RESUMO
The molecular pathogenesis of hepatocellular carcinoma, a tumour characterized by a vast clinical heterogeneity, remains unexplored outside Europe and Eastern Asia. We analysed by direct sequencing or loss of heterozygosity assay, the common targets of genomic alterations in 42 hepatocellular carcinomas collected in western North-Africa. Overall, genomic instability was uncommon, allelic losses affecting mostly chromosomes 1p, 4q, 8p and 17p (24-28% of cases). CTNNB1 and TP53 were infrequently mutated (9 and 17% of cases, respectively). Surprisingly, TP53 mutation R249S, diagnostic of aflatoxin B1 exposure, usually frequent in Africa, was exceptional (one case), indicating that in western North-Africa, hepatocellular carcinoma genetics differs markedly from that of the remainder of the continent.
Assuntos
Carcinoma Hepatocelular/genética , Instabilidade Genômica , Neoplasias Hepáticas/genética , Adulto , Idoso , Carcinoma Hepatocelular/epidemiologia , Feminino , Genes p53/genética , Heterogeneidade Genética , Humanos , Neoplasias Hepáticas/epidemiologia , Perda de Heterozigosidade , Masculino , Pessoa de Meia-Idade , Marrocos/etnologia , Mutação , Tunísia/etnologia , beta Catenina/genéticaRESUMO
We report the case of a 57-year-old patient with primary malignant melanoma of the mediastinum who survived nine months despite immunotherapy, radiotherapy and chemotherapy. The primary nature of the intrathoracic melanoma was difficult to prove. Definitive diagnosis was based on the uniform morphology of the melanoma which showed junctional anomalies at the histology examination with tracheo-bronchial and esophageal localizations as well as on the absence of other patent or formerly resected melanocyte-rich localizations (skin, mucosa, ocular) at clinical examination and autopsy.