Tumor de ovario de los cordones sexuales con túbulos anulares: reporte de caso y revisión de la literatura / Ovarian sex cord tumor with annular tubules: case report and review of the literature

RESUMEN Objetivos: Reportar un caso de Tumor de Ovario de los Cordones Sexuales con Túbulos Anulares (TCSTA), hacer una revisión de la literatura acerca del diagnóstico, tratamiento y pronóstico de esta condición. Materiales y métodos: Se informa el caso de una mujer que consultó al Instituto Nacional de Cancerología, Bogotá (Colombia), con diagnóstico final de TCSTA avanzado, quien recibió tratamiento quirúrgico y quimioterapia con evolución satisfactoria a los 6 meses. Se realizó una búsqueda de la literatura en las bases de datos Medline vía PubMed, LILACS y Scielo, que incluía reportes y series de caso de mujeres con diagnóstico de TCSTA, publicados desde 1990, sin incluir rango de edad. Se extrajo información sobre el diagnóstico, tratamiento y pronóstico reportado. Se realizó resumen narrativo de los hallazgos. Resultados: Se incluyeron 14 publicaciones que incluían 26 pacientes. La edad media al diagnóstico fue de 22,5 años. Los síntomas principales fueron alteraciones de la menstruación y dolor pélvico. La tomografía computarizada fue la tecnología de imágenes más frecuentemente utilizada. El tratamiento fue quirúrgico, siempre usado, acompañado de quimioterapia (29 %); 2 casos recibieron radioterapia. Hubo recaída en el 20 % de los casos. La mortalidad fue del 12,5 %, toda en el primer año. Conclusiones: La información sobre la utilidad diagnóstica de las imágenes, marcadores tumorales y estudios de histoquímica es escasa, como también los datos sobre el pronóstico de la entidad. El tratamiento quirúrgico es el de elección, teniendo en cuenta el deseo de fertilidad de la paciente y el estadio tumoral. Se requieren más estudios que documenten de manera más detallada el manejo de esta condición.

ABSTRACT Objectives: To report a case of ovarian sex cord tumor with annular tubules (SCTAT) and conduct a literature review on diagnosis, treatment and prognosis of this condition. Material and methods: Case report of a woman with a final diagnosis of advanced SCTAT seen at the National Cancer Institute in Bogota (Colombia) who received surgical treatment and chemotherapy with a satisfactory course after 6 months. A literature search was conducted in the Medline via PubMed, LILACS and Scielo databases, including case reports and series of women diagnosed with SCTAT published since 1990, not using age ranges. Information about diagnosis, treatment and reported prognosis was retrieved. A narrative summary of the findings was prepared. Results: Fourteen publications with 26 patients were included. Mean age at diagnosis was 22.5 years. The main symptoms were menstruation abnormalities and pelvic pain. Computed tomography (CT) was the imaging technology most frequently used. Surgical treatment was used in all cases, together with chemotherapy in 29 %; 2 patients received radiotherapy. Recurrence occurred in 20 % of cases. Mortality was 12.5 %, with all deaths occurring within the first year. Conclusions: There is a paucity of information about the diagnostic utility of imaging, tumor markers and histochemical studies, as well as prognosis of this disease condition. Surgery is the treatment of choice, taking into consideration the patient's wishes regarding fertility, as well as the stage of the tumor. Further studies are needed to provide more detailed information about this condition.

Manejo da síndrome de Peutz-Jeghers no contexto de recursos limitados / Peutz-jeghers syndrome in resource-limited scenario

