"Epstein-Barr virus associated smooth muscle tumour as an unusual cause of ureteric graft obstruction in a child".

BACKGROUND: Epstein-Barr virus (EBV) is a DNA virus with oncogenic potential, especially in immunocompromised patients. EBV can promote smooth muscle proliferation, resulting in EBV-associated smooth muscle tumors (EBV-SMT). METHODS: We report a case of a 10-year-old child with end-stage renal disease secondary to hypoplastic crossed and fused kidneys who underwent kidney transplantation. EBV serology was unknown for the donor and negative for the recipient; three months after he had a primary EBV infection. Two years after the transplantation, percutaneous nephrostomy was performed because of a drop in the estimated glomerular filtration rate and severe dilatation of the graft. Nephrography showed contrast enhancement of the pelvis of the graft kidney and proximal ureter, with a clear blockage at the level of the mid ureter and no passage towards the bladder. A 1.5-cm tumor was found causing intraluminal compression of the mid ureter. RESULTS: Complete resection of the tumor and distal ureter was performed leaving a short proximal ureter. A tension-free uretero-ureteroanastomoses was achieved using the native ureter. There were no surgical complications. Histologic evaluation showed spindle-shaped muscle cells, moderate pleomorphism, and inflammatory infiltration. Immunohistochemical staining was positive for muscle-specific actin. Epstein-Barr encoding region (EBER) in situ hybridization was positive, confirming the diagnosis of EBV-associated SMT. CONCLUSIONS: EBV-SMT is an exceedingly rare oncological entity that may develop in either the graft or any other organ. The clinical findings are location related. EBV seroconversion following transplantation might be a risk factor for the development of SMT in solid organ recipients.

Kidney transplantation in children with CAKUT and non-CAKUT causes of chronic kidney disease: Do they have the same outcomes?

Almost half the children who undergo kidney transplantation (KTx) have congenital abnormalities of the kidney and urinary tract (CAKUT). We compared patient, graft survival, and kidney function at last follow-up between CAKUT and non-CAKUT patients after KTx. We divided the analysis into two eras: 1988-2000 and 2001-2019. Of 923 patients, 52% had CAKUT and 48% non-CAKUT chronic kidney disease (CKD). Of the latter, 341 (77%) had glomerular disease, most frequently typical HUS (32%) and primary FSGS (27%); 102 had non-glomerular disease. CAKUT patients were more often boys, younger at KTx, transplanted more frequently preemptively, but with longer time on chronic dialysis. They had less delayed graft function (DGF) and better eGFR, but higher incidence of urinary tract infection (1 year post-KTx). In both eras, 1-, 5-, and 10-year patient survival was similar in the groups, but graft survival was better in CAKUT recipients vs those with primary glomerular and primary recurrent glomerular disease: Era 1, 92.3%, 80.7%, and 63.6% vs 86.9%, 70.6%, and 49.5% (P = .02), and 76.7%, 56.6%, and 34% (P = .0003); Era 2, 96.2%, 88%, and 73.5% vs 90.3%, 76.1%, and 61% (P = .0075) and 75.4%, 54%, and 25.2% (P < .0001), respectively. Main predictors of graft loss were DGF, late acute rejection (AR), and age at KTx in CAKUT group and disease relapse, DGF, early AR, and number of HLA mismatches in recipients with glomerular disease. Graft survival was better in CAKUT patients. DGF was the main predictor of graft loss in all groups. Disease recurrence and early AR predicted graft failure in patients with glomerular disease.

Xantogranuloma juvenil solitario congénito: Caso clínico / Solitary and congenital juvenile xanthogranuloma: Case report

El xantogranulomajuvenil es una patología benigna y representa la forma más común de histiocitosis de células no Langerhans. Está caracterizado por la presencia de pápulas o nodulos firmes de coloración rosada o amarillo amarronada, que comprometen, principalmente, la piel y, de forma excepcional, otros órganos. Es una entidad autolimitada con una involución espontánea en los primeros 5 años de vida. Presentamos a una paciente de 1 mes de vida con una lesión congénita en el abdomen, cuya histopatología mostró la presencia de células gigantes multinucleadas de Touton, características de esta patología. Destacamos la presentación infrecuente de este tipo de lesión y la importancia de los múltiples diagnósticos diferenciales que se deben tener en cuenta debido a la edad de la paciente y a sus características.

