Cáncer Gástrico Bifocal con Linfonodos Negativos en un Paciente con Cirrosis Hepática / Bifocal Gastric Cancer with Negative Lymph Nodes in a Hepatic Cirrhosis Patient

El cáncer gástrico (CG), es la primera causa de muerte por cáncer, en hombres, y la tercera en mujeres, en Chile. No obstante ello, el CG bifocal (CGB) es una situación poco frecuente. El objetivo de este manuscrito fue reportar un caso de CGB, con linfonodos negativos en un paciente con cirrosis hepática, que fue intervenido quirúrgicamente; y revisar la evidencia existente respecto de sus características morfológicas, terapéuticas y pronósticas. Caso clínico: Hombre de 74 años diabético, hipertenso, insuficiente cardíaco y cirrótico; portador de CGB (subcardial y antro-pilórico), diagnosticado por endoscopia y con confirmación histológica de ambas lesiones; operado en Clínica RedSalud Mayor Temuco en septiembre de 2023. En el intraoperatorio se verificó además la coexistencia de una lesión de aspecto metastásico en el segmento III del hígado, y adhesión de la región antro-pilórica a la vesícula biliar. Se realizó gastrectomía total, linfadenectomía D2, esófago-yeyuno anastomosis término-lateral, resección segmentaria hepática (segmento III) y colecistectomía. El paciente permaneció 6 días en la UCI debido a que desarrolló insuficiencia hepática (encefalopatía leve y ascitis). Se alimentó vía enteral por sonda naso-yeyunal. Posteriormente inició alimentación oral progresiva, la que fue bien tolerada. Completó 11 días de hospitalización en servicio médico-quirúrgico, donde mejoró actividad neurológica, hasta su alta domiciliaria. Actualmente, lleva dos meses desde su operación, se encuentra en buenas condiciones generales, y el Comité Oncológico decidió no dar quimioterapia adyuvante. Se presenta un caso inusual de CG de tipo bifocal, respecto de lo cual hay escasa información disponible. Se logró realizar cirugía con intención curativa en un paciente de alto riesgo, con un resultado exitoso.

SUMMARY: Gastric cancer (GC) is the first cause of death from cancer in men, and the third one in women, in Chile. However, a bifocal GC (BGC) is uncommon. The aim of this study was to report a case of CGB, with negative-lymph nodes in a patient with liver cirrhosis, who underwent surgery; and review the existing evidence regarding its morphological, therapeutic and prognostic characteristics. Clinical case: A 74-year-old male patient with a medical history of diabetes, hypertension, congestive heart failure, and cirrhosis underwent surgical intervention for GC located in subcardial and antro- pyloric regions. The diagnosis was established via endoscopy and confirmed histologically. Surgery was performed at the RedSalud Mayor Temuco Clinic in September 2023. During intraoperative assessment, the coexistence of a lesion with metastatic-like characteristics in segment III of the liver was also verified, along with adhesions between the antro-pyloric region and the gallbladder. Surgical approach encompassed total gastrectomy, D2 lymphadenectomy, esophago-jejunostomy, segmental hepatic resection, and cholecystectomy. Subsequently, the patient required a six-day stay in ICU due to the development of hepatic insufficiency, characterized by mild encephalopathy and ascites. Enteral nutrition was administered via a naso-jejunal tube, followed by a gradual transition to oral feeding, which was well-tolerated. The patient completed an 11-day hospitalization period in the medical-surgical ward, during which his neurological function improved significantly, resulting in his discharge. At present, 2 months post-surgery, the patient remains in satisfactory general health, and the Oncology Committee decided not to proceed with adjuvant chemotherapy. This case represents a rare instance of bifocal GC, for which there is limited available literature. Surgical intervention with curative intent was successfully carried out in a high-risk patient, yielding a positive outcome.

Triple primario oncológico y su impacto en el dolor. Reporte de caso / Triple primary malignancy and its impact on pain. A case report

Introducción: Los pacientes con cáncer presentan dolor en un 40% y el 38% de ellos lo califica como moderado a intenso. Casi el 85% de los pacientes con dolor por cáncer pueden lograr un buen control con medicamentos orales convencionales. Caso clínico: masculino de 57 años con triple neoplasia maligna primaria metacrónica asociada a tres tipos de dolor con incremento progresivo de la intensidad y requerimiento de varias líneas de tratamiento analgésico opioide. Conclusión: Las neoplasias malignas primarias triples son infrecuentes y están asociadas a dolor complejo, siendo los opioides la opción terapéutica más adecuada.

Introduction: Pain is an unpleasant sensory and emotional experience associated with real or potential tissue damage, which treatment is more difficult in patients with multiple and advanced cancer, influencing their functionality, mood, sleep, and quality of life. Clinical case: 57-year-old male with metachronous triple primary malignancy associated with three types of pain with a progressive increase in intensity and requiring several lines of opioid analgesic treatment. Conclusion: Triple primary malignancies are uncommon and primarily associated with complex pain; opioids are the most appropriate therapeutic option.

