in a pediatric hospital in Bogotá D.C., Colombia. The patients' medical records, as well as their ultrasound, tomography and magnetic resonance studies were reviewed. Two univariate logistic regression analyses were performed to assess the association between imaging findings and histopathological diagnosis and between imaging features and intraoperative rupture of Wilms tumors, calculating the respective Odds Ratio (OR) with a 95% confidence interval. In addition, the level of agreement between radiological and histological diagnosis was determined using the Cohen's kappa coefficient. Results: A significant association was found between histological diagnosis of Wilms tumor and the presence of necrosis, tumor enhancement, pseudocapsule, rupture signs, tumor volume and tumor size (OR: 21.6, 15.17, 14.57, 8.21, 7.93, and 4.37, respectively; p<0.05). An association between having Wilms tumors and a lower frequency of metastases was also found (OR: 0.19; p<0.05). The kappa coefficient between radiological diagnosis of Wilms/non- Wilms tumors and histological diagnosis was 0.78 (CI95%: 0.59-0.96; p<0.05). Additionally, Wilms tumors volumen was significantly associated with the occurrence of rupture (OR: 3.08; p<0.05). Conclusions: There are imaging findings such as necrosis, tumor enhancement and tumor volume that can help predict the histological diagnosis of Wilms tumors, as well as perioperative rupture. In addition, a moderate to very good concordance between radiological diagnosis of Wilms/non-Wilms tumors and histological findings was found.

Resumen Introducción. Identificar las características por imagen de los tumores renales en la población pediátrica permite realizar diagnósticos más precisos e implementar tratamientos más apropiados. Objetivo. Describir los hallazgos de imagen de tumores renales en niños y evaluar la asociación entre hallazgos imagenológicos y el diagnóstico histopatológico de tumores de Wilms versus tumores no Wilms, y entre las características de imagen y ruptura quirúrgica de tumores Wilms, así como el grado de concordancia entre el diagnóstico radiológico e histológico. Materiales y métodos. Estudio transversal realizado en 47 niños con diagnóstico patológico de tumor renal atendidos entre 2012 y 2018 en un hospital pediátrico de Bogotá D.C., Colombia. Se revisaron las historias clínicas de los pacientes, así como sus estudios de ultrasonografía, tomografía y resonancia magnética. Se realizaron dos análisis de regresión logística univariados para evaluar la asociación entre hallazgos imagenológicos y diagnóstico histopatológico y entre las características imagenológicas de los tumores de Wilms y ruptura quirúrgica, calculando los respectivos odds ratio (OR) con un intervalo de confianza del 95%. Además, se determinó el grado concordancia entre el diagnóstico radiológico e histopatológico mediante el coeficiente de kappa de Cohen. Resultados. Se encontró una asociación significativa entre el diagnóstico histológico de tumor de Wilms y la presencia de necrosis, realce tumoral, pseudocápsula, signos de ruptura, volumen y tamaño del tumor (OR: 21.6, 15.17, 14.57, 8.21, 7.93 y 4.37, respectivamente; p<0.05). También se observó una asociación entre tener tumores de Wilms y menor frecuencia de metástasis (OR:0.19; p<0.05). El coeficiente de Kappa entre el diagnóstico radiológico de los tumores (Wilms/no-Wilms) y el diagnóstico histológico fue 0.78 (IC95%: 0.59-0.96; p<0.05). Además, el volumen de los tumores de Wilms se asoció significativamente con la ocurrencia de ruptura (OR: 3.08; p<0.05). Conclusiones. Hay hallazgos imagenológicos como la necrosis, el realce tumoral y el volumen tumoral que ayudan a predecir el diagnóstico histológico de tumores de Wilms, así como la ruptura perioperatoria. Además, se observó una muy buena concordancia entre el diagnóstico radiológico de tumores Wilms/no Wilms y los hallazgos histológicos.

Adult wilms tumor with extra-axial cerebral extension: Case report and review of literature

@#Wilms tumor is very rare in adults. Even more infrequent is an adult Wilms tumor with an extensioninto the central nervous system.Reported here is a case of an adult Wilms tumor in a 38-year-old female. She was referred to theJRRMMC with a 2 month history of intermittent hematuria associated with a rapidly enlargingabdominal mass and right-sided facial asymmetry. Abdominal computed tomography revealed a largemass inthe rightkidney. CranialMRI showedmultiple brainmetastases. Thepatient underwentrightradicalnephrectomy.Pathologicalanalysisdemonstratednephroblastoma.Thepatientwasdischargedunremarkable and underwent adjuvant chemotherapy. After 2 months, the patient succumbed to thedisease.Adult Wilms tumor presents almost similarly with renal cell carcinoma and there is no definitivediagnostictesttoconfirmitpre-operatively.Eventhoughit’sararetumor,itshouldalwaysbeincludedin the differential diagnosis for any renal tumor.

