Bladder Urothelial Carcinoma in a Child: Case Report and Review of Literature.

Bladder urothelial carcinoma (UC) it is the fifth most prevalent carcinoma in humans, nevertheless in children and young adults it's very rare. It usually occurs in older adults. Literature on UC in pediatric population is limited and important information (risk factors, follow-up protocols, etc.) are poorly defined. We present an 11-year-old boy with a painful macroscopic hematuria. Ultrasound revealed a heterogeneous intravesical mass without extravesical extension, which was confirmed by computed tomography (CT) and magnetic resonance imaging (MRI). The first biopsy was compatible with urothelial papilloma. After 1 year, he returned with a bigger mass. Transurethral resection of the bladder (TURB) was performed and immunohistochemistry showed low-grade papillary UC with a high-grade component, with tumor free margin. Tumor had mutations in the BRAF and KRAS genes. Two and a half years after the resection the patient has no recurrence. Less than 1% of bladder UC occur in the first two decades of life. Gross hematuria is a common symptom. Ultrasound is generally the first diagnostic tool. MRI is also helpful, but cystoscopy allows definitive diagnosis. Transurethral resection of the bladder (TURB) is the standard treatment, with good results and low recurrence rate, and it was the treatment of choice for our patient, that remains free of disease. The BRAF and KRAS gene mutations were never described before in pediatric UC. There are only few cases in literature of pediatric UC that present a tumor genetic profile; therefore, our case report adds more information to this very rare disease in children.

Instabilidade de microssatélite - MSI nos marcadores (BAT26, BAT25, D2s123, D5S346, D17S250) no câncer de reto / Microsatellite instability - MSI markers (BAT26, BAT25, D2S123, D5S346, D17S250) in rectal cancer

RACIONAL: O câncer colorretal tem importante componente genético. Os microssatélites são considerados marcadores fenotípicos de prognóstico, resposta terapêutica e de identificação de pacientes com mutação nos genes de reparo do DNA. OBJETIVOS: Avaliar o perfil molecular dos tumores submetidos à microcirurgia endoscópica transanal (TEM) para tratamento do câncer de reto. MÉTODO: Foram selecionados 38 espécimes avaliados segundo o estadiamento patológico. Foram escolhidas amostras da região tumoral e realizada dissecação e extração do DNA. Os tumores colorretais foram testados para instabilidade de microssatélite - MSI utilizando um painel composto de cinco marcadores (BAT25, BAT26, D2S123, D5S346 e D17S2720), técnica da reação em cadeia da polimerase (PCR). RESULTADOS: Nos 38 casos observou-se que 63% eram do sexo masculino e 47% feminino com média de idade de 58,4 anos. Em relação ao tipo tumoral 58% eram adenomas, sendo 24% adenomas de baixo grau e 76% de alto grau; 42% eram carcinomas. Quanto à profundidade de ressecção, verificou-se que 80% dos casos incluíam a gordura perirretal e 20% até a muscular própria. O microssatélite com maior frequência de amplificação foi o BAT26 (100%) e o menor D17S2720 (85,4%). Dezesseis casos (42%) apresentaram MSI; eram dez carcinomas, dois adenomas de baixo grau e quatro de alto grau. Vinte e dois casos (68%) tinham microssatélite estáveis - MSS. A perda alélica dos marcadores de microssatélites foi estatisticamente significante nos casos de carcinoma em relação a adenomas. O microssatélite com maior frequência de amplificação foi o BAT26 (100%) e o menor D17S2720 (85,4%); 16 casos (42%) apresentaram instabilidade de microssatélite - MSI. Desses, dez eram carcinomas, dois adenomas de baixo grau e quatro de alto grau; 22 casos (58%) apresentaram microssatélite estáveis - MSS. CONCLUSÃO: A instabilidade de microssatélite (MSI-H) foi significantemente associada com carcinomas retais, confirmando sua utilização como marcador prognóstico na carcinogênese retal.

BACKGROUND: Colorectal cancer has an important genetic component. Microsatellites are considered phenotypic markers of prognosis, therapeutic response and identify patients with mutations in DNA repair genes. AIM: To evaluate the molecular profile of tumors underwent to transanal endoscopic microsurgery - TEM in surgical treatment of rectal cancer. METHOD: Thirty eight surgical specimens were evaluated according to pathological staging and the region of the tumor were dissected and submitted to DNA extraction. The colorectal tumors were tested for microsatellite instability - MSI using a panel of five markers (BAT25, BAT26, D2S123, D5S346, and D17S2720) technique of Polymerase Chain Reaction (PCR). RESULT: From total 63% were male and 47% female, with mean age of 58.4 years. In relation to tumor type adenomas were 58%, 24% low-grade adenomas and 76% high grade; 42% were carcinomas. The depth of resection 80% included the rectal perirenal fat and 20% the muscularis propria. The most frequent microsatellite amplification was BAT26 (100%) and lowest D17S2720 (85.4%). Sixteen patients (42%) were MSI, ten were carcinomas, two low grade adenomas and four high grade. Twenty-two cases (68%) showed microsatellite stable - MSS. The allelic loss of microsatellite markers was statistically significant in cases of carcinoma in relation to adenomas. The most frequent microsatellite amplification was BAT26 (100%) and lower D17S2720 (85.4%), 16 patients (42%) had microsatellite instability - MSI thereof ten were carcinomas, two low grade adenomas, four high-grade adenomas and 22 cases (58%) were microsatellite stable - MSS. CONCLUSION: Microsatellite instability (MSI-H) was significantly associated with rectal carcinomas, confirming its use as a prognostic marker in colorectal carcinogenesis.

