RESUMO
Malignant pleural mesothelioma (MPM) is a rare, aggressive cancer caused by asbestos exposure. An inherited predisposition has been suggested to explain multiple cases in the same family and the observation that not all individuals highly exposed to asbestos develop the tumor. Germline mutations in BAP1 are responsible for a rare cancer predisposition syndrome that includes predisposition to mesothelioma. We hypothesized that other genes involved in hereditary cancer syndromes could be responsible for the inherited mesothelioma predisposition. We investigated the prevalence of germline variants in 94 cancer-predisposing genes in 93 MPM patients with a quantified asbestos exposure. Ten pathogenic truncating variants (PTVs) were identified in PALB2, BRCA1, FANCI, ATM, SLX4, BRCA2, FANCC, FANCF, PMS1 and XPC. All these genes are involved in DNA repair pathways, mostly in homologous recombination repair. Patients carrying PTVs represented 9.7% of the panel and showed lower asbestos exposure than did all the other patients (p = 0.0015). This suggests that they did not efficiently repair the DNA damage induced by asbestos and leading to carcinogenesis. This study shows that germline variants in several genes may increase MPM susceptibility in the presence of asbestos exposure and may be important for specific treatment.
Assuntos
Amianto/toxicidade , Carcinógenos/toxicidade , Reparo do DNA/genética , Exposição Ambiental/efeitos adversos , Poluentes Ambientais/toxicidade , Predisposição Genética para Doença , Mutação em Linhagem Germinativa , Neoplasias Pulmonares/genética , Mesotelioma/genética , Neoplasias Pleurais/genética , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Neoplasias Pulmonares/etiologia , Masculino , Mesotelioma/etiologia , Mesotelioma Maligno , Pessoa de Meia-Idade , Neoplasias Pleurais/etiologia , Fatores de Risco , Proteínas Supressoras de Tumor/genética , Ubiquitina Tiolesterase/genéticaRESUMO
Adenomatoid tumour is a benign rare lesion of the female genital tract, localised in the wall of fallopian tubes or beneath the uterine serosa. It is often accompanied by smooth muscle proliferation, obscuring the presence of adenomatoid tumour, resulting in misdiagnosis of cellular leiomyoma.Here, a case of uterine serosal adenomatoid tumour associated with multiple leiomyomas and pelvic endometriosis in a 44-year-old woman who underwent surgical removal for uterine bleeding and abdominal pain is presented.