Abordaje mínimamente invasivo del tumor de Wilms unilateral: un reporte de caso y revisión de la literatura / Minimally invasive approach to unilateral Wilms tumor: a case report and literature review

Introducción. El tumor de Wilms es la neoplasia abdominal más común en pacientes pediátricos. En la mayoría de los casos se presenta como una masa unilateral indolora en el abdomen. El objetivo de este artículo fue presentar el caso de una paciente de 4 años con tumor de Wilms unilateral derecho manejado con cirugía mínimamente invasiva en el Hospital Universitario del Valle. Métodos. Revisión de la historia clínica e imágenes de la paciente, descripción de la técnica quirúrgica y revisión de la literatura del manejo de tumor de Wilms unilateral. Caso clínico. Paciente femenina de 4 años quien consultó en abril de 2019 por un cuadro clínico de dolor abdominal y sensación de masa en flanco derecho. Se realizó ecografía abdominal donde se encontró imagen nodular heterogénea de contornos definidos en riñón derecho, con riñón izquierdo normal. Se hizo diagnóstico de tumor de Wilms unilateral y se llevó a cirugía mediante abordaje mínimamente invasivo, con buena evolución postoperatoria. Conclusión. La cirugía es el pilar del manejo, y la nefrectomía mediante abordaje laparoscópico para casos seleccionados, en manos entrenadas, tiene la suficiente eficacia, seguridad y cumplimiento de los principios quirúrgicos y oncológicos que provee la cirugía abierta.

Introduction. Wilms tumor is the most common abdominal neoplasm in pediatric patients. In most cases it presents as a painless unilateral mass in the abdomen. The objective of this article was to present the case of a 4-year-old patient with right unilateral Wilms tumor managed with minimally invasive surgery at the Hospital Universitario del Valle. Methods. Review of the patient's clinical history and images, description of the surgical technique and review of the literature on the management of unilateral Wilms tumor.Clinical case. A 4-year-old female patient who consulted on April 4, 2019 with a clinical presentation of abdominal pain and sensation of mass in the right flank. Abdominal ultrasound was performed where a heterogeneous nodular image of defined contours was found in the right kidney, with a normal left kidney. A diagnosis of unilateral Wilms tumor was made and surgery was carried out using a minimally invasive approach, with good postoperative evolution. Conclusion. Wilms tumor is the most common abdominal neoplasm in pediatric patients. The most common presentation is a painless palpable mass. Surgery is the mainstay of management, and nephrectomy using a laparoscopic approach for selected cases, in trained hands, has sufficient efficacy, safety, and compliance with surgical and oncological principles that open surgery provides.

Primary Wilms tumor of the urinary bladder

ABSTRACT Wilms tumor (WT) can occur at various extrarenal sites; however, the urinary bladder as the primary site is occasional. A 4-year-old-female child presented with difficulty in micturition for the past month. The contrast-enhanced magnetic resonance imaging with magnetic resonance (MR) urography revealed a polypoidal, heterogeneous mass in the urinary bladder with no abnormality in the kidneys. Cystoscopy-guided biopsy was reported as an extrarenal Wilms tumor (ERWT) with triphasic components. Post-chemotherapy, a computed tomography scan revealed a residual tumor for which she underwent partial cystectomy. The diagnosis of ERWT was confirmed. She received adjuvant chemotherapy and remained well at the 9th month post completion of chemotherapy. The primary bladder WT must be considered in the differential of a small blue round cell tumor at an extrarenal site in the pediatric age group. The diagnosis is especially challenging in small biopsy material, although it has immense significance in management and prognosis.

Effects of miRNA-373-3p on the proliferation of nephroblastoma cells through targeted regulation of CD44 expression / 肿瘤研究与临床

Objective:To explore the effects of miRNA-373-3p (miR-373-3p) on the proliferation of nephroblastoma G401 cells through targeted regulation of CD44 expression.Methods:Bioinformatic method was used to predict the possible targeted genes of miR-373-3p based on bioinformatic databases including miRDB, miRanda, PITA and DIANA-microT. G401 cells were taken and transfected with miR-373-3p mimic, mimic negative control, miR-373-3p inhibitor or inhibitor negative control, respectively. Cell proliferation ability was detected by using CCK-8 assay. The number of clones was detected by using clone formation assay. The relative expression level of CD44 mRNA was detected by using real-time fluorescent quantitative polymerase chain reaction (qRT-PCR), and the expression level of CD44 protein was detected by using Western blotting. The dual luciferase gene reporter assay was carried out in HEK-293T cells to vertify the target gene of miR-373-3p.Results:Bioinformatic analysis indicated that CD44 was a targeted gene of miR-373-3p. After 24 h transfection, the proliferation activity of G401 cells in miR-373-3p mimic group was decreased compared with that in mimic negative control group (all P < 0.05). After 48 h transfection, the proliferation activity of tumor cells in miR-373-3p inhibitor group was increased compared with that inhibitor negative control group (all P < 0.05). The formed number of clones in miR-373-3p mimic group was reduced compared with that in the mimic negative control group (55.3±2.5 vs. 90.7±2.9), and the difference was statistically significant ( t = 14.57, P < 0.01). The formed number of clones in miR-373-3p inhibitor group was more than that in inhibitor negative control group (115.0±2.7 vs. 92.0±2.4), and the difference was statistically significant ( t = 8.86, P < 0.01). The dual-luciferase gene reporter assay showed that CD44 was a direct targeted gene of miR-373-3p. The relative expression levels of CD44 mRNA in miR-373-3P mimic and mimic negative control group were 0.62±0.03 and 1.00±0.01, respectively, and the difference was statistically significant ( t = 11.28, P < 0.01). The relative expression levels of CD44 mRNA in miR-373-3p inhibitor and inhibitor negative control group were 1.31±0.02 and 1.00±0.00, respectively, and the difference was statistically significant ( t = 12.65, P < 0.01). The CD44 protein expression was decreased in miR-373-3p mimic group, while increased in miR-373-3p inhibitor group. Conclusion:miR-373-3p can inhibit tumor cell proliferation by targeting CD44 in nephroblastoma.