ABSTRACT BACKGROUND: Peutz-Jeghers Syndrome (PJS) is a rare, autosomal dominant disease, caused by deletions in the chromosome 19p33.3/ gene LKB1/STK11. These mutations inactivate a serine/threonine kinase and predispose to carcinogenesis. In PJS, tumors of the gastrointestinal, testicles, pulmonary, breast, pancreas, uterus and ovaries can be found. OBJECTIVE: To evaluate demographics, clinical presentation and complication/outcomes of pediatric patients presenting with Peutz-Jeghers syndrome (PJS), as well as to present and discuss management in the context of limited resources. METHODS: We conducted a retrospective chart review of a cohort of six patients, who were diagnosed and/or followed at the Clinics Hospital, University of Campinas - Sao Paulo/Brazil, between 2000 and 2018. Data analyzed included gender, age of presentation, age of diagnosis, family history, PJS complications. RESULTS: Median age of diagnosis of 6.7 years, with a mean time of follow-up of 8.1 years. Mucocutaneous pigmentation was universally present. Half of the patients had a known family history at the time of diagnosis. On follow up, intestinal intussusception was documented in four out of six patients, in most (three), in different locations and in multiple occasions. The active investigation of siblings and parents of the index case led to the diagnosis of three first-degree relatives in the present case series. CONCLUSION: In this first pediatric PJS Brazilian case series, we report a wide spectrum of PJS manifestations and complications. In a resource limited scenario, despite limitations for the surveillance of complications, the relative frequency of complications was not higher than historically reported.

RESUMO CONTEXTO: A síndrome de Peutz-Jeghers (SPJ) é uma doença autossômica dominante rara, causada por deleções no cromossomo 19p33.3/gene LKB1/STK11. Essas mutações inativam uma serina/treonina quinase e predispõem à carcinogênese. Na SPJ, podem ser encontrados tumores do trato gastrointestinal, testicular, pulmonar, de mama, de pâncreas, de útero e de ovários. OBJETIVO: Avaliar dados demográficos, apresentação clínica e complicações de pacientes pediátricos que se apresentam com SPJ, além de apresentar e discutir o manejo no contexto de recursos limitados. MÉTODOS: Realizamos uma revisão retrospectiva de prontuários de uma coorte de seis pacientes, diagnosticados e/ou acompanhados no Hospital das Clínicas da Universidade de Campinas - São Paulo, Brasil, entre 2000 e 2018. Os dados analisados incluíram sexo, idade de apresentação, idade do diagnóstico, história familiar, complicações da SPJ. RESULTADOS: Idade média de diagnóstico de 6,7 anos, com tempo médio de seguimento de 8,1 anos. A pigmentação mucocutânea estava universalmente presente. Metade dos pacientes tinha um histórico familiar conhecido no momento do diagnóstico. Intussuscepção intestinal foi observada em quatro dos seis pacientes durante o período de acompanhamento, sendo que em três ocorreram vários episódios em diferentes múltiplas localizações. A investigação ativa de irmãos e pais do caso-índice levou ao diagnóstico de três parentes de primeiro grau na presente série de casos. CONCLUSÃO: Nesta primeira série de casos brasileiros de SPJ pediátrica, relatamos um amplo espectro de manifestações e complicações da SPJ. Em um contexto de recursos limitados, apesar das limitações para a vigilância de complicações, a frequência relativa de complicações não foi maior do que o relatado historicamente.

Síndrome de Laugier-Hunziker / Laugier-Hunziker syndrome

El síndrome de Laugier-Hunziker es un trastorno pigmentario adquirido poco frecuente, caracterizado por presentar lesiones hiperpigmentadas cutaneomucosas idiopáticas que pueden asociarse a melanoniquia longitudinal. A pesar de ser considerado una enfermedad benigna sin manifestaciones sistémicas ni potencial maligno, es clave realizar el diagnóstico diferencial con otros trastornos pigmentarios, en especial con el síndrome de Peutz-Jeghers. Se presenta aquí el caso de un paciente con este síndrome poco frecuente. (AU)

Laugier-Hunziker syndrome is a rare acquired pigmentary disorder that is characterized by idiopathic mucocutaneous pigmentation that may be associated with longitudinal melanonychia. Although this syndrome is considered a benign disease with no systemic manifestations or malignant potential, it is important to rule out other mucocutaneous pigmentary disorders, especially Peutz-Jeghers syndrome. We report the case of a patient with this unusual syndrome. (AU)