Juvenile xanthogranuloma is a bening pathology and it represents the most common form of non-Langerhans cell histiocytosis. It is characterized by the presence of papules or firm nodules of a pinkish or yellow-brownish nature, which mainly compromise the skin and, exceptionally, other organs. It is a self-limited entity having a spontaneous regression during the first five years of life. We report the case of a one-month-old patient who presented a congenital tumor in the abdomen, whose histopathology showed the presence of multinucleated giant Touton cells, which are typical of this pathology. We emphasize the rare occurrence of this type of lesion and the importance of the multiple differential diagnosis to be taken into account due to the age of the patient and the characteristics of the lesion.

[Solitary and congenital juvenile xanthogranuloma: case report]. / Xantogranuloma juvenil solitario congénito: caso clínico.

Juvenile xanthogranuloma is a bening pathology and it represents the most common form of non-Langerhans cell histiocytosis. It is characterized by the presence of papules or firm nodules of a pinkish or yellow-brownish nature, which mainly compromise the skin and, exceptionally, other organs. It is a self-limited entity having a spontaneous regression during the first five years of life. We report the case of a one-month-old patient who presented a congenital tumor in the abdomen, whose histopathology showed the presence of multinucleated giant Touton cells, which are typical of this pathology. We emphasize the rare occurrence of this type of lesion and the importance of the multiple differential diagnosis to be taken into account due to the age of the patient and the characteristics of the lesion.

El xantogranuloma juvenil es una patología benigna y representa la forma más común de histiocitosis de células no Langerhans. Está caracterizado por la presencia de pápulas o nódulos firmes de coloración rosada o amarillo amarronada, que comprometen, principalmente, la piel y, de forma excepcional, otros órganos. Es una entidad autolimitada con una involución espontánea en los primeros 5 años de vida. Presentamos a una paciente de 1 mes de vida con una lesión congénita en el abdomen, cuya histopatología mostró la presencia de células gigantes multinucleadas de Touton, características de esta patología. Destacamos la presentación infrecuente de este tipo de lesión y la importancia de los múltiples diagnósticos diferenciales que se deben tener en cuenta debido a la edad de la paciente y a sus características.

Epstein-Barr virus load in transplant patients: Early detection of post-transplant lymphoproliferative disorders / Carga de virus Epstein-Barr en pacientes trasplantados: detección temprana de desórdenes linfoproliferativos postrasplante

High levels of circulating EBV load are used as a marker of post-transplant lymphoproliferative disorders (PTLD). There is no consensus regarding the threshold level indicative of an increase in peripheral EBV DNA. The aim of the study was to clinically validate a developed EBV quantification assay for early PTLD detection. Transversal study: paired peripheral blood mononuclear cells (PBMC), plasma and oropharyngeal lymphoid tissue (OLT) from children undergoing a solid organ transplant with (n = 58) and without (n = 47) PTLD. Retrospective follow-up: 71 paired PBMC and plasma from recipients with (n = 6) and without (n = 6) PTLD history. EBV load was determined by real-time PCR. The diagnostic ability to detect all PTLD (categories 1-4), advanced PTLD (categories 2-4) or neoplastic PTLD (categories 3 and 4) was estimated by analyzing the test performance at different cut-off values or with a load variation greater than 0.5 log units. The higher diagnostic performance for identifying all, advanced or neoplastic PTLD, was achieved with cut-off values of 1.08; 1.60 and 2.47 log EBV gEq/10(5) PBMC or 2.30; 2.60; 4.47 log gEq/10(5) OLT cells, respectively. EBV DNA detection in plasma showed high specificity but low (all categories) or high (advanced/neoplastic categories) sensitivity for PTLD identification. Diagnostic performance was greater when: (1) a load variation in PBMC or plasma was identified; (2) combining the measure of EBV load in PBMC and plasma. The best diagnostic ability to identify early PTLD stages was achieved by monitoring EBV load in PBMC and plasma simultaneously; an algorithm was proposed.