Diagnosis and treatment of nephroblastoma with WAGR syndrome / 中华泌尿外科杂志

Objective:To discuss the diagnosis and treatment 0f WAGR syndrome.Methods:The clinical data of 10 cases of WAGR syndrome children admitted to our hospital from January 2008 to November 2019 were respectively analyzed including the clinical features, diagnosis, and surgical treatments. There were 6 males and 4 females, aged from 13 to 36 months, with an average of 23.6 months. 9 cases were diagnosed as iris absence due to ocular abnormalities in infancy, and 1 case was diagnosed as iris absence due to ocular abnormalities by physical examination because of renal mass. There were 2 boys with cryptorchidism, and 2 boys with hypospadias, 1 of which did not received operation because of mild hypospadias, and another undergoing surgery. There were no abnormality of genitourinary system in the remaining 5 cases. There were 7 cases of unilateral nephroblastoma, with 1 case at the left and 6 cases at the right, and there were 3 cases of bilateral nephroblastoma. Abdominal doppler ultrasound and enhanced abdominal CT were performed for all patients. Abdominal doppler ultrasound indicated solid mass in renal parenchyma or non-uniform echo zone. Abdominal enhanced CT indicated renal tumor with diameter of 1.8 cm-12.7 cm and locally non-uniform enhanced echo. Among the 7 cases of unilateral nephroblastoma, 4 underwent nephrectomy, 1 underwent tumor enucleation, and 2 underwent tumor enucleation for unilateral tumor complicated with nephrogenic rests. There were 3 cases of bilateral nephroblastoma, 2 cases undergoing unilateral tumor enucleation firstly and contralateral tumor enucleation following chemotherapy. One case underwent unilateral tumor nephrectomy followed by contralateral tumor enucleation. One case of unilateral nephrogenic rests did not undergo renal tumor surgery. Preoperative chemotherapy was performed in 7 patients, including 3 bilateral nephroblastoma, 1 unilateral nephroblastoma combined with contralateral nephroblastoma, and 3 unilateral tumors larger enough to pass the midline. The chemotherapy regimen was VCR+ ACTD in 5 cases, VCR+ ACTD+ CTX+ DOX/CDDP+ VP16 and VCR+ CTX+ DOX in another 2 cases respectively.Results:All 10 cases were diagnosed as nephroblastoma. There were 3 patients without preoperative chemotherapy which belongs to COG stageⅠ(1 case) and STAGEⅢ(2 cases); Preoperative chemotherapy was performed in 2 patients with SIOP stage Ⅱ, 2 patients with SIOP stage Ⅲ, and 3 patients with SIOP stageⅤ. Nine children received regular chemotherapy after surgery, among which 1 child in stage Ⅰ received DD4A chemotherapy regimens, 2 children in stage Ⅱ received DD4A and EE4A regimen respectively, and 3 of the 4 children in stage Ⅲ received regular chemotherapy after surgery, including EE4A(1 case)and DD4A(2 cases). EE4A(1 case)and DD4A(2 cases) chemotherapy were performed in 3 patients with stage Ⅴ according to their unilateral tumor stage. Ten cases were followed up, with 9 of the 10 cases having no tumor recurrence or metastasis, and death in 1 case. At present, abdominal doppler ultrasound of 1 child with nephrogenic rests showed no obvious progress. The renal function of 9 children was not significantly abnormal during the regular follow-up. The results of intelligence screening showed that 6 of the 10 patients were significantly behind their peers, and 4 had no obvious abnormality compared with their peers. Gene tests were performed 3 times after surgery, and the results showed the deletion of 11p13 and adjacent distal genes.Conclusions:WAGR syndrome is rare in clinical practice, and renal ultrasound should be monitored after diagnosis to detect renal tumors in early stage. For bilateral cases, renal function should be preserved as long as possible in order to reduce the probability of renal failure. Long-term follow-up of nephroblastoma with this syndrome is particularly important.

