RESUMO
The demographic and clinical characteristics of patients who have BRCA 1/BRCA 2 pathogenic/likely pathogenic variants may differ from their relatives who had BRCA-related cancer. In this study, we aimed to demonstrate the clinical and demographic findings of patients who had BRCA-related cancer and to assess the differences comparing their relatives who had BRCA-related cancer with breast, genital tract, prostate, and pancreas cancers as well. The results of sequencing analysis of 200 cancer patients (190 women, 10 men) who have been directed to genetic counseling with an indication of BRCA1/BRCA2 testing from different regions across 9 medical oncology centers were retrospectively analyzed. A total of 200 consecutive cancer patients who harbored the BRCA1/BRCA2 pathogenic/likely pathogenic variant (130 (65%) patients harbored BRCA 1 pathogenic/likely pathogenic variant, and 70 harbored BRCA 2 pathogenic/likely pathogenic variant) were included. Of these, 64.0% had breast cancer (43.8% of them had the triple-negative disease, and about 2.3% had only the HER-2 mutant), 31.5% had genital cancers (92.1% of them had ovarian cancer, 3.2% had endometrium, and 1.6% had peritoneum cancer as the primary site and mostly serous adenocarcinoma was the most common histopathology and 14.3% of the patients had endometrioid adenocarcinoma), 3.5% had prostate (median time from metastasis to castration-resistant status was 28 months) and 1.0% had pancreas cancer. Newly diagnosed cancer (breast and ovary) patients who had BRCA 1/BRCA 2 pathogenic/ likely pathogenic variant were younger than their previous cancer diagnosed (breast, ovary, and pancreas) parents who harbored BRCA pathogenic/likely pathogenic variant. We suggest that the genetic screening of BRCA 1/ BRCA 2 pathogenic/likely pathogenic variant is needed as a routine screening for those with a personal or family history of breast, ovarian, tubal, or peritoneal cancer. In addition, once BRCA 1 or BRCA 2 germline pathogenic variant has been identified in a family, testing of at-risk next-generation relatives earlier can identify those family members who also have the familial pathogenic variant, and thus need increased surveillance.
RESUMO
PURPOSE: The objectives of this prospective study are to compare intravenous contrast-enhanced (CE) fluorine-18-fluorodeoxyglucose (F-FDG) PET/computed tomography (CE F-FDG PET/CT) with conventional methods (CT/MRI) and to evaluate the relationship of maximum standardized uptake value (SUVmax) with Fuhrman grade in patients with renal tumors. PATIENTS AND METHODS: A total of 62 patients [35 males and 27 females; mean age 55.8±12.7 (range: 27-81) years] were enrolled in the study. CE F-FDG PET/CT scanning included whole-body (early) and abdominal imaging (late) 1 and 2 h after intravenous F-FDG administration, respectively. SUVmax was calculated for primary tumors. CE F-FDG PET/CT and CT/MRI findings were compared with respect to primary tumors and staging. RESULTS: The sensitivity of CE F-FDG PET/CT in primary tumor detection was 98%, which was very close to that of CT/MRI (100%). CE F-FDG PET/CT resulted in correct staging in 84% of the cases, compared with 68% of the cases with conventional methods (52 vs. 42 patients). SUVmax values of early PET for the primary tumors were significantly correlated with the Fuhrman grades (P<0.001). CE F-FDG PET/CT enabled the detection of synchronous tumors in four patients, one of which was incorrectly diagnosed as having metastasis by CT. Distant metastases were detected in 16 patients with CE F-FDG PET/CT and in 13 patients with routine conventional methods. CONCLUSION: CE F-FDG PET/CT showed similar results compared with CT/MRI in the detection of primary tumors, but it was superior to conventional methods in the detection of metastasis and staging. Given the highly significant correlation between SUVmax values and the Fuhrman grading, CE F-FDG PET/CT may play a significant role in the evaluation of patient prognosis.