CLINICAL, EPIDEMIOLOGIC, AND ENDOSCOPIC PROFILE IN CHILDREN AND ADOLESCENTS WITH COLONIC POLYPS IN TWO REFERENCE CENTERS

Background - The main goal of this paper is to investigate the frequency, clinical profile, and endoscopic findings of children and teenagers submitted to colonoscopies. Methods - Patients of below 18 years of age, diagnosed with polyps by means of colonoscopies at two reference centers of pediatric endoscopy were followed-up between 2002 and 2012. The clinical variables evaluated in this study included: gender, recommendation of colonoscopy, associated signs and symptoms, age of onset of symptoms, age at identification of the polyp, interval of time between the onset of symptoms and the endoscopic diagnosis of colonic polyps, and family history of intestinal polyposis and/or colorectal cancer. The characteristics of the polyps also included: number, morphological type, histology, and distribution. Polyposis syndromes were also investigated. Results - From the 233 patients submitted to colonoscopies, polyps were found in 74 (31.7%) patients, with a median age of 6.6 years, of which 61% were male. Juvenile polyps were identified in 55 (74%) patients, with 7 (9%) characterized within the criteria for juvenile polyposis. Patients with intestinal polyposis syndromes were diagnosed in 35% of the patients. The most frequent clinical presentation was hematochezia. Abdominal pain with acute episodes of intestinal partial obstruction or intussusception with emergency laparotomy was observed in the majority of Peutz-Jeghers syndrome patients leading to an increased morbidity. Conclusions - Even though juvenile colonic polyps are the most frequent type of diagnosed polyps, the present study identified a significant level of children with polyposis syndromes (35%), associated with a higher morbidity of these individuals.

Objetivos - Conhecer a frequência, o perfil clínico, os achados endoscópicos, de crianças e adolescentes submetidos à colonoscopia em dois centros de referência em gastroenterologia e endoscopia pediátrica. Métodos - Foram avaliados e acompanhados pacientes com idade menor ou igual a 18 anos com diagnóstico de pólipos identificados à colonoscopia em dois centros de referência em endoscopia pediátrica no período de 2002 a 2012. As variáveis clínicas avaliadas foram: gênero, indicação da colonoscopia, sinais e sintomas associados, idade de início dos sintomas, idade à identificação do pólipo, intervalo de tempo entre início dos sintomas e diagnóstico endoscópico do pólipo colônico, história familiar de polipose intestinal e/ou câncer coloretal. Em relação às características dos pólipos foram descritos: número, tipo morfológico, histológico e distribuição. Foram estudadas também as síndromes poliposas (síndrome de Peutz-Jeghers, síndrome juvenil poliposa, síndrome poliposa adenomatosa familiar). Resultados - Dos 233 pacientes submetidos à colonoscopia, foram encontrados 74 (31,7%) pacientes com pólipos, com mediana de idade de 6,6 anos, 61% do gênero masculino. Pólipos juvenis foram identificados em 55 (74%) dos pacientes, sendo 7 (9%) com critérios diagnósticos de polipose juvenil. Pacientes com síndromes poliposas intestinais foram diagnosticados em 35% dos pacientes. Destes, 12% com diagnóstico de polipose adenomatosa familiar, 9% com síndrome juvenil poliposa e 8% com diagnóstico de Síndrome de Peutz-Jeghers. A apresentação clínica mais frequente foi o sangramento retal indolor. Nos pacientes com polipose adenomatosa familiar o principal motivo da indicação da colonoscopia foi para rastreamento da doença devido história familiar da síndrome poliposa. Um paciente apresentou adenocarcinomacoloretal, simultâneo ao diagnóstico da polipose adenomatosa aos 15 anos de idade. Dor abdominal com episódios agudos de semiobstrução ou intussuscepção intestinal com laparotomia de urgência foi observado nos pacientes com Peutz-Jeghers. Conclusões - Embora os pólipos colônicos juvenis sejam os mais frequentemente diagnosticados, foi observado um percentual significativo de crianças com síndromes poliposas (35%) associado a uma maior morbidade destas crianças. Desta forma concluímos ser importante estabelecimento de um protocolo de diagnóstico e seguimento dos pacientes afetados e familiares de risco.