Clinical features and prognostic factors of blastemal Wilms tumor / 中华泌尿外科杂志

Objective:To describe the clinical features and analyze the prognostic factors of blastemaltype Wilms tumor. To explore the clinical risk factors affecting the prognosis of blastoma.Methods:Clinical data of 75 patients admitted to the surgery department of Beijing Children's Hospital from January 2008 to June 2020 who were confirmed to be blastemal-type Wilms tumor by postoperative pathology without preoperative chemotherapy. The patients' general information, clinical characteristics, inspection data, surgical methods and follow-up results were collected. The related factors which influences its prognosis were analyzed. Among the 75 patients, 45 cases (60.0%) were male and 30 cases (40.0%) were female. The diagnosis age was 6-144 m, mean age was 39.1 m. Left side: 38 cases (50.7%), right side: 37 cases (49.3%). The clinical manifestations were abdominal mass in 35 cases (46.7%), hematuria in 24 cases (32.0%), abdominal pain in 7 cases (9.3%) and physical examination in 9 cases (12.0%). There were Stage Ⅰ 30 cases, Stage Ⅱ 28 cases, Stage Ⅲ 15 cases, Stage Ⅳ 2 cases. There were preoperative tumor rupture in 5 cases, intraoperative tumor rupture in 2 cases. Clinical stage Ⅰ and Ⅱ were classified as early, while stage Ⅲ, Ⅳ were classified as late. According to COG protocol, stage Ⅰ and Ⅱ patients received EE4A, stage Ⅲ and Ⅳ patients received DD4A protocol and radiotherapy. The number of lymph nodes sampled during operation was more than 7 in 10 patients.Results:7 cases were tested for 1p16q. One case(stage Ⅱ) was absent at 1p/16q LOH, and chemotherapy was upgraded from EE4A to DD4A. After the recurrence of 1 case in clinical stage Ⅰ, the 1p/16q heterozygotic deletion test was performed, which was changed to M regimen chemotherapy. Only 1p lost in one case, and 1p/16q was negative in 4 cases, so the original chemotherapy regimen was maintained. A total of 67 patients were recruited to the study. The median follow-up time was 57 months. The 5-year relapse-free survival(RFS) rate was74.7%, and the 5-year overall survival(OS) rate was 88.0%. Cox multivariate regression analysis showed that: advanced clinical stage ( HR=4.9, 95% CI 1.2-19.6, P=0.025), tumor volume ( HR=1.7, 95% CI 0.4-6.9, P=0.048), and tumor rupture ( HR=20.1, 95% CI 4.7-85.5, P<0.001) were independent risk factors for prognosis of blastoma. Gender, age, side profile, clinical manifestations, tumor embolism, and number of lymph nodes sampled had no significant influence on the survival rate of blastoma ( P>0.05). Conclusion:Advanced stage (Ⅲ-Ⅳ), tumor volume≥1 000 ml, tumor weight and tumor rupture were independent risk factors for relapse. Insufficient lymph node sampling and incomplete 1p16q, may be the reasons for the increased risk of local recurrence in low-stage patients due to the underestimated risk classification and insufficient treatment intensity.

Long term outcome of Wilms' tumor in tertiary care hospital

Background: Nephroblastoma, or Wilms’ tumor, is an embryonal tumor that develops from remnants of the immature kidney. It is the most common renal tumor of childhood. The aim is to analyze the long term outcome in Wilms’ tumor in perplex situations as double moiety and to correlate with multiple organ defects.Methods: It is a combined perspective and retrospective study that pediatric urology outpatient department (OPD) at the Institute of Child Health and Hospital for Children, Madras Medical College, Chennai. The study included patients with Wilms, who attended the pediatric surgery during the ten years, from March 2008 to February 2011. The patients were subjected to detailed clinical examination and relevant investigations were performed.Results: Among patients with stage I–II fumarate hydratase (FH) tumors, the relative risk (RR) of relapse and death were increased for loss of heterozygosity (LOH) 1p only (RR=2.2 for relapse; RR=4.0 for death), for LOH 16q only (RR=1.9 and RR=1.4), and LOH for both regions (RR=2.9 and RR=4.3) in comparison with patients lacking LOH at either locus.Conclusions: Stage I and II have a good prognosis. Stage III and IV need close surveillance since they have a high rate of recurrence. Stage V has a bad prognosis. Stage IV Wilms need lung irradiation. Neoadjuvant chemotherapy reduces tumor spillage in stage III and IV.

Perfil clínico, epidemiológico y terapéutico del tumor de Wilms pediátrico en Costa Rica / Clinical, epidemiological and therapeutic profile of pediatric Wilms tumor in Costa Rica

Resumen Justificación: El tumor de Wilms es el tumor renal maligno más frecuente en pediatría. El manejo terapéutico sigue el principio oncológico de curar la enfermedad mediante cirugía, quimioterapia y radioterapia. Se busca minimizar la toxicidad de los tratamientos. El objetivo del estudio fue describir las características clínicas, epidemiológicas y terapéuticas, con estimaciones sobre la supervivencia de los pacientes con diagnóstico de tumor de Wilms, atendidos en el Servicio de Oncología del Hospital Nacional de Niños "Dr. Carlos Sáenz Herrera", de la Caja Costarricense de Seguro Social, atendidos durante el periodo de enero de 2009 a diciembre de 2016. Métodos: Es un estudio observacional, descriptivo retrospectivo, de una serie de casos de pacientes pediátricos con tumor de Wilms atendidos durante un periodo de 8 años. Se revisó el expediente clínico para disponer de forma retrospectiva de los datos de todos los casos, según las variables de interés. Se aplicó análisis descriptivo de variables cualitativas y cuantitativas, así como para diseñar las curvas de supervivencia de Kaplan-Meier; se complementó con análisis inferencial. Resultados: Durante el periodo se atendió un total de 42 pacientes con este diagnóstico, de los cuales un 59,5 % fueron mujeres. La mayor prevalencia se registró en niños de 2 años o menos (66,7 %). Un 95,2 % de los pacientes presentó resultado de histología favorable; todos los casos con histología desfavorable fueron en mujeres. La intervención quirúrgica más común fue la nefrectomía. Todos los pacientes recibieron quimioterapia y solo el 38,1 % recibió radioterapia. Atribuido a la radioterapia, se reportó vómitos como el principal efecto adverso agudo. La supervivencia global estimada a 3 años fue del 85,6 %, y a 5 años fue del 79,9 %; la supervivencia libre de enfermedad fue del 78,8 % a los 3 y 5 años. Conclusiones: En pacientes pediátricos, el tumor de Wilms es una morbilidad oncológica que alcanza una baja frecuencia; aparece en ambos sexos, aunque con histología más desfavorable en mujeres. Ante este diagnóstico, los pacientes reciben tratamiento con cirugía, quimioterapia y radioterapia; la intervención múltiple ha sido exitosa y la gran mayoría de los pacientes alcanzan una supervivencia prolongada y libre de progresión de enfermedad, a los 5 años, los cuales están más cercanos a lo observado en países de ingresos medios.

