RESUMO
Apocrine carcinoma of the male breast is an exceptional malignant tumor. It does not have a particular clinical or radiological appearance, but it's microscopically characterized by the presence of granular cells and foamy cells representing over 90% of tumor cells. These cells express most of the time the GCDFP-15 and the androgen receptors. This tumor is a distinct molecular entity. In this observation, we report the case of a 70 year old man presenting apocrine carcinoma of the left breast diagnosed at the stage of lung metastasis.
Assuntos
Glândulas Apócrinas/patologia , Neoplasias da Mama Masculina/patologia , Neoplasias das Glândulas Sudoríparas/patologia , Idoso , Neoplasias da Mama Masculina/diagnóstico , Humanos , Neoplasias Pulmonares/secundário , Masculino , Neoplasias das Glândulas Sudoríparas/diagnósticoRESUMO
BACKGROUND: The RAS/RAF/MEK/MAP kinase cascade transduces signals from the cell surface to the nucleus in order to control cellular responses including proliferation, differentiation and survival. We investigated the occurrence of BRAF exon 15 and KRAS codon 12 and 13 mutations in Moroccan patients with colorectal cancer. METHODS: Sixty-two samples from patients with sporadic colorectal adenocarcinomas were studied for BRAF exon 15 and KRAS codon 12 and 13 mutations. DNA from paraffin-embedded tissue specimens was analyzed by a combination of polymerase chain reaction-high resolution melting and direct sequencing. RESULTS: Of the analyzed specimens, 29% exhibited KRAS codon 12 or 13 mutations and only 1.6% carried a BRAF codon 600 mutation. KRAS mutations were more often observed in women (35.5%) than in men (22.6%). Patients in the age range between 41 and 60 years were more likely to be carriers of this mutation. No KRAS mutations were detected in patients aged >60 years. CONCLUSION: Despite the limited study sample, our data suggest that KRAS mutations arise more frequently than BRAF mutations in Moroccan patients with colorectal carcinomas. The KRAS mutation status must be assessed in a large cohort of Moroccan patients to confirm these findings and to determine whether this mutation in combination with extrinsic, environmental or microenvironmental factors might be involved in the high frequency of colorectal cancer in middle-aged Moroccans.
Assuntos
Adenocarcinoma/genética , Neoplasias Colorretais/genética , Proteínas Proto-Oncogênicas B-raf/genética , Proteínas Proto-Oncogênicas/genética , Proteínas ras/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Sequência de Bases , Códon , Análise Mutacional de DNA , Éxons , Feminino , Predisposição Genética para Doença , Humanos , Masculino , Pessoa de Meia-Idade , Marrocos , Mutação , Proteínas Proto-Oncogênicas p21(ras) , Análise de Sequência de DNARESUMO
Giant-cell tumor is a rare benign tumor that generally arises in long bones of the lower extremity in adults. The involvement of the metacarpal bone in children is extremely rare. The authors report the case of an 8-year-old boy admitted for a painless swelling of the posterior surface of the fourth right metacarpal bone. The radiological examination showed an expansile osteolytic lesion with a multilocular appearance. Total resection of the metacarpal bone and reconstruction with free fibular graft was performed. We highlight the rarity of this neoplasm in childhood and discuss epidemiological, clinical, radiological, and therapeutical characteristics of this pathology.