La carga alta del virus Epstein-Barr se utiliza como un marcador de desórdenes linfoproliferativos postrasplante (post-transplant lymphoproliferative disorders [PTLD]). El objetivo de este estudio fue validar clínicamente un ensayo de cuantificación del virus Epstein-Barr para la detección temprana de PTLD. Se efectuó un estudio transversal en el que se analizaron muestras pareadas de células mononucleares periféricas (CMP), de plasma y de tejido linfoide orofaríngeo de niños con trasplante de órgano sólido, con PTLD (n = 58) y sin PTLD (n = 47). En el seguimiento retrospectivo se incluyeron 71 muestras pareadas de CMP y de plasma de trasplantados, con PTLD (n = 6) y sin PTLD (n = 6). La carga viral se determinó por PCR en tiempo real. Se estimó la capacidad diagnóstica para detectar PTLD (categorías: todas vs. avanzadas vs. neoplásicas) analizando diferentes valores de corte o una variación de carga mayor de 0,5 logaritmos. El mayor desempeño diagnóstico para identificar todos los PTLD, los avanzados y los neoplásicos, se obtuvo con valores de corte de 1,08; 1,60 y 2,47 log copias/10(5) en CMP y de 2,30; 2,60 y 4,48 log copias/10(5) en células de tejido linfoide orofaríngeo, respectivamente. La detección del ADN del virus Epstein-Barr en el plasma mostró una especificidad alta, pero una sensibilidad baja (todas las categorías) o alta (categorías avanzadas o neoplásicas) para identificar PTLD. Se observó el desempeño diagnóstico más alto en las siguientes condiciones: 1) al identificar una variación de carga en CMP o en plasma; 2) combinando la medición de la carga viral en CMP y en plasma. La mejor capacidad diagnóstica para identificar las etapas tempranas de los PTLD se logró mediante el seguimiento simultáneo de la carga viral en CMP y en plasma; se propone un algoritmo.

Epstein-Barr virus load in transplant patients: Early detection of post-transplant lymphoproliferative disorders.

High levels of circulating EBV load are used as a marker of post-transplant lymphoproliferative disorders (PTLD). There is no consensus regarding the threshold level indicative of an increase in peripheral EBV DNA. The aim of the study was to clinically validate a developed EBV quantification assay for early PTLD detection. Transversal study: paired peripheral blood mononuclear cells (PBMC), plasma and oropharyngeal lymphoid tissue (OLT) from children undergoing a solid organ transplant with (n=58) and without (n=47) PTLD. Retrospective follow-up: 71 paired PBMC and plasma from recipients with (n=6) and without (n=6) PTLD history. EBV load was determined by real-time PCR. The diagnostic ability to detect all PTLD (categories 1-4), advanced PTLD (categories 2-4) or neoplastic PTLD (categories 3 and 4) was estimated by analyzing the test performance at different cut-off values or with a load variation greater than 0.5log units. The higher diagnostic performance for identifying all, advanced or neoplastic PTLD, was achieved with cut-off values of 1.08; 1.60 and 2.47log EBVgEq/10(5) PBMC or 2.30; 2.60; 4.47loggEq/10(5) OLT cells, respectively. EBV DNA detection in plasma showed high specificity but low (all categories) or high (advanced/neoplastic categories) sensitivity for PTLD identification. Diagnostic performance was greater when: (1) a load variation in PBMC or plasma was identified; (2) combining the measure of EBV load in PBMC and plasma. The best diagnostic ability to identify early PTLD stages was achieved by monitoring EBV load in PBMC and plasma simultaneously; an algorithm was proposed.