Condroma pulmonar y paraganglioma carotídeo como manifestaciones de la tríada de Carney: reporte de un caso / Pulmonary chondroma and carotid paraganglioma as expressions of Carney's triad: report of a case

Resumen Objetivos: Presentar caso clínico y revisión de la literatura sobre asociación de tumores poco frecuentes compatibles con diagnóstico de tríada de Carney. Paciente y Métodos: Revisión de ficha clínica de paciente de sexo femenino de 39 años de edad con antecedentes de asma, quien acude a servicio de urgencias por síntomas respiratorios. En estudio con imágenes se evidencia masa pulmonar en lóbulo superior derecho probablemente hamartoma y masa en la bifurcación carotídea izquierda compatible con posible paraganglioma. Se completó el estudio con endoscopia digestiva alta sin evidencia de tumor gástrico y PET-CT (tomografía de emisión de positrones-tomografía computarizada) que descartó otras lesiones. Resultados: La paciente fue sometida a resección quirúrgica de ambos tumores (pulmonar y carotídeo). En estudio histopatológico diferido, se plantean los diagnósticos de paraganglioma carotideo y hamartoma pulmonar, el cual, luego de una segunda revisión histopatológica, es corregido a condroma pulmonar. Discusión: La tríada de Carney se compone por la asociación de al menos 2 de 3 tumores: tumor estromal gastrointestinal (GIST), paraganglioma extra-adrenal y condroma pulmonar. Su expresión es variable, coexistiendo en forma completa en solo el 22% de los casos. Conclusión: Los pacientes con sospecha de tríada de Carney deben recibir evaluación multidisciplinaria, estudio completo en búsqueda de tumores asociados y seguimiento a largo plazo por posibles recurrencias o metástasis.

Objective: To present a clinical case and review of the literature on the infrequent association of pulmonary and extra thoracic tumors compatible with Carney's triad. Patient and Methods: Review of clinical records of a 39 years-old female patient with history of asthma who presented in the emergency department with respiratory symptoms. An imaging study showed a pulmonary mass in the right upper lobe with the aspect of hamartoma and a mass in the left carotid artery bifurcation compatible with a possible paraganglioma. Upper gastrointestinal endoscopy showed no evidence of gastric tumor and a PET-CT (Positron Emission Tomography - Computed Tomography) excluded other lesions. Results: Patient underwent surgical resection of both tumors (pulmonary and carotid). Diagnosis of carotid paraganglioma and pulmonary hamartoma were stated by histopathology. However, lung tumor after a second pathological analysis was confirmed to be a pulmonary chondroma. Discussion: Carney's triad is defined by the association of at least 2 of 3 tumors: Gastrointestinal Stromal Tumor (GIST), extraadrenal paraganglioma and pulmonary chondroma. Its expression is variable, coexisting completely in only 22% of cases. Conclusion: Patients with suspected Carney's triad should receive a multidisciplinary assessment, a complete study searching associated tumors and long-term follow-up for recurrences or metastases.

Manejo con cirugía conservadora de tumor mucinoso infiltrante ovárico coexistente con tumor mucinoso borderline contralateral en gestante de 8 semanas / Conservative surgery for management of invasive mucinous ovarian tumor with concurrent borderline mucinous tumor on contralateral ovary in a woman in 8th week of pregnancy

INTRODUCCIÓN: Aproximadamente un 4% de mujeres embarazadas presentan tumoraciones anexiales en el primer trimestre de gestación, siendo la mayoría quistes anexiales simples. Solo el 1,5% persisten tras el primer trimestre y en torno al 0,9% son malignos. CASO CLÍNICO: Paciente de 31 años que consultó en urgencias por sangrado y amenorrea de 5 semanas. La ecografía transvaginal evidenció un saco gestacional intraútero y una tumoración anexial izquierda compleja de 68 mm, multilocular, sólida, de ecogenicidad mixta, con septos gruesos y un área sólida vascularizada de 40 mm, sospechosa de neoplasia de ovario. Se realizó manejo quirúrgico conservador mediante anexectomía bilateral laparoscópica en la octava semana de gestación. El diagnóstico fue de adenocarcinoma mucinoso infiltrante bien diferenciado en ovario derecho, coexistente con tumor mucinoso borderline en ovario izquierdo (etapa IC FIGO). El embarazo cursó con normalidad, a excepción de feto pequeño para la edad gestacional en la semana 39. Se finalizó la gestación en la semana 40 mediante parto vaginal. Debido al deseo de la paciente, la cirugía se realizó en el primer trimestre de embarazo en lugar de en el segundo como se recomienda. La cirugía se completó meses después del parto, con histerectomía y apendicectomía laparoscópica. DISCUSIÓN: El cáncer de ovario es el segundo tumor ginecológico más diagnosticado durante el embarazo. Suele diagnosticarse en el primer trimestre debido al cribado ecográfico gestacional. Ocurre en mujeres con baja paridad y en sus últimos años de edad reproductiva. Esto podría verse reflejado en un aumento de su incidencia debido al retraso de la edad materna al primer embarazo. Normalmente se diagnostica en etapa I, siendo entonces la supervivencia superior al 90% a los 5 años. En etapas iniciales en mujeres embarazadas, la laparoscopia es tan válida como la laparotomía.