Diagnostic difficulty in Peutz-Jeghers syndrome / Dificuldade diagnóstica na Síndrome de Peutz-Jeghers

A case of diagnostic difficulty facing the patient with colonic polyposis secondary to Peutz-Jeghers syndrome, but without family history and pathognomonic clinical features of the disease, is illustrated. The exams, including biopsy, led to diagnostic uncertainty and the definitive diagnosis was characterized in therapeutic of exception. (AU)

Ilustra-se um caso de dificuldade diagnóstica frente à paciente com polipose colônica secundária a Síndrome de Peutz-Jeghers, sem história familiar e sem características clínicas patognomônicas da doença. Os exames, incluindo biópsia, geraram dúvida diagnóstica, sendo o diagnóstico definitivo caracterizado em terapêutica de exceção. (AU)

Peutz-Jeghers Syndrome with Adenomatous Change in a Fifteen-month-old Boy / 대한소화기학회지

Peutz-Jeghers syndrome (PJS) is a very rare genetic disorder. PJS carries a high risk of developing gastrointestinal (GI) cancer or non-GI cancer with advancing years. However, major symptoms of PJS in childhood are obstruction, intussusception, and bleeding from hamartomatous intestinal polyps which in majority of cases are not related to cancer. Generally, first GI symptom develops by 20 years in one half of children diagnosed with PJS. Children under two years of age who had PJS polyp-related intestinal symptoms are rare, and there have been no published report on intestinal carcinoma development, adenomatous change or dysplasia of polyps in Korean children with PJS. Recently, the authors have experienced a case PJS with adenomatous polyp change in a 15-month-old boy who had STK11 gene mutation. Therefore, early evaluation could be necessary and considered in children with PJS.

Peutz-Jeguers syndrome: case report and literature review

The Peutz-Jeghers syndrome is a rare disease characterized by the presence of mucocutaneous melanic pigmentation of the lips, oral mucosa and perioral region, associated with hamartomatous intestinal polyposis. Malignization of the polyps and association with other types of cancer are also usual. Case report: 32-year-old patient, female, white, who had an intestinal occlusion by invagination, discovered during laparotomy, when an intestinal tumor was found as well. The material was sent to anotomopathological analysis. However, the results did not allow to identify the tumor nature due to tumor necrosis. Then, the patient was sent to our service because of the intestinal polyps, and during the interview, the characteristic melanic pigmentation was observed. Videocolonoscopy was performed, with excision of two rectal polyps, identified in the anatomopathological exam as hamartomatous polyps. The patient reported anal imperforation at birth, just like her brother. He had unexplained death. The authors found no correlation of the Peutz-Jeghers syndrome with anal imperforation in the literature and asked the patient if her brother also had the syndrome. (AU)

A síndrome de Peutz-Jeghers é uma doença rara que tem como características a pigmentação melânica mucocutânea de lábios, regiões perioral e de mucosa bucal associada à polipose hamartomatosa do trato intestinal, com possibilidade de malignização dos pólipos digestivos e associação com outros tipos de câncer. Relato de Caso: Paciente de 32 anos, de gênero feminino, branca, apresentou um quadro de oclusão intestinal por uma invaginação, evidenciada durante laparotomia exploradora, constatando-se, ainda, a presença de uma tumoração intestinal. O material foi encaminhado para exame anatomopatológico; porém, foi inconclusivo para a natureza da tumoração em decorrência da necrose. Em função do pólipo intestinal, a paciente foi encaminhada ao nosso serviço, quando percebemos a presença de pigmentação melânica característica. Realizamos videocolonoscopia com achado de dois pólipos de reto cujo resultado do exame anatomopatológico foi de pólipo hamartomatoso. A paciente relatou ainda ter nascido com imperfuração anal e possuir irmão que também nascera com a mesma imperfuração e que evoluiu para óbito não esclarecido. Não encontramos relato na literatura de associação da síndrome de Peutz-Jeghers com imperfuração anal e interrogamos se o irmão teria também a síndrome. (AU)

Tumor de células de Sertoli calcificante, de células grandes: caso clínico / Large cell calcifying Sertoli cell tumor: Report of one case

Sertoli Cell Tumors are less than 1 percent of all testicular tumors. We report a 14-year-old male presenting with a left testicular mass. Orchiectomy was carried out and the pathological study informed a large cell calcifying Sertoli cell tumor (LCCSCT). Its association with the Carney complex and Peutz-Jeghers Syndrome was subsequently discarded. Surgical excision was completed with a radical orchiectomy. After eight months of follow up, there is no evidence of tumor relapse.