Quiste de vallécula congénito en un lactante / Congenital vallecular cyst in an infant

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Anterior segment invasion in retinoblastoma: is it a risk factor for extraocular relapse?

We report a retrospective review of patients with retinoblastoma and anterior segment invasion (ASI) as risk factors for extraocular relapse. Only those with ASI combined with postlaminar optic nerve invasion and/or scleral invasion received adjuvant chemotherapy and those with tumor at the resection margin received orbital radiotherapy. Those with only uveal invasion did not receive adjuvant therapy. Of 479 evaluable patients, 67 patients had pathologically confirmed ASI, including 52 with anterior chamber invasion and 47 with iris or ciliary body invasion. ASI occurred with other pathology risk factors (25 had concomitant posterior uveal invasion, 36 had postlaminar optic nerve invasion, 11 with cut-end invasion, and 25 with scleral invasion). The 5-year disease-free survival (pDFS) was 0.9 (95% CI, 0.8-0.95) for children with ASI with no significant differences among children with other pathology risk factors with and without ASI. ASI was not significantly associated with extraocular relapse in multivariate analysis. There were no significant differences in pDFS for patients with anterior chamber invasion and those with iris-ciliary body invasion (pDFS 0.89 [95% CI, 0.65-0.96] vs. 0.93 [95% CI, 0.61-0.98]). To conclude, ASI was seen with other pathology risk factors and it did not add a significant risk for extraocular relapse.

[Rhabdomyosarcoma of the biliary tree. Case report]. / Rabdomiosarcoma de la vía biliar. Presentación de un caso.

We present a girl 21 months old with recurrent jaundice. Initially she presented fever of unknown origin but jaundice, white coloured stools and pruritus were observed 10 days later. She underwent endoscopic retrograde cholangiopancreatography with sphincterotomy; symptoms dissapeared. One month later, symptoms came back and, suspecting choledochal cyst the patient underwent endoscopic retrograde cholangiopancreatography for diagnostic confirmation and for placement of a biliary stent. The material obtained was sent for histopathology study and embryonal rhabdomyosarcoma of the biliary tree was diagnosed. The patient started chemotherapy following EpSSGRMS 2005 protocol. There was no evidence of metastasis. She completed treatment and to the day of this report she is free of illness.

Rabdomiosarcoma de la vía biliar: Presentación de un caso / Rhabdomyosarcoma of the biliary tree: Case report

Se presenta el caso de una paciente de 21 meses con ictericia recurrente. La consulta inicial se había realizado debido a la aparición de febre de origen desconocido, pero después de 10 días se observó ictericia, acolia y prurito. Se efectuó una colangipancreatografía retrógrada endoscópica con esfnterotomía amplia, con lo que se logró la desaparición de los síntomas. Un mes más tarde, estos reaparecieron, por lo que, con sospecha de que se trataba de un quiste del colédoco, se realizó una nueva colangipancreatografía retrógrada endoscópica para confrmar el diagnóstico y colocar un stent para drenaje de la vía biliar. El material obtenido en el estudio se envió a anatomía patológica y se diagnosticó rabdomiosarcoma embrionario de la vía biliar. Se inició tratamiento con quimioterapia según el protocolo EpSSGRMS 2005. La niña no presentaba metástasis en el momento del diagnóstico. Completó el tratamiento y hasta la fecha de redacción de este trabajo, se encontraba libre de enfermedad.(AU)

We present a girl 21 months old with recurrent jaundice. Initially she presented fever of unknown origin but jaundice, white coloured stools and pruritus were observed 10 days later. She underwent endoscopic retrograde cholangiopancreatography with sphincterotomy; symptoms dissapeared. One month later, symptoms came back and, suspecting choledochal cyst the patient underwent endoscopic retrograde cholangiopancreatography for diagnostic confrmation and for placement of a biliary stent. The material obtained was sent for histopathology study and embryonal rhabdomyosarcoma of the biliary tree was diagnosed. The patient started chemotherapy following EpSSGRMS 2005 protocol. There was no evidence of metastasis. She completed treatment and to the day of this report she is free of illness.(AU)