INTRODUCTION: Approximately 4% of pregnant women present adnexal tumors in the first trimester of gestation, the majority being simple adnexal cysts. Only 1.5% persist after the first trimester and around 0.9% are malignant. CASE REPORT: 31-year-old patient who came to the emergency room because of spotting and 5-week amenorrhea. A transvaginal ultrasound revealed an intrauterine gestational sac and a 69 mm complex multiocular-solid left adnexal tumor, with thick septa and a solid vascularized area of 40 mm, with suspicion of ovarian neoplasia. Conservative surgical management was performed through laparoscopic bilateral salpingo-oophorectomy in eighth week of gestation. The diagnosis was a well-differentiated infiltrating mucinous adenocarcinoma in the right ovary, and a coexisting borderline mucinous tumor in the left ovary (FIGO stage IC). The pregnancy proceeded normally except for a small for gestational age fetus at week 39 and pregnancy was completed at week 40 by vaginal delivery. Due to the patients wishes, the surgery was performed in the 1st trimester of pregnancy instead in the 2nd as is recommended. Final surgery was completed after giving birth, with laparoscopic hysterectomy and appendectomy. DISCUSSION: Ovarian cancer is the second most diagnosed gynecological tumor during pregnancy. It is usually diagnosed during the first trimester with gestational ultrasound screening. It occurs in women with low parity and in their later years of reproductive age. This could be reflected in an increase in its incidence due to the delay in the age of first pregnancy. Normally it is diagnosed in stage I, when the survival rate is superior to 90% after 5 years. In early stages, laparoscopic surgery in pregnant women is as valid as laparotomy.

Neoplasia primaria sincrónica de estómago, colon y recto: reporte de un caso / Synchronous stomach, colon and rectum primary neoplasias: a case report

Presentamos el caso de un paciente masculino de 40 años de edad, con estreñimiento de un año de evolución y antecedentes de enfermedad por reflujo gastroesofágico, se realiza endoscopia digestiva alta y baja y se realiza diagnóstico sincrónico de adenocarcinoma de estómago, recto y colon descendente, realizamos tomografía por emisión de positrones con tomografía computarizada pre quirúrgico y cirugía como tratamiento primario. Mostramos una descripción del caso y una revisión de la bibliografía.

We present the case of a 40-year-old man with a one year evolution constipation and a history of GERD. An upper and lower digestive endoscopy was performed and a synchronous diagnosis of adenocarcinoma of the stomach, rectum and descending colon was established. A PET-CT pre-surgical was performed and the surgery was carried out as primary treatment. We show a description of the case and a bibliographic review.

Tumores cutáneos de colisión / Cutaneous collision tumors

Los tumores de colisión consisten en neoplasias compuestas por dos poblaciones celulares distintas que mantienen una clara diferenciación de sus bordes y que se encuentran adyacentes una de otra en la misma muestra histopatológica. Esta asociación puede corresponder a dos tumores malignos, dos benignos o uno maligno y uno benigno. Son infrecuentes y, en ocasiones, representan un desafío clínico para la detección correcta de ambas neoplasias. Se presenan los casos de tres pacientes con tumores cutáneos de colisión, de estirpe melanocítica combinada con queratinocítica; en dos de ellos ambas neoplasias fueron malignas y en uno, se asociaron una lesión maligna y una benigna.

Collision tumors consist of neoplasms composed of two different cell populations that maintain a clear differentiation of their borders, and that are adjacent to each other in the same histopathological sample. This association can correspond to two malignant tumors, two benign, or one malignant and one benign. They are infrequent and, at times, represent a clinical challenge for the correct detection of both neoplasms. Three cases of cutaneous collision tumors of a melanocytic line combined with a keratinocytic line are presented, two of them in which both neoplasms were malignant and one that associated a malignant and a benign lesion.