Síndrome de Peutz-Jeghers complicado: reporte de un caso / Intestinal obstruction in a patient with Peutz-Jeghers syndrome: report of one case

El Síndrome de Peutz-Jeghers (SPJ), es una patología poco frecuente, hereditaria, autosómica dominante, caracterizada por la pigmentación de la mucosa oral y de la piel plantar y palmar, junto a una poliposis gastrointestinal de tipo hamartomatoso. En su crecimiento dicho pólipos pueden llegar a complicarse y causar intususcepción, obstrucción y hemorragias intestinales. La mutación genética asociada a éste síndrome es en el cromosoma 19p, en el gen STK 11, y en la enzima LKB 1, que disminuye su función de supresión de tumores. Hay un aumento de la enzima Cox-2, pudiendo llegar a asociarse a una mayor incidencia de cáncer gastrointestinal y extraintestinal, por lo que es importante una pesquisa precoz de los pólipos. El objetivo de este trabajo, es reportar un caso de Íleo mecánico a nivel del yeyuno proximal como una complicación aguda de una poliposis de larga evolución por SPJ, que consultó en nuestro Servicio de Urgencia y que requirió de una laparotomía exploradora.

The Peutz-Jeghers syndrome (PJS) is an uncommon hereditary autosomal dominant disease, characterized by pigmentation of oral mucosa, plantar and palmar skin and gastrointestinal hamartomatous polyposis. When these polyps grow they can cause intussusceptions, intestinal obstruction and hemorrhages. We report a 38 years oíd male admitted for an intestinal obstruction. He had pigmentations of lips and palms of the hands. He was operated, finding a dilatation and thickening of thefirst 50 cm of jejunum. In the zone of obstruction, three intraluminal tumors of approximately 3.5 cm diameter were palpated. Similar tumors were palpated in transverse and descending colon. Approximately 20 cm of dilated proximal jejunum were excised. The pathology report informed the presence of hamartomatous polyps, confirming the diagnosis of Peutz-Jeghers syndrome.

Consecuencias dentales después del tratamiento quirúrgico en un paciente con síndrome de Peutz-Jeghers / Dental consequences after surgical treatment in a patient with Peutz-Jeghers syndrome

El síndrome de Peutz-Jeghers, aunque clásico, es una entidad poco conocida que se transmite hereditariamente como un rasgo autonómico dominante caracterizado por pólipos intestinales hamartomatosos, depósitos mucocutáneos de melanina, y un elevado riesgo de cáncer. En este artículo presentamos el caso de un joven de 18 años, sin antecedentes familiares del síndrome, que fue tratado de urgencia por obstrucción intestinal. Le fue practicada una enterectomía que dio origen a un síndrome de intestino corto, que condujo aparentemente a caries rampante. Dos años después el paciente perdió todos sus dientes y actualmente usa dentaduras. El diagnóstico temprano del síndrome puede ser realizado por el dentista antes de la obstrucción intestinal para que el tratamiento quirúrgico sea conservador y así evitar el síndrome de intestino corto y sus consecuencias.

Peutz-Jeghers syndrome, although a classic, but not widely known entity, is a hereditary condition, with an autosomal dominant condition characterized by intestinal hamartomatous polyps, mucocutaneous melanin depositis, and increased risk of cancer. This paper reports an 18-year-old patient with no family history of the disease, who underwent surgery for treatment of an intestinal occlusion. Enterectomy was performed and the outcome was short bowel syndrome and rampant caries. Two years later the patient lost all his teeth and actually uses dentures. Early diagnosis can be done by dentist prior to intestinal occlusion for the conservative surgical treatment that prevents small short bowel syndrome and its consequences.

Bilateral sex cord tumor with annular tubules of ovary without Peutz-Jeghers syndrome: a case report.

Ovarian sex cord tumor with annular tubules is a very rare tumor .Afourteen year old Nepali girl presented with abdominal distension and lower abdominal pain.On laparotomy bilateral ovarian masses were found. It was totally solid on the right side and was partially solid and partially cystic on the left side. The patient had no other symptoms and features of Peutz-Jeghers syndrome. Microscopic examination showed characteristic findings of sex cord tumor with annular tubules on both sides. The patient was doing well 2 months after surgery. The case is presented with review of literature because of the rare clinical presentation.