Abstract Background: Wilms tumor is the most frequent malignant renal tumor in pediatrics. Therapeutic management follows the oncological principle of curing the disease through surgery, chemotherapy, radiotherapy. It seeks to minimize the toxicity of treatments. The objective of the study was todescribe the clinical, epidemiological and, therapeutic characteristics of patients diagnosed with Wilms tumor, treated at the Oncology Unit of the National Children's Hospital "Dr. Carlos Sáenz Herrera" CajaCostarricense de Seguro Social, during the period from January 2009 to December 2016. Methods: It is a descriptive, observational, retrospective study of one series of cases. The population analyzed were 42 pediatric patients with Wilms tumor for seven years. Medical records were revised retrospectively to collect data about all cases. The statistical analysis used qualitative variables and quantitative variables to descriptive and inferential techniques, and for survival analysis, Kaplan- Meier survival curves were used. Results: During a study period, a total of 42 patients diagnosed with Wilms tumor were studied. 59.5% were women. The prevalence is higher in children 2 years old or younger (66.7%). 95.2% of the patients presented favorable histology; and when discriminated by sex, 100.0% of unfavorable histology were women. The most common surgery was nephrectomy. All patients received chemotherapy and 38.1% radiotherapy. The main acute side effect of radiotherapy was vomiting. The estimated overall survival was 85.6% at 3 years, and 79.9% at 5 years and the disease-free survival was the same as 78.8% at 3 and 5 years. Conclusions: Wilms tumor exhibited low frequency in pediatric patients, in both sexes however bad histology most affected women. The patient received a combination of therapy with surgery, chemotherapy and, radiotherapy; his interventions have success and pediatric patients have longer overall survival and free disease progression survival at 5 years, like results of other average income countries.

Tumor de Wilms: estudio de centro único de Los Andes Ecuatorianos: serie de casos con seguimiento / Wilms' tumor: single center study from the Ecuadorian Andes: case series with follow-up

El Tumor de Wilms (TW) es el tumor renal más frecuente entre los 1 y 5 años de edad. La evidencia existente respecto de aspectos clínicos, terapéuticos y de supervivencia (SV) del TW es escasa. El objetivo de este estudio fue determinar diferencias en la SV actuarial global (SVAG) y SV libre de enfermedad (SVLE) a 5 años en pacientes con TW tratados con quimioterapia neoadyuvante (QTNA) y cirugía inicial (CI). Serie de casos. Se incluyeron pacientes con TW de 11 meses y 13 años de edad, tratados en el Instituto del Cáncer SOLCA, Cuenca (1994-2019). Las variables resultado fueron SVAG y SVLE a 5 años. Otras variables de interés fueron: localización, estadio, histología, seguimiento y remisión completa (RC). Una vez concluidos sus tratamientos, los pacientes fueron sometidos a un seguimiento clínico. Se utilizó estadística descriptiva (medidas de tendencia central y dispersión) y analítica (Chi2, exacto de Fisher y corrección por continuidad). Se realizaron análisis de SV con curvas de Kaplan Meier y log-rank. Se reclutaron 36 pacientes (52,8 % hombres), con una mediana de edad de 44 meses; 55,5 % de ellos tuvieron histología favorable. La localización y estadio más frecuente fue riñón izquierdo (55,5 %) y I (33,3 %) respectivamente. El 58,3 % fueron sometidos a CI y el 41,7 % QTNA. Luego de aplicados los tratamientos 21 pacientes (58,3 %), alcanzaron RC. La SVAG y SVLE general a 5 años fue 72,0 % y 69,0 % respectivamente. Al comparar los subgrupos con QTNA y CI; se verificaron SVAG y SVLE a 5 años de 60,0 % y 81,0 % (p=0,118); y de 66,7 % y 71,4 % (p=0,536) respectivamente. La SVAG y SVLE verificadas son similares a las reportadas en otros estudios. No se evidenciaron diferencias de éstas con los tratamientos QTNA y CI.

