HEADINGS -Microsatellite instability. Tumor markers, biological. Trasanal endoscopic microsurgery.ABSTRAT -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 highgrade 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. ABCDDV/877RESUMO -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.
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.
-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%, local resection would have a great chance to be curative. Aim -To present the results of a nonrandom 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%), 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 local rectal resection, with encouraging results in cases chosen with early rectal tumors at low risk. ABCDDV/774RESUMO -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%, 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 pre...
Impacto prognóstico das mutações de EGFR e KRAS na sobrevivência do câncer pulmonar na era pré-tki: o cenário real em um centro público de câncer de referência no Brasil
Impacto prognóstico das mutações de EGFR e KRAS na sobrevivência do câncer pulmonar na era pré-tki: o cenário real em um centro público de câncer de referência no Brasil
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