Laugier Hunziker syndrome.

Laugier-Hunziker syndrome is characterized by idiopathic mucocutaneous pigmentation that may be associated with longitudinal melanonychia. The significance of this condition is due to its inclusion in differential diagnoses of pigmentary disorders of the oral mucosa, especially Peutz-Jeghers syndrome.

Peroperative enteroscopy and polypectomy in Peutz-Jegher syndrome.

We report a 32-year-old who lady when presented with anemia and was detected to have Peutz-Jegher syndrome. She had malignancies of the colon and ovary over a 2-year follow up and was successfully managed. On screening the family two more members were confirmed to have Peutz-Jeghers syndrome and have been put on surveillance.

O papel da enteroscopia de duplo-balão na síndrome de Peutz-Jeghers: relato de caso / The role of double balloon enteroscopy in the Peutz-jeghers syndrome: a case report

A síndrome de Peutz-jeghers é uma doença autossômica dominante caracterizada por polipose gastrointestinal (hamartomas), pigmentação mucocutânea e risco aumentado de neoplasias gastrointestinais (adenocarcinoma do cólon, duodeno, jejuno e íleo) e extra-intestinais (neoplasias do pâncreas, vias biliares, mama, ovário, testículo e últero). As principais complicações da síndrome são hemorragia digestiva e obstrução intestinal. O presente estudo enfoca o uso da enteroscopia de duplo-balão em um paciente com síndrome de Peutz-jeghers previamente diagnosticada, apresentadndo quadro de suboclusão intestinal internitente

Síndrome de Peutz-jeghers: relato de caso / Peutz-Jeghers: a case report

A síndrome de Peutz-Jeghers é uma doença autossômica dominante caracterizada por pólipos hamartomatosos do trato gastrointestinal associados à hiperpigmentação mucocutânea. Os pólipos são responsáveis pelas principais complicações da síndrome: hemorragia digestiva e obstrução intestinal. Os autores relatam o caso de uma paciente com síndrome de Peutz-jeghers apresentando um quadro de dor abdominal

Hereditary Colorectal Cancer / 대한소화기학회지

Hereditary syndromes cause approximately 5 to 15% of overall colorectal cancer (CRC) cases. Hereditary CRC is conventionally divided into two major categories: hereditary non-polyposis colorectal cancer (HNPCC) and those related to polyposis syndromes including familial adenomatous polyposis (FAP), Peutz-Jegher syndrome (PJS), and juvenile polyposis (JP). The screening for the cancer and methods of treatment applied to patients with hereditary CRC are quite different from those applied to the general population. The genes responsible for these syndromes has recently identified, as a result, genetic testing has become the most important determining factor in clinical decisions. Germ-line mutation of the APC gene induces FAP, an autosomal dominant disorder, characterized by the development of hundreds to thousands of colonic adenomas. CRC appears in almost all affected individuals by the time they are 50 years of age. An affected individual should undergo colectomy by his/her late teens. Furthermore, according to the findings of genetic testing, at-risk family members also need endoscopic surveillance and surgery. Recently, a mutation on the MYH gene is increasingly being investigated in patients with multiple polyps, and autosomal recessive MYH polyposis is considered to be a new category of polyposis. More common than FAP, HNPCC is caused by germ-line mutations in DNA mismatch repair genes, mainly MLH1 and MSH2. Although there is no polyposis, polyps seem to be more villous and dysplastic and appear to grow rapidly into CRCs. The aggregate lifetime risk of CRC is about 80% for mutation carriers. The risk for other types of cancer, such as endometrial, ovarian, small bowel, and transitional cell cancer, is also increased. The Amsterdam criteria and Bethesda guidelines are the best-known tools for diagnosis and genetic testing, and colectomy followed by endoscopic follow-up is the standard treatment. PJS and JP are reported to be characterized by hamartomatous polyps throughout the GI tract and germ-line mutations in the STK11 gene (PJS) and the DPC4/BMPR1A gene (JP).