Pleomorphic Xanthoastrocytoma with Oligodendroglioma-Like Areas with Negative 1p19q Co-Deletion

The most common mixed glioma encountered in routine surgical practice is oligoastrocytoma (OA); however, its is currently considered a vanishing entity. The 2016 classification of the World Health Organization (WHO) discourages the diagnosis of tumors as mixed glioma. The recommendations are that diffuse gliomas, including those withmixed or ambiguous histological features, should be subjected tomolecular testing. Dual-genotype OAs are not yet a distinct entity or variant in the classification. We report a case ofmixed glioma: a pleomorphic xanthoastrocytoma (PXA)mixed with an oligodendroglioma. The immunohistochemistry (IHC) pattern of isocitrate dehydrogenase 1 (IDH1) negativity with retained nuclear expression of the alpha-thalassemia x-linked intellectual disability syndrome (ATRX) protein, and 1p19q co-deletion negativity in both the components enabled its identification as a mixed glioma rather than a collision tumor. To the best of our knowledge, the case herein presented is the fourth case of PXA with oligodendroglioma. Out of the other three reported cases, only one was of a collision tumor with a dual genotype, and the other two showed similar molecular signatures in both components. The present article discusses the histological, immunohistochemical and molecular features of the aforementioned case.

Clinicopathological characteristics and prognosis of patients with sporadic multiple primary gastrointestinal stromal tumors / 中华胃肠外科杂志

Objective: To investigate the clinicopathological characteristics and prognosis of sporadic multiple primary gastrointestinal stromal tumor (GIST). Methods: A retrospective cohort study was conducted. Case inclusion criteria: (1) postoperative pathological diagnosis of GIST; (2) primary GIST with single lesion or sporadic multiple primary GIST (sporadic GIST was defined as primary GIST other than familial and syndrome-related GIST, and multiple primary GIST was defined as the number of primary GISTs in the same patient ≥ 2); (3) patients with complete clinicopathological data. Those with tumor recurrence or distant metastasis, and with other malignancies were excluded. Medical records of patients with primary GIST who underwent surgical resection in the Union Hospital, Tongji Medical College, Huazhong University of Science and Technology from January 2010 to December 2020 were collected. Patients were divided into sporadic multiple primary GIST group and single primary GIST group according to the number of primary GIST lesions. The clinicopathological data and prognosis of the two groups were observed and compared. Results: A total of 1200 patients with primary GIST were enrolled in this study, including 628 males (52.3%) and 572 females (47.7%), with a median onset age of 58 (19-93) years. Among them, 1165 cases (97.1%) were sporadic primary GIST with single lesion; 35 cases (2.9%) were sporadic multiple primary GIST. Among 35 cases of sporadic multiple primary GIST, 3 cases (8.6%) had acid reflux as the first symptom, which was higher than the single primary GIST group (22/1165, 1.9%) (χ(2)=7.437, P=0.006). There were no significant differences in other clinical characteristics between the two groups (all P>0.05). Patients in the sporadic multiple primary GIST group contained a total of 80 primary tumors. Compared with the single primary GIST group, the sporadic multiple primary GIST group had a higher proportion of tumors originating in the stomach [87.5% (70/80) vs. 59.1% (689/1165)], lower proportion of spindle cell in histology [85.0% (68/80) vs. 93.7% (1092/1165)], higher proportion of positive CD34 [97.5% (78/80) vs. 87.6% (1021/1165)], smaller maximum diameter [maximum diameter ≤2.0 cm: 61.2% (49/80) vs. 28.8% (335/1165)], lower mitotic rate [≤5/50 high-power fields (HPF): 93.8% (75/80) vs. 74.5% (868/1165)], lower risk of recurrence [60.0% (48/80) vs. 23.3% (271/1165)], and the differences were all statistically significant (all P<0.05). The 3-year recurrence-free survival rate in the sporadic multiple primary group and the single primary GIST group was 96.6% and 89.3% respectively (P=0.160), and the 3-year overall survival rate was 100.0% and 92.8%, respectively (P=0.088). Conclusions: The most common type of sporadic multiple primary GIST is multiple tumors originating in the stomach at the same time. Compared with primary GIST with single lesion, sporadic multiple primary GIST presents smaller maximum diameter and lower mitotic rate. The prognosis of patients between two groups is not significantly different.

Interpretation of the 2020 American society of colon and rectal surgeons clinical practice guidelines for the management of rectal cancer / 中华胃肠外科杂志

Located in the pelvic cavity and contiguous to the anal sphincter complex and urogenital organs, the rectum has more intricate anatomical features compared with the colon. Consequently, the treatment of rectal cancer involves more consideration, including pelvic radiation, lateral lymph node dissection, transanal access, postoperative function, sphincter preservation, and nonoperative management. Based on the last set of American society of colon and rectal surgeons (ASCRS) practice parameters for the management of rectal cancer published in 2013, the 2020 guidelines present evidence-based updates for both long-existing and emerging controversies on surgical management of rectal cancer. These updates include the indication for local resection, lymph node dissection for radical proctectomy, minimally invasive surgery, the "watch and wait" strategy for patients with clinical complete response, and prevention of anastomotic leak. Meanwhile, the guidelines recommend a risk-stratified approach for perioperative therapies for non-metastatic disease, and an individualized multimodality treatment based on treatment intent for synchronous metastatic disease.

