RESUMO
INTRODUCTION: Lynch syndrome (LS) is an autosomal dominant disorder characterized by early age of onset and increased risk of developing extracolonic tumors. Molecular diagnosis of LS requires identification of germline mutations in one of the Mismatch Repair (MMR) genes. AIM: The objective of the study was to investigate the prevalence of MLH1/MSH2 mutation carriers among Moroccan patients with colorectal cancer (CRC) in a hospital-based cohort. METHODS: In this study, 214 CRC patients from COLORECFez cohort were included. Patients whose tumors showed MMR deficiency (MMR-D) and wild-type BRAF were selected to undergo mutational analysis of the MLH1 and MSH2 genes using Sanger sequencing. RESULTS: A total of 24 MMR-D tumors were identified (11.2%) among 214 CRC tested for MMR protein expression. The BRAF p.Val600Glu mutation was absent in all tumors deficient for MLH1 protein. Molecular screening showed germline MMR mutations (MLH1/MSH2) in four cases, two of which fulfilled Amsterdam criteria II and two met at least one of the revised Bethesda guidelines. The estimated frequency of MLH1/MSH2 mutations in Moroccan CRC patients was 1.87%. CONCLUSIONS: The present study reports a relatively high incidence of MLH1/MSH2 (1.87%). These results confirm the contribution of MMR genes to CRC susceptibility in our population and provide evidence regarding the requirement of implementing a national screening program for LS in Morocco.
Assuntos
Neoplasias Colorretais/genética , Proteína 1 Homóloga a MutL/genética , Proteína 2 Homóloga a MutS/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos de Coortes , Neoplasias Colorretais Hereditárias sem Polipose/genética , Reparo de Erro de Pareamento de DNA/genética , Análise Mutacional de DNA , Detecção Precoce de Câncer , Feminino , Predisposição Genética para Doença/genética , Mutação em Linhagem Germinativa , Humanos , Masculino , Pessoa de Meia-Idade , Marrocos/epidemiologia , Proteína 1 Homóloga a MutL/metabolismo , Proteína 2 Homóloga a MutS/metabolismo , Prevalência , Fatores de RiscoRESUMO
BACKGROUND: Myxomas are rare benign soft tissue tumors. The kidney is an unusual location for this tumor. For this reason, less than 15 cases of renal myxoma have been reported in the English literature. There are no specific clinical and radiological features reported for this tumor that allow a preoperative diagnosis enabling a conservative treatment. CASE PRESENTATION: We report another case of renal myxoma found in a 50-year-old Moroccan woman who presented with a right dull flank pain. An abdominal computed tomography scan objectified a suspected malignant renal mass. Thus, radical nephrectomy was performed. Histopathology of the specimen revealed the typical appearance of a myxoma. CONCLUSIONS: The objective of this report is to add another case report of this rare benign renal tumor to the literature. This benign tumor with excellent prognosis has no specific preoperative features that could justify a conservative management; a radical approach remains the therapeutic option for now.