Rabdomiosarcoma de la vía biliar: Presentación de un caso / Rhabdomyosarcoma of the biliary tree: Case report

Se presenta el caso de una paciente de 21 meses con ictericia recurrente. La consulta inicial se había realizado debido a la aparición de febre de origen desconocido, pero después de 10 días se observó ictericia, acolia y prurito. Se efectuó una colangipancreatografía retrógrada endoscópica con esfnterotomía amplia, con lo que se logró la desaparición de los síntomas. Un mes más tarde, estos reaparecieron, por lo que, con sospecha de que se trataba de un quiste del colédoco, se realizó una nueva colangipancreatografía retrógrada endoscópica para confrmar el diagnóstico y colocar un stent para drenaje de la vía biliar. El material obtenido en el estudio se envió a anatomía patológica y se diagnosticó rabdomiosarcoma embrionario de la vía biliar. Se inició tratamiento con quimioterapia según el protocolo EpSSGRMS 2005. La niña no presentaba metástasis en el momento del diagnóstico. Completó el tratamiento y hasta la fecha de redacción de este trabajo, se encontraba libre de enfermedad.

We present a girl 21 months old with recurrent jaundice. Initially she presented fever of unknown origin but jaundice, white coloured stools and pruritus were observed 10 days later. She underwent endoscopic retrograde cholangiopancreatography with sphincterotomy; symptoms dissapeared. One month later, symptoms came back and, suspecting choledochal cyst the patient underwent endoscopic retrograde cholangiopancreatography for diagnostic confrmation and for placement of a biliary stent. The material obtained was sent for histopathology study and embryonal rhabdomyosarcoma of the biliary tree was diagnosed. The patient started chemotherapy following EpSSGRMS 2005 protocol. There was no evidence of metastasis. She completed treatment and to the day of this report she is free of illness.

Comparison of staging systems for extraocular retinoblastoma: analysis of 533 patients.

IMPORTANCE: Different staging systems for extraocular retinoblastoma have been published, but to date they have not been validated in large cohorts. OBJECTIVE: To review 533 patients (and pathology slides) with retinoblastoma included in 4 protocols (January 1, 1988, to December 31, 2009) who received uniform treatment. DESIGN AND SETTING: Retrospective review in a hospital setting. A critical analysis for detecting inconsistencies and omissions was performed. PARTICIPANTS: Patients were reclassified according to the modified St Jude Children's Research Hospital staging system, Grabowski-Abramson staging system, International Retinoblastoma Staging System (IRSS), and American Joint Committee on Cancer TNM staging system. MAIN OUTCOME AND MEASURE: The main outcome measure was disease-free survival (DFS), considering only extraocular relapse as an event. RESULTS: In the IRSS and the St Jude system, higher stages correlated with poorer DFS. For intraocular disease, only the TNM system and the IRSS included pathological definitions, and all systems except for the IRSS included substages without differences in DFS. Omissions of factors significantly associated with lower DFS included scleral invasion by the TNM system and massive choroidal invasion by the Grabowski-Abramson system. The St Jude system omits postlaminar optic nerve involvement, but this omission did not correlate significantly with lower DFS because these patients received intensive therapy. No differences in DFS were observed among substages for metastatic disease except for the presence of central nervous system involvement. All staging systems had inconsistencies in definitions of extent of disease. No system provides guidelines for imaging. CONCLUSIONS AND RELEVANCE: Only the IRSS and the St Jude system allowed for grouping of patients with increasing risk of extraocular relapse. For lower stages, only the IRSS considers all unequivocal pathological prognostic factors. For higher stages, all systems had redundant information, resulting in an excess of substages.

Detection of minimally disseminated disease in the cerebrospinal fluid of children with high-risk retinoblastoma by reverse transcriptase-polymerase chain reaction for GD2 synthase mRNA.