Carcinoma endometrioide sincrónico de ovario y endometrio / Ovarian and endometrial synchronous endometrioid carcinoma

ANTECEDENTES: existe una asociación demostrada entre endometriosis y algunas histologías del carcinoma epitelial de ovario. Por otra parte, se ha observado que hasta un 30% de las neoplasias de ovario se presentan de forma concomitante a neoplasias del endometrio. Para considerar la sincronicidad entre estos tumores, estos deben cumplir criterios anatomopatológicos estrictos como los descritos por scully. OBJETIVO: presentar un caso clínico de carcinoma endometrioide sincrónico de ovario y endometrio sobre focos de endometriosis, así como su diagnóstico y manejo. CASO CLÍNICO: paciente de 27 años que consulta por spotting intermenstrual. En la ecografía endocavitaria se observa un pólipo endometrial. Además, se describe un tumor anexial izquierdo de 42mm, trilobulado, con un polo sólido de 17×15mm. Se somete a una polipectomía histeroscópica y quistectomía ovárica laparoscópica. Asimismo, se reseca implante sospechoso en el fondo de saco posterior. El resultado anatomopatológico de las piezas quirúrgicas fue: pólipo endometrial con hiperplasia compleja con atipias y focos de adenocarcinoma endometrioide grado I; el tumor quístico ovárico izquierdo consistente con quiste endometriósico con focos de adenocarcinoma endometrioide. La lesión peritoneal corresponde a un implante de adenocarcinoma endometrioide grado I. El estudio de las características anatomopatológicas y la presencia del implante peritoneal sugieren el diagnóstico de un carcinoma endometrioide ovárico con origen en una lesión endometriósica sincrónico con un carcinoma endometrioide endometrial. CONCLUSIÓN: el diagnóstico diferencial entre la sincronicidad o diseminación de los tumores de ovario y endometrio de estirpe endometrioide supone un reto para el clínico y es fundamental para el correcto manejo de estas neoplasias.

BACKGROUND: there is a demonstrated association between endometriosis and some epithelial ovarian carcinoma histologies. On the other hand, it has been observed that up to 30% of ovarian neoplasms present concomitantly with endometrial neoplasms. To consider synchronicity between these neoplasms, they must meet strict pathological criteria such as those described by scully. OBJECTIVE: to introduce a case of an ovarian and endometrial synchronous endometrioid carcinoma implanted on endometriosis sites, as well as its diagnosis and management. CLINICAL CASE: a 27-year-old patient who consulted because of an intermenstrual spotting. The ultrasound image showed an endometrial polyp. Furthermore, a 42 mm left adnexal trilobal tumor with a 17×15mm solid pole was described. She underwent a hysteroscopic polypectomy and laparoscopic ovarian cystectomy. Likewise, resection of a suspicious implant in the posterior vaginal fornix was done. The pathological result of the surgical pieces was: endometrial polyp with complex hyperplasia with atypia and focal points of grade I endometrioid adenocarcinoma; the left ovarian cystectomy: endometriotic cyst with focal points of endometrioid adenocarcinoma. The peritoneal lesion corresponded to a grade I endometrioid adenocarcinoma implant. The study of the pathological characteristics and the presence of the peritoneal implant suggest the diagnosis of endometrioid ovarian carcinoma originated in a synchronous endometriotic lesion with endometrial endometrioid carcinoma. CONCLUSION: differential diagnosis between the synchronicity or spread of ovarian and endometrial endometrioid cell line carcinomas, is a great challenge and it is essential for the correct management of these neoplasms

Metachronic breast and cerebellar neoplasm in a young patient / Neoplasias mamária e cerebelar metacrônicas em uma paciente jovem

Abstract Several factors trigger the development of genetic mutations that are responsible for causing a neoplasm. Medulloblastoma is a malignant and invasive cerebellar neoplasm, that affects children and young adults. Mucinous carcinoma is a special type of breast cancer. Being a special atypical subtype of invasive carcinoma, it most frequently affects women of advanced age and represents 1 to 7% of all breast cancers. The reported case aims to show the rarity of the occurrence of desmoplastic medulloblastoma and mammary mucinous carcinoma in a young patient in a short period of time, in different sites, without direct anatomical attachment and without occurrence of metastasis. Initially, this patient had a desmoplastic medulloblastoma and was treated with lumpectomy and radiotherapy. After 13 months, the patient was diagnosed with a mucinous breast carcinoma, underwent mastectomy, adjuvant chemotherapy and is currently undergoing endocrinotherapy. We conclude, based on the metachronous characteristic of the neoplasia and clinical characteristics, that the patient is likely to have Li-Fraumeni syndrome, an autosomal dominant disease with mutation of the TP53 gene, which is the the main involved. Because the patient does not present all the characteristics of the phenotype of the syndrome, she can thus be classified as having Li-Fraumeni variant or Li-Fraumeni-like syndrome.