Microsatellite instability--MSI markers (BAT26, BAT25, D2S123, D5S346, D17S250) in rectal cancer.

BACKGROUND: Colorectal cancer has an important genetic component. Microsatellites are considered phenotypic markers of prognosis, therapeutic response and identify patients with mutations in DNA repair genes. AIM: To evaluate the molecular profile of tumors underwent to transanal endoscopic microsurgery-TEM in surgical treatment of rectal cancer. METHOD: Thirty eight surgical specimens were evaluated according to pathological staging and the region of the tumor were dissected and submitted to DNA extraction. The colorectal tumors were tested for microsatellite instability-MSI using a panel of five markers (BAT25, BAT26, D2S123, D5S346, and D17S2720) technique of Polymerase Chain Reaction (PCR). RESULT: From total 63% were male and 47% female, with mean age of 58.4 years. In relation to tumor type adenomas were 58%, 24% low-grade adenomas and 76% high grade; 42% were carcinomas. The depth of resection 80% included the rectal perirenal fat and 20% the muscularis propria. The most frequent microsatellite amplification was BAT26 (100%) and lowest D17S2720 (85.4%). Sixteen patients (42%) were MSI, ten were carcinomas, two low grade adenomas and four high grade. Twenty-two cases (68%) showed microsatellite stable-MSS. The allelic loss of microsatellite markers was statistically significant in cases of carcinoma in relation to adenomas. The most frequent microsatellite amplification was BAT26 (100%) and lower D17S2720 (85.4%), 16 patients (42%) had microsatellite instability-MSI thereof ten were carcinomas, two low grade adenomas, four high-grade adenomas and 22 cases (58%) were microsatellite stable-MSS. CONCLUSION: Microsatellite instability (MSI-H) was significantly associated with rectal carcinomas, confirming its use as a prognostic marker in colorectal carcinogenesis.

Microcirurgia endoscópica transanal e tratamento adjuvante no câncer retal precoce / Transanal endoscopic microsurgery and adjuvant therapy in the treatment of early rectal cancer

RACIONAL: A excisão total do mesorreto é considerada a operação padrão no tratamento dos tumores do reto, apesar de não existir comprovação científica de que ela deva ser usada para todos os estádios da doença. Tem sido demonstrado que em casos escolhidos de tumores retais, resultados promissores podem ser conseguidos com tratamento local por microcirurgia endoscópica transanal. Tais tumores, denominados de câncer retal precoce, são tumores T1 - menores do que 4 cm -, bem diferenciados sem invasão angiolinfática pT1 Sm1. Como o risco de comprometimento linfonodal nesses tumores é de aproximadamente 3 por cento, a ressecção local teria grande chance de ser curativa. OBJETIVO: Apresentar os resultados de uma série prospectiva não randômica de pacientes portadores de câncer retal precoce submetidos ao tratamento local por microcirurgia endoscópica transanal. MÉTODOS: Entre 2002 e 2010, 38 pacientes avaliados por protocolo pré-operatório como portadores câncer retal precoce foram submetidos à ressecção local endoscópica microcirúrgica de toda a parede retal com o tumor quando localizado entre 2 e 8 cm da linha pectínea. A avaliação pré-operatória consistiu de toque retal, retossigmoidoscopia rígida para macrobiópsias, enema opaco e/ou colonoscopia, ultrassonografia endoretal e abdominal, tomografia axial computadorizada do abdome, radiografia do tórax e dosagem sérica do CEA. Realizou-se seguimento pós-operatório endoscópico e ultrassonográfico endoretal a cada três meses nos dois primeiros anos, e a cada seis nos próximos três anos, além de dosagem do CEA a cada seis meses nesse mesmo período de cinco anos. Avaliou-se a recidiva tumoral, morbidade e mortalidade. RESULTADOS: Após avaliação anatomopatológica da lesão, 29 cânceres retais precoces foram categorizados como de baixo risco e nove sendo de alto. O seguimento na série variou de um a sete anos. Recidiva tumoral foi confirmada em dois casos dos 38 (5,26 por cento), uma lesão considerada de alto...

BACKGROUND: The total mesorectal excision is considered the standard operation in the treatment of rectal tumors, although there is no scientific proof that it should be used for all stages of the disease. It has been demonstrated that in selected cases of rectal tumors, promising results can be achieved with local treatment by transanal endoscopic microsurgery. These tumors, called early rectal cancer, T1 tumors, are less than 4 cm, well differentiated without angiolymphatic invasion - pT1 SM1. As the risk of lymph node involvement in these tumors is approximately 3 percent, local resection would have a great chance to be curative. AIM: To present the results of a non-random prospective series of patients with early rectal cancer treated by transanal endoscopic microsurgery. METHODS: Between 2002 and 2010, 38 patients evaluated by preoperative protocol as patients with early rectal cancer underwent endoscopic microsurgical resection of the entire rectal wall including the tumor when located between 2 and 8 cm from the dentate line. The preoperative evaluation consisted of digital rectal examination, rigid sigmoidoscopy macrobiopsies, barium enema and/or colonoscopy, endorectal ultrasound and abdominal computed tomography of the abdomen, chest radiography and serum CEA. Was conducted follow-up with endoscopy and endorectal ultrasound every three months during the first two years, and every six in the next three years, and CEA every six months during the same period of five years. Was evaluated the tumor recurrence, morbidity and mortality. RESULTS: Pathologic evaluation considered 29 categorized as low risk and nine being high. The follow-up in the series ranged from one to seven years. Tumor recurrence was confirmed in two of the 38 cases (5.26 percent), in one the lesion was considered high and another low risk. CONCLUSION: Transanal endoscopic microsurgery associated or not to adjuvant therapy, may be, currently, considered the gold standard in...