AIM: To evaluate minimally disseminated disease (MDD) in cytologically negative cerebrospinal fluid (CSF) specimens of patients with high-risk retinoblastoma by the detection of the synthase of ganglioside GD2 mRNA by reverse transcriptase-polymerase chain reaction (RT-PCR). METHODS: The CSF was evaluated in 26 patients with high risk for CSF relapse: 14 with postlaminar optic nerve invasion, five of them with tumour at the resection margin, five with massive choroidal invasion, three with overt orbital extension and four patients with systemic metastasis. Serial CSF examinations were repeated at different time intervals according to stage and in the event of suspected relapse. GD2 synthase mRNA was evaluated by RT and nested PCR at each procedure. RESULTS: MDD was present at diagnosis in six cases (23%) and it was significantly associated to massive optic nerve involvement or history of glaucoma (p<0.05). Three of the children with positive MDD had a CSF relapse. Thirteen patients had negative MDD at diagnosis and one had a CSF relapse. In seven children no ARN could be obtained for PCR analysis and two subsequently relapsed. The probability of CSF relapse was 0.50 (95% confidence interval (CI) 0.13-0.88) for children with MDD and 0.08 (95% CI 0.02-0.46) for those with negative RT-PCR examination of the CSF at diagnosis (p=0.03). CONCLUSIONS: MDD in the CSF detected by RT-PCR for GD2-synthase mRNA occurred in 31.7% of evaluable high-risk children with retinoblastoma with no initial central nervous system (CNS) involvement. It was significantly associated to optic nerve involvement and glaucoma and increased risk of CSF relapse.

Rabdomiosarcoma de la vía biliar. Presentación de un caso. / [Rhabdomyosarcoma of the biliary tree. Case report].

We present a girl 21 months old with recurrent jaundice. Initially she presented fever of unknown origin but jaundice, white coloured stools and pruritus were observed 10 days later. She underwent endoscopic retrograde cholangiopancreatography with sphincterotomy; symptoms dissapeared. One month later, symptoms came back and, suspecting choledochal cyst the patient underwent endoscopic retrograde cholangiopancreatography for diagnostic confirmation and for placement of a biliary stent. The material obtained was sent for histopathology study and embryonal rhabdomyosarcoma of the biliary tree was diagnosed. The patient started chemotherapy following EpSSGRMS 2005 protocol. There was no evidence of metastasis. She completed treatment and to the day of this report she is free of illness.

Outcome of children with retinoblastoma and isolated choroidal invasion.

OBJECTIVES: To evaluate the outcome of children with different degrees of choroidal invasion, to compare different systems for grading the extent of choroidal invasion, and to assess the role of concomitant prelaminar optic nerve and anterior segment invasion as predictors of extraocular relapse. DESIGN: Retrospective analysis of children included in 4 prospective protocols (January 1, 1989, through June 31, 2010). Children with postlaminar optic nerve or scleral involvement and overt extraocular disease were excluded. Adjuvant chemotherapy was not scheduled. All slides were reviewed, and massive involvement was classified according to 3 definitions: (1) extending at least 3 mm in any dimension, (2) through the choroid's whole thickness, and (3) more than 50% of the thickness and/or more than 1 cluster. RESULTS: One hundred sixty-seven children (35 with massive invasion) were studied (136 did not receive adjuvant therapy). The probability of 5-year event-free survival was 98.1% and the probability of overall survival was 98.7% because 1 patient relapsed. Children with massive invasion had a significantly lower event-free survival probability (94.2%) compared with those with focal invasion (99.2%) (P = .04). However, no significant difference was found in overall survival probability (98.7% vs 99.2%; P = .29). No significant effect of other risk factors was found. CONCLUSIONS: Survival was excellent without adjuvant therapy, and no other factors correlated with survival. Children with massive invasion have a higher relapse rate but comparable survival to those with focal invasion provided that aggressive therapy for extraocular relapse is available with adequate safety conditions.