Resumo Diversos fatores desencadeiam o desenvolvimento de mutações genéticas que são responsáveis por originar uma neoplasia. O meduloblastoma é uma neoplasia cerebelar maligna e invasiva que acomete crianças e adultos jovens. O carcinoma mucinoso é um tipo de câncer de mama especial por ser um subtipo atípico de carcinoma invasivo, que acomete com maior frequência mulheres de idade avançada e representa entre 1 a 7% do total de neoplasias mamárias. O caso relatado tem como objetivo mostrar a raridade da ocorrência do meduloblastoma desmoplásico e carcinoma mucinoso mamário em uma paciente jovem em um curto período de tempo, em diferentes sítios sem ligação anatômica direta e sem ocorrência de metástase. Inicialmente, esta paciente possuía um meduloblastoma desmoplásico e foi tratada com tumorectomia e radioterapia. Após 13 meses, a paciente foi diagnosticada com carcinoma mucinoso de mama, sendo submetida a mastectomia, quimioterapia adjuvante e atualmente está sendo tratada com endocrinoterapia. Concluímos, com base na característica metacrônica da neoplasia e características clínicas, que a paciente apresenta a síndrome de Li-Fraumeni, doença autossômica dominante com mutação do gene TP53, que é o principal gene envolvido nesta síndrome. Por não apresentar as características completas do fenótipo da síndrome, a paciente pode assim ser classificada como portadora de uma variante da síndorme de Li-Fraumeni ou síndrome do tipo Li-Fraumeni.

Concordant point mutation of ETS-related gene (ERG) in tumor tissues from a synchronous multiple primary lung cancer: A case report / 北京大学学报(医学版)

The rearrangement of the gene encoding the transcription factor ETS-related gene (ERG) is thought to play a key role in the development of prostate cancer. However, the studies on the ERG mutations have been rarely reported in non-small cell lung carcinoma (NSCLC). Here, we reported genetic features regarding a case of a 68-year-old male patient who presented the primary synchronous multiple tumor lesions in the separated lungs. The patient was hospitalized due to the presence of tumor lesions at the right and left lungs revealed by a chest computerized tomography (CT) scan. After conducting lobectomies at the both lungs, the tumor nodules were all removed, and the histological analysis suggested adenocarcinoma at the both tumor lesions. The patient was diagnosed with synchronous multiple primary lung cancer (SMPLC) based on Martini-Melamed criteria and American College of Chest Physicians practice guidelines. An exome analysis of 315 genes in the two tumor lesions and a non-tumor lesion was conducted by using Illumina Nextseq500 platform from each tumor region to decipher a potential evolutional progress of SMPLC. Single or pair-end reads were first mapped to a human genome reference and filtered based on the mapping quality score. The read depth was ≥ 1 000× and the depth of coverage was 95%. The data revealed a discordant epidermal growth factor receptor (EGFR) from the separate lungs; additionally, a high frequency of point mutation on exon 9 H310P of the ERG gene was detected at the both sites of the tumor lesions. This case showed that a potential role of the molecular features analysis from each tumor lesion might contribute to the understanding of the evolutional development of SMPLC. This study suggests that the same environment may contribute certain gene(s) mutations in the same sites in the early stages of polyclonal tumor origins; meanwhile the extensive studies on these genes may help us understand the evolution and progress of tumor clones.

Chinese expert consensus on multiple primary cancers of hypopharynx and esophagus / 中华外科杂志

Hypopharyngeal cancer and esophageal cancer often occur synchronously or metachronously. Timely screening, diagnosis and individual treatment are important to improve the prognosis of patients. At present, there is no clinical guideline or consensus in this cross-cutting area in China, and there is a need of consistent diagnosis and treatment recommendation for these patients. Under the sponsorship of the Committee of Esophageal Cancer in China Anti-Cancer Association, the Chinese Working Group on Cooperative Diagnosis and Treatment of Hypopharyngeal and Esophageal Cancer was established by domestic experts in the fields of otolaryngology head and neck surgery, radiation oncology, and gastrointestinal endoscopy. This consensus document on multiple primary cancers (simultaneous or metachronous) of the hypopharynx and esophagus was developed through literature review, collective experience and expert discussions. The goals of the consensus include: (1) raising concern for this cross-cutting field; (2) establishing a preliminary clinical diagnosis and treatment recommendation; (3) preparing for the establishment of future high-level guidelines through standardized clinical practice.

