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Diagn Pathol ; 10: 77, 2015 Jun 24.
Artigo em Inglês | MEDLINE | ID: mdl-26104511

RESUMO

BACKGROUND: Colorectal Cancers (CRC) are one of the most common malignancies in the world. Their incidence in Morocco, between 2005 and 2007, was 5.6 for 100000 inhabitants, which is very low compared to what found in developed countries. In addition, CRCs show a high frequency of rectal localizations, and occurs in a younger population in Morocco compared to what found in developed countries. The purpose of this study is to confirm these CRC peculiarities in Morocco and try to explain them by exploring the microsatellite instability molecular pathway. METHODS: This is a prospective observational study conducted since January 2010, including 385 patients admitted in Hassan II University Hospital of Fez. We collected clinical, radiological and pathological data. We investigated the expression of mismatch repair (MMR) proteins in 214 patients and BRAF gene mutations in 159 patients. RESULTS: Mean age was 55.08 +/- 15.16 years. 36.5% of patients were less than 50 years old and 49.3% of tumors were localized in the rectum. Loss of MMR protein expression was observed in 11.2% of cases. It was independently associated with individual or family history of cancer belonging to Hereditary Non-Polyposis Colorectal Cancer (HNPCC) spectrum (p = 0.01) and proximal localization (p = 0.02). No BRAF mutation was detected in all cases. CONCLUSIONS: These results confirm the high occurrence of CRCs to young patients and the high frequency of rectal localizations in Moroccan population. They mostly show an absence of BRAF mutation, supposing a rarity of MLH1 promoter hypermethylation pathway, which may even partially explain the CRC peculiarities in our context. VIRTUAL SLIDES: The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/5868184711716884.


Assuntos
Adenocarcinoma/genética , Biomarcadores Tumorais/genética , Neoplasias Colorretais/genética , Reparo de Erro de Pareamento de DNA/genética , Instabilidade de Microssatélites , Proteínas Adaptadoras de Transdução de Sinal/análise , Proteínas Adaptadoras de Transdução de Sinal/genética , Adenocarcinoma/química , Adenocarcinoma/epidemiologia , Adulto , Idade de Início , Idoso , Biomarcadores Tumorais/análise , Neoplasias Colorretais/química , Neoplasias Colorretais/epidemiologia , Metilação de DNA , Análise Mutacional de DNA , Países em Desenvolvimento , Feminino , Predisposição Genética para Doença , Hospitais Universitários , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade , Marrocos/epidemiologia , Proteína 1 Homóloga a MutL , Mutação , Proteínas Nucleares/análise , Proteínas Nucleares/genética , Fenótipo , Regiões Promotoras Genéticas , Estudos Prospectivos , Proteínas Proto-Oncogênicas B-raf/genética , Fatores de Risco
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