RESUMO
BACKGROUND: A subsets of ovarian carcinomas (OCs) are related to inherited conditions including Hereditary Breast and Ovarian Cancers (HBOC) and Lynch Syndrome (LS). The identification of inherited conditions using genetic testing might be a strategic model for cancer prevention that include benefits for the ovarian cancer patients and for their family members. METHODS: We describe a retrospective Italian experience for the identification of inherited conditions in 232 patients affected by OCs using both somatic and germline analyses. RESULTS: Immunohistochemical and microsatellite analyses performed on OCs identified 20 out of 101 MMR defective cancers and 15 of these were from patients carriers of the MMR germline pathogenetic variants. BRCA1 and BRCA2 testing offered to 198 OC patients revealed 67 (34%) pathogenetic variant carriers of BRCA1/2 genes. Interestingly LS patients revealed a mean age of OC onset of 45.4 years, which was significantly lower than the mean age of OCs onset of HBOC patients. CONCLUSIONS: Somatic and germline analyses offered to OC patients has proved to be an efficient strategy for the identification of inherited conditions involving OC also in absence of suggestive family histories. The identification of LS and HBOC syndromes through OC patients is an effective tool for OC prevention.
Assuntos
Síndromes Neoplásicas Hereditárias/genética , Neoplasias Ovarianas/genética , Feminino , Genes BRCA1 , Genes BRCA2 , Testes Genéticos , Humanos , Itália , Masculino , Pessoa de Meia-Idade , LinhagemRESUMO
A rare and strong adverse reaction to contrast media (mdc) i.v. injected to carry out an abdominal vessels' angiography is reported. The patient suffered from non cardiogenic pulmonary edema and hypoxia. Chest X-ray detected the same radiological patterns of ARDS: in contrast alveolar edema became insignificant in 5 days. Serum immunocomplexes levels were high in the early phase of the reaction. Serum IgE, C3 and C4 were within the normal ranges. The case can be considered strongly significative because of the rarity of this syndrome; moreover, the early monitoring detected some data which could contribute to the knowledge of the physiopathology of contrast media adverse reaction. Overall, the presence of an immunological disease can increase the risk for adverse reactions to contrast media.