Papillary squamous carcinoma of the cervix with metachronous clear cell renal cell carcinoma / Philippine Journal of Obstetrics and Gynecology

@#Multiple primary tumors can be classified as synchronous or metachronous. Cases have been reported, with a prevalence, in gynecologic malignancies, of 1.9 to 4.3%, and commonly occurring in endometrial and ovarian malignancies. Renal tumors coexisting with primary cervical cancer are mostly metastatic tumors, and at present, no case of cervical carcinoma metachronous with renal cell carcinoma has been reported on literature. This is a case of Papillary Squamous Cell Carcinoma of the cervix who developed a metachronous Clear Cell Renal Cell Carcinoma. Several months after the diagnosis of cervical cancer, she presented with an abdominal mass and signs of uremia secondary to obstructive uropathy. She underwent radical nephrectomy with contralateral percutaneous nephrostomy. Definitive plan for the cervical mass is concurrent chemotherapy and radiation, depending on the improvement in renal function. Currently, there are no clearly established guidelines in managing metachronous cervical and renal masses, and this presents a unique opportunity to document this case, and study its implications on management and prognosis.

Triple synchronous tumors presenting as right nasolabial basal cell carcinoma, papillary thyroid carcinoma and prolactinoma: A rare case report / Journal of the ASEAN Federation of Endocrine Societies

@#Multiple primary tumors are rare, with a published meta-analysis that shows the frequency of second primary tumor at 3-5%, and a third tumor at 0.5%. A 57-year-old female sought consultation due to a persistently bleeding right nasolabial mass. On further history and examination, she also presented with a right anterior neck mass, repeated abortions, secondary amenorrhea, and loss of libido years prior. Serum prolactin was significantly elevated and an incidental finding of a pituitary mass on head and neck CT scan was appreciated. Metastasis and syndromic familial disorder were ruled out. Bromocriptine was given and she underwent total thyroidectomy and wide excision of the right nasolabial mass which turned out to be papillary thyroid carcinoma (PTC) and basal cell carcinoma (BCC) respectively on histopathologic report. On follow up, repeat serum prolactin decreased to normal levels. After extensive literature review, this is the first documented case of triple synchronous tumors with a combination of BCC of the right nasolabial area, PTC and prolactinoma in local, national and international studies. With comprehensive work up and literature search, the diagnosis was established and ultimately the patient benefited from a multidisciplinary management.

Rectal carcinoma with synchronous liver metastases / Carcinoma retal com metástases hepáticas síncronas

Abstract Introduction Colorectal cancer is amongst the most prevailing malignancies in the world and it is associated with a relatively high mortality rate. Rectal cancer occurs in 20-30% of all colorectal cancer cases, and 25% of this present synchronous metastatic disease. This study aims to review the current treatment approaches for rectal cancer patients with synchronous liver metastases, as there are no specific guidelines for the management of this group of patients. Methods A systematic literature search was performed on Pubmed database with a 10 year timeline limitation from 2008 to 2018. Results Currently, the only potentially curative approach remains to be the surgical resection. Conventionally, the classical strategy of these patients involves resection of rectal tumor, followed by liver resection, with chemotherapy sessions between the two procedures. However, recent studies have reported no inferiority, in safety and survival outcomes, when compared with other approaches (liver-first resection or simultaneous resection), except when symptoms of primary tumor are present. Hence, treatment strategy should be individualized based on the assessment of metastatic extent, primary tumor symptoms and the patient's overall clinical status. Chemotherapy and targeted agents have substantially contributed to overall survival improvements, allowing enhanced tumor down staging. Conclusion Complete resection of liver metastases is considered the major condition for a potential survival outcome in these patients. Management of these patients should include a multidisciplinary team with consideration of each individual specificities. Prospective randomized trials are needed to elucidate the optimal treatment strategy.

Introdução: O câncer colorretal está entre as neoplasias mais prevalentes no mundo, apresentando a uma taxa de mortalidade relativamente alta. Ele corresponde a 20% a 30% de todos os casos de câncer colorretal; 25% dos casos apresentam doença metastática síncrona. Este estudo teve como objetivo revisar as abordagens atuais de tratamento para pacientes com câncer retal com metástases hepáticas síncronas, uma vez que não existem diretrizes específicas para o manejo deste grupo de pacientes. Métodos: Uma busca sistemática da literatura foi realizada no banco de dados PubMed com uma limitação temporal de 10 anos (2008 a 2018). Resultados: Atualmente, a ressecção cirúrgica ainda é a única abordagem potencialmente curativa. Tradicionalmente, a estratégia clássica para o tratamento desses pacientes envolve a ressecção do tumor retal, seguida de ressecção hepática, com sessões de quimioterapia entre os dois procedimentos. No entanto, ao comparar a abordagem tradicional com outras técnicas (ressecção em primeiro plano do fígado ou ressecção simultânea), estudos recentes não relataram inferioridade nos desfechos de segurança e sobrevida, exceto quando sintomas de tumor primário estão presentes. Portanto, a estratégia de tratamento deve ser individualizada com base na avaliação da extensão metastática, nos sintomas primários do tumor e no estado clínico geral do paciente. A quimioterapia e os agentes dirigidos contribuíram substancialmente para as melhorias gerais na sobrevida, permitindo uma maior redução do estadiamento tumoral. Conclusão: A ressecção completa de metástases hepáticas é considerado o principal requisito para um possível resultado de sobrevida nesses pacientes. O manejo desses pacientes deve incluir uma equipe multidisciplinar e considerar as características específicas de cada paciente. Estudos prospectivos randomizados são necessários para elucidar a estratégia de tratamento ideal.