Wilms tumor (WT) is the most common pediatric kidney tumor between 1 and 5 years of age. The existing evidence regarding clinical, therapeutic and survival (SV) aspects of TW is scarce. The aim of this study was to determine differences in 5-year overall survival (OS) and 5-year disease-free survival (DFS), in patients treated by WT with neoadjuvant chemotherapy (NACT) and initial surgery (IS). Case series. Patients with TW between 11 months and 13 years of age, treated at SOLCA Cancer Institute, Cuenca, Ecuador (1994-2019) were included. The outcome variables were OS and DFS. Once their treatments were completed, patients were followed clinically. Descriptive (measures of central tendency and dispersion) and analytical (Chi2, Fisher's exact and continuity correction) statistics were applied. SV analysis with Kaplan Meier curves and log-rank were performed. 36 patients (52.8 % men), with a median age of 44 months; 55.5 % of which had favorable histology were recruited. The most frequent location and stage was left kidney (55.5 %) and I (33.3 %) respectively. 58.3 % underwent IC and 41.7 % QTNA. After treatments, 21 patients (58.3 %) achieved complete remission. General OS and DFS were 72.0 % and 69.0 % respectively. When comparing subgroups with QTNA and CI. When comparing the subgroups with QTNA and CI, OS and DFS of 60.0 % and 81.0 % were verified (p=0.118); and of 66.7 % and 71.4 % (p=0.536) respectively. General OS and DFS observed are similar to those reported in other studies. No differences were evidenced with QTNA and CI treatments.

Factores asociados a la sobrevida en pacientes con tumor de Wilms / Factors associated with survival in patient with Wilms tumor

Introducción. El tumor de Wilms es el segundo tumor abdominal más frecuente en la edad pediátrica y responde por más del 90 % de los tumores renales en pediatría. A pesar de que la sobrevida descrita es mayor del 90 %, en nuestro medio encontramos que solo alcanza al 70 %, por lo que deseamos evaluar cuáles son los factores asociados con dichos resultados desfavorables, con el fin de implementar medidas para mejorar la sobrevida de nuestros pacientes. Métodos. Se realizó un estudio observacional, transversal, en dos centros de alto nivel de atención, que incluyó una muestra de 84 pacientes menores de 15 años, con diagnóstico de tumor de Wilms. Resultados. Los factores que se asociaron significativamente con un aumento en la probabilidad de morir fueron: no completar el protocolo de quimioterapia, (OR 34; IC95% 3,7-312; p 0,000) y presentar recidiva tumoral (OR 35,7; IC95% 6,9-184; p 0,000). Otros factores que aumentaron esta probabilidad sin alcanzar a ser significativos, pero mostrando una evidente tendencia fueron: presentación bilateral (OR 4,1; IC95% 0,6-5,5; p 0,147), complicaciones quirúrgicas (OR 3,2; IC95% 0,7-14,6; p 0,136), compromiso de ganglios linfáticos en tomografía (OR 2,4; IC95% 0,7-8,4; p 0,139) y las metástasis a distancia (OR 2,5; IC95% 0,7-9; p 0,143). Discusión. La sobrevida de nuestros niños con tumor de Wilms es menor que la reportada en la literatura mundial, siendo la falla en terminar la quimioterapia, la recidiva y la necesidad de cirugía bilateral, los factores asociados con este desenlace

Introduction. Wilms tumor is the second most frequent abdominal tumor in pediatric age, and it accounts for more than 90% of kidney tumors in pediatrics. Although the described survival is greater than 90%, in our set-ting we find that it only reaches 70%. Our objective was to evaluate the factors associated with these unfavorable results, in order to implement measures to improve the survival of our patients.Methods. An observational, cross-sectional study was conducted in two tertiary medical centers, which included a sample of 84 patients under 15 years of age with a diagnosis of Wilms tumor.Results. The factors that were significantly associated with an increase in the probability of dying were not com-pleting the chemotherapy protocol (OR 34; 95%CI 3.7-312; p 0.000) and presenting tumor recurrence (OR 35.7; 95%CI 6.9-184; p 0.000). Other factors that increased this probability without being significant, but showing an evident trend were: bilateral presentation (OR 4.1; 95%CI 0.6-5.5; p 0.147), surgical complications (OR 3.2; 95%CI 0.7-14.6; p 0.136), lymph node involvement in tomography (OR 2.4; 95%CI 0.7-8.4; p 0.139) and distant metastases (OR 2.5; 95%CI 0.7-9; p 0.143).Discussion. The survival of the children with Wilms tumor in our study was lower than that reported in the world literature, with failure to complete chemotherapy, recurrence and the need for bilateral surgery being the factors associated with this outcome

Clinicopathological Profile of Wilms Tumor of Pediatric Patients in Dr. Sardjito General Hospital, Yogyakarta, Indonesia

@#Introduction: Wilms tumor is the major kidney neoplasm in childhood. Approach to therapy gives a 90% 2-year survival rate. However, the mortality rate in developing countries is relatively still high. Research about the clinicopathological profile of Wilms tumor in Indonesia is very limited. This study aimed to investigate the Wilms tumor patients in an Indonesian setting. Methods: This research was a descriptive observational study using a cross-sectional design. Clinical and pathological data were collected from patients’ medical records in Dr. Sardjito General Hospital, from 2011 to 2016. Results: Twenty-five patients were recruited with 52% female subjects. The mean age at the first diagnosis was 38 months. All patients had unilateral tumors. The tumor size was mostly (67%) equal or more than 10 cm. The most frequent symptom was abdominal mass. Ninety-two percent of patients have favorable histology. Most cases (68%) had triphasic morphology. The most common metastasis site of tumor was the liver, followed by the lung, skeletal bone, and spleen. Eighty-four percent of patients received chemotherapy, 80% received surgery, and 28% received radiotherapy. The gender distribution and the most common metastasis site in this study were different compared to previous studies. Conclusion: The clinicopathological profile of Wilms tumor in Yogyakarta, Indonesia, generally matches with other studies from other countries, except the gender distribution and the most common metastasis site. Further prospective studies regarding the prognosis of the patients are urgently needed.

