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1.
Dis Markers ; 2019: 3210710, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31885734

RESUMO

BACKGROUND: Tumors with microsatellite instability (MSI tumors) have distinct clinicopathological features. However, the relation between these tumor subtypes and survival in colon cancer remains controversial. The aim of this study was to evaluate the overall survival (OS) in patients with MSI phenotype, in FES population. METHODS: The expression of MMR proteins was evaluated by immunohistochemistry for 330 patients. BRAF, KRAS, and NRAS mutations were examined by Sanger sequencing and pyrosequencing methods. The association of MSI status with a patient's survival was assessed by the Kaplan-Meier method and log-rank test. RESULTS: The mean age was 54.6 years (range of 19-90 years). The MSI status was found in 11.2% of our population. MSI tumors were significantly associated with male gender, younger patients, stage I-II, right localization, and a lower rate of lymph node and distant metastasis. The OS tends to be longer in MSI tumors than MSS tumors (109.71 versus 74.08), with a difference close to significance (P = 0.05). CONCLUSION: Our study demonstrates that MSI tumors have a particular clinicopathological features. The results of survival analysis indicate that the MSI status was not predictive of improved overall survival in our context with a lower statistical significance (P = 0.05) after multivariate analysis.


Assuntos
Neoplasias do Colo/genética , Neoplasias do Colo/mortalidade , Instabilidade de Microssatélites , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias do Colo/patologia , Reparo de Erro de Pareamento de DNA , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Marrocos , Estadiamento de Neoplasias , Prognóstico , Análise de Sobrevida , Adulto Jovem
2.
Pan Afr Med J ; 28: 286, 2017.
Artigo em Francês | MEDLINE | ID: mdl-29942418

RESUMO

Fanconi anemia is a recessive disorder associated with chromosomal instability. It is marked by phenotypical heterogeneity which includes medullary deficiency, a variable malformation syndrome, a predisposition to develop acute leukaemias myéloïdes (ALM) and a cellular over-sensitiveness with the agents bridging the ADN. The diagnosis is based on the abnormal increase in the rate of spontaneous breaks chromosomal but especially and in a specific way, on a clear increase in these chromosomal breaks in the presence of bifunctional alkylating agents, which is the case in our six patients. Genetic counseling is that available for autosomal recessive diseases. We report our initial observations conducted at the University Hospital (CHU) Hassan II of Fez confirmed by the detection of a large chromosomal instability after culture with Mitomycin C compared to a normal control group. The purpose of this study was to update our knowledge of Fanconi anemia genes and to highlight the role of cytogenetics in its diagnosis and the genetic counseling for better management of affected children and their families.


Assuntos
Instabilidade Cromossômica/genética , Análise Citogenética/métodos , Anemia de Fanconi/diagnóstico , Criança , Pré-Escolar , Anemia de Fanconi/genética , Feminino , Aconselhamento Genético/métodos , Hospitais Universitários , Humanos , Masculino , Marrocos , Estudos Retrospectivos
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