Synchronous presentation of muscle-invasive urothelial carcinoma of bladder and peritoneal malign mesothelioma

ABSTRACT Introduction Cancer is one of the most important leading cause of death in man and woman in the world. The occurrence of new cancer has become more frequent in recent years due to strict screening protocols and occupational and environmental exposure to carcinogens. The incidence of secondary malignancies has also increased due to close medical follow-up and advanced age. Herein, we report a case and its management diagnosed as synchronous peritoneal malignant mesothelioma and muscle-invasive urothelial carcinoma. Case Description A 71-year-old male presented with macroscopic hematuria and abdominal distension increasing gradually. A contrast enhanced computerized tomography demonstrated bladder mass and diffuse ascites with nodular peritoneal thickening and umbilical mass. He was treated with the multidisciplinary team working including urologist, medical oncologist and general surgeon. Conclusions To our knowledge, this is the first case of peritoneal malign mesothelioma with synchronous muscle-invasive urothelial carcinoma. Because of the rarity of this condition, there is still no consensus on the definitive treatment protocols, yet. Individualized treatment with multidisciplinary close follow-up might improve the survival outcomes.

Cáncer sincrónico detectado con PET/ CT-Tomografía Computada contrastada (PET/CTc) en 210 pacientes con cáncer colorrectal recientemente diagnosticado / Synchronous tumors detected with contrast-enhanced F18-FDG positron emission tomography/computed tomography (PET/CTc) in colorectal cancer

Background: Colorectal cancer (CRC) is the third most prevalent cancer in the world and is the second cause of cancer death. Positron emission tomography/computed tomography (PET/CT) using 18F-FDG is used for its staging and follow up. Aim: To assess the occurrence of synchronous colonic and extracolonic tumors detected with contrast-enhanced F18-FDG PET/CT (PET/CTc) in patients with a recently diagnosed CRC. Material and Methods: PET/CTc of 210patients aged 16-91, years (63% men) with a recently diagnosed CRC were reviewed. PET/CTc with incidental findings, not expected to be due to CRC, were followed (laboratory, imaging and pathology) searching for synchronous tumors. Results: Ten patients (4,7%) had a second synchronous CRC. Only 70% of synchronous CRC were accessible to colonoscopy, due mainly to incomplete procedures for stenotic tumors. Extracolonic synchronous neoplasms were detected in 12 patients (5,7%), namely lung cancer in three, renal cell carcinoma in two, non-Hodgkin lymphoma in two, pancreatic cancer in one, breast cancer in one, hepatocellular carcinoma in one, bladder cancer in one and thyroid cancer in one. Conclusions: Ten percent of patients with a recently diagnosed CRC had a synchronic neoplasm detected at staging using PET/CTc.

Adenocarcinoma pulmonar sincrónico y linfoma primario de tejido linfoide asociado a mucosa pulmonar / Synchronous pulmonary adenocarcinoma and primary lymphoma of lung mucosa-associated lymphoid tissue

Los linfomas derivados del tejido linfoide asociado a las mucosas (MALT) son entidades poco frecuentes, de bajo grado de malignidad con escaso o nulo compromiso ganglionar y representan cerca del 80% de los linfomas primarios pulmonares. La aparición sincrónica con adenocarcinoma de pulmón es un hallazgo extremadamente infrecuente. Presentamos el caso de un hombre de 68 años, ex-tabaquista, en quien durante el seguimiento de un nódulo pulmonar se identificó un segundo nódulo y la biopsia quirúrgica confirmó el diagnóstico de ambas neoplasias.

The lymphomas of mucosa-associated lymphoid tissue (MALT), are uncommon entities, of low grade of malignancy with very infrequent or no lymph node involvement. They represent about 80% of the primary pulmonary lymphomas. The synchronous appearance with lung adenocarcinoma is an extremely rare finding. We present the case of an ex-smoker 68-year-old man, in whom, in the follow-up of a pulmonary nodule, a second pulmonary nodule was found. The surgical biopsy confirmed the diagnosis of both neoplasms.