Comparative analysis of the efficacy and toxicity between WT-2016 and NWTS-5 chemotherapy in the treatment of children with Wilms tumor / 西安交通大学学报(医学版)

Objective To analyze the efficacy and toxicity of WT-2016 regimen by comparing the clinical effects between WT-2016 and NWTS-5 chemotherapy regimens in treating children with Wlims tumor(WT). Methods We reviewed clinical data of children with WT initially treated in Children's Hospital of Chongqing Medical University from January 2014 to February 2019. The staging and classification was determined according to the NWTS standards. The chemotherapy regimen was chosen between WT-2016 or NWTS-5 program. Event free survival (EFS) and overall survival (OS) curves were estimated using the Kaplan-Meier method and compared using the log-rank test. The relapse rate, myelosuppression rate, sepsis rate, and the incidence of pulmonary infection or abnormal liver function were compared using chi-square test. Results Of 116 children, 40 patients were treated with chemotherapy regimen WT-2016 and 76 were treated with chemotherapy regimen NWTS-5. The follow-up duration was 10.8 months (range from 5.8 to 26.6 months) and 39.2 months (range from 4.5 to 66.5 months), respectively. Two-year OS estimate was 86.6% and 88.1% (P=0.64), respectively; two-year EFS estimate was 80.0% and 74.9% (P=0.90), respectively. Overall relapse rate was 7.5% and 25.0% (P=0.02), respectively. The grade myelosuppression rate was 42.5% and 19.7% (P=0.01), respectively. Moreover, the relapse rate in children with low-stage tumors was 7.7% and 16.2% (P=0.77), respectively, and that in high-stage tumors was 7.4% and 33.3% (P=0.03), respectively. The relapse rate in children with non-anaplastic tumors was 9.1% and 22.6% (P=0.18), respectively; that in anaplastic tumors was 0% and 35.7% (P=0.12), respectively. The grade myelosuppression rate in children with low-stage tumors was 23.1% and 0% (P=0.01), respectively; that in high-stage tumors was 51.9% and 38.5% (P=0.28), respectively. The grade myelosuppression rate in children with non-anaplastic tumors was 30.3% and 19.4% (P=0.35), respectively; that in anaplastic tumors was 100% and 21.4% (P<0.01), respectively. In addition, there was no significant difference in the incidence of sepsis, pulmonary infection or abnormal liver function. Conclusion WT-2016 chemotherapy regimen is associated with significantly decreased relapse rate and increased incidence of myelosuppression in children with WT campared with NWTS-S regimen.

Intra-tumor genetic heterogeneity in Wilms tumor samples

SUMMARY Childhood renal tumors account for ~7% of all childhood cancers, and most cases are embryonic Wilms' tumors (WT). Children with WT are usually treated by either COG or SIOP. The later treats the children using preoperative chemotherapy, but both have around 90% of overall survival in five years. WT is a genetically heterogeneous group with a low prevalence of known somatic alterations. Only around 30% of the cases present mutation in known genes, and there is a relatively high degree of intra-tumor genetic heterogeneity (ITGH). Besides potentially having an impact on the clinical outcome of patients, ITGH may interfere with the search for molecular markers that are prospectively being tested by COG and SIOP. In this review, we present the proposal of the current UMBRELLA SIOP Study 2017/Brazilian Renal Tumor Group that requires the multi-sampling collection of each tumor to better evaluate possible molecular markers, as well as to understand WT biology

RESUMO Os tumores renais pediátricos correspondem a aproximadamente 7% de todos os tumores infantis, sendo o mais frequente o tumor de Wilms (TW). Crianças com TW são geralmente tratadas seguindo dois distintos protocolos terapêuticos (COG ou SIOP), sendo que no último, os pacientes recebem tratamento quimioterápico pré-operatório. Ambos apresentam sobrevida global em cinco anos em torno de 90%. TW é geneticamente heterogêneo, apresentando baixa prevalência de alterações somáticas conhecidas, com cerca de 30% dos casos apresentando mutações em genes conhecidos e um alto grau de heterogeneidade genética intratumoral (HGIT). Além de potencialmente ter um impacto sobre o desfecho clínico dos pacientes, a HGIT pode interferir na busca de marcadores moleculares que estão sendo testados prospectivamente pelos grupos COG e Siop. Nesta revisão, apresentamos a proposta do atual estudo Umbrella Siop 2017/Grupo de Tumores Renais Brasileiros (GTRB), que orienta a coleta de três diferentes regiões do tumor para melhor avaliar possíveis marcadores moleculares, bem como para compreender a biologia do TW.

Perfil clínico e radiológico de pacientes com tumor de wilms em um hospital pediátrico do sul do Brasil, 2010­2017 / Clinical and radiological profile of patients with wilms tumor in a pediatric hospital in the south of Brazil, 2010­2017

O tumor de Wilms, também denominado nefroblastoma, é o tumor maligno abdominal mais comum na infância. O objetivo do estudo foi descrever o perfil clinico e radiológico dos pacientes com diagnóstico de tumor de Wilms internados no Hospital Infantil Joana de Gusmão, Florianópolis/SC. Trata-se de um estudo descritivo, realizado durante o período de janeiro de 2010 a dezembro de 2017, que incluiu 33 pacientes com o diagnóstico de tumor de Wilms. Os dados foram analisados no programa Statistical Package for the Socials Sciences. Version 18.0. As variáveis categóricas foram expressas em frequência (simples e relativa). Observou-se que a maioria dos pacientes era do sexo masculino (57,6%), com idade do diagnóstico entre 3 e 5 anos (45,5%), procedentes da Grande Florianópolis (45,5%). Entre os dados clínicos encontrou-se massa abdominal (78,8%), dor (51,1%) e acometimento do rim direito (60,6%). O estadiamento International Society of Paediatric Oncology no estágio III (37,5%) e tipo histológico favorável (87,5%). Nos estudos de imagem tomográfica o tamanho longitudinal >10 cm (71,4%), tamanho antero-posterior entre 5 e 10 cm (53,6%), acometimento de veia cava inferior (3%), calcificações (6,1%) metástase hepática (12,1%) e pulmonar (9,1%). O estudo possibilitou traçar o perfil clinico e radiológico dos pacientes com tumor de Wilms do Hospital Infantil Joana de Gusmão e verificou a similaridade com os resultados encontrados na literatura.

Wilms tumor, also called nephroblastoma, is the most common abdominal malignancy in childhood. This research aims to describe the clinical and radiological profile of patients diagnosed with Wilms tumor hospitalized at Joana de Gusmão Children's Hospital, in Florianópolis-Santa Catarina. This is a descriptive study, conducted from January 2010 to December 2017, carried out with 33 patients diagnosed with Wilms tumor. The data were analyzed with the SPSS 18.0 program. Categorical variables were expressed in simple and relative frequency. It was observed that most patients were male (57.6%), aged, when diagnosed, between 3 and 5 (45.5%), coming from the Greater Florianópolis (45.5%). Clinical data included abdominal mass (78.8%), pain (51.1%) and involvement of the right kidney (60.6%). Stage III International Society of Paediatric Oncology staging (37.5%) and favorable histological type (87.5%). In tomographic imaging studies, the longitudinal size was >10 cm (71.4%), anteroposterior size between 5 and 10 cm (53.6%), inferior vena cava involvement (3%), calcifications (6.1 %) hepatic (12.1%) and pulmonary (9.1%) metastasis. The study enabled the researchers to trace the clinical and radiological profile of patients with Wilms tumor of the Joana de Gusmão Children's Hospital and verified the similarity with the results found in the literature.

Síndrome WAGR por deleción en heterocigosis del gen WT1: Caso clínico pediátrico / WAGR syndrome by heterozygous deletion of the WT1 gene: Pediatric case report

El síndrome WAGR (tumor de Wilms, aniridia, anomalías genitourinarias y retraso mental) es un trastorno genético infrecuente debido a la deleción de la región 11p13, que contiene los genes WT1 y PAX6. Comprende una combinación distintiva de afecciones clínicas; la aniridia y el tumor de Wilms son las más notables. Se presenta a un lactante de 17 meses con microcefalia, alteraciones oculares (buftalmos, leucocoria, aniridia bilateral), hipoplasia escrotal, testículos en la región inguinal y retraso en el neurodesarrollo, a quien se le realizó el estudio de amplificación de sondas dependiente de ligandos múltiples para WT1, que mostró haploinsuficiencia en las sondas que hibridaban la región 11p13, compatible con una deleción en heterocigosis del gen. Posteriormente, se diagnosticó tumor de Wilms. Dada su baja prevalencia, es importante difundir sus características clínicas y hacer énfasis en un manejo interdisciplinario centrado en la identificación precoz del síndrome y de sus posibles complicaciones. .

WAGR syndrome (Wilms tumor, aniridia, genitourinary anomalies and mental retardation) is an uncommon genetic disorder due to the deletion of the 11p13 region that contains the WT1 and PAX6 genes. It involves a distinctive combination of clinical conditions, with aniridia and Wilms tumor being the most notable. We present a 17-month-old infant with microcephaly, ocular alterations (buphthalmos, leukocoria, bilateral aniridia), scrotal hypoplasia, undescended testes and neurodevelopmental delay who underwent multiplex ligation-dependent probe amplification study for WT1, showing haploinsufficiency in the probes that hybridize to the 11p13 region, compatible with an heterozygous deletion of the gene. Wilms tumor was later diagnosed. WAGR syndrome is infrequent; its report in Latin America is low. It is important to disseminate its clinical characteristics, emphasizing an interdisciplinary management focused on the early identification of both the syndrome and its possible complications.