Pathology of ovarian cancers in BRCA1 and BRCA2 carriers
Pathology of ovarian cancers in BRCA1 and BRCA2 carriers
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DOI：
10.1158/1078-0432.ccr-1029-3
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发表时间：
2004-04-01
影响因子：
11.5
通讯作者：
Easton, DF
中科院分区：
文献类型：
--
作者：
Lakhani, SR;Manek, S;Easton, DF
BRCA 1和BRCA 2基因的生殖系突变增加了卵巢癌的易感性。有证据表明，携带者中的肿瘤可能表现出不同的病理特征分布，但以前对此类肿瘤病理学的研究很少。我们的目的是评估的形态学和免疫表型在一个大的队列中的家族性卵巢cancer.Experimental设计的患者：我们进行了一个系统的审查，从178 BRCA 1突变载体，29 BRCA 2突变载体，和235个控制与一个类似的年龄分布的卵巢肿瘤。肿瘤由四位对突变状态不知情的病理学家进行评估。两种形态学特征和免疫组化染色p53和HER2evaluated.Results：肿瘤BRCA 1突变携带者比肿瘤年龄匹配的对照组更可能是浸润性浆液性腺癌（比值比，1.84; 95%置信区间，1.21-2.79），不太可能是交界性或粘液性肿瘤。BRCA 1携带者的肿瘤级别较高（P < 0.0001），具有较高的固体成分百分比（P 0.001），并且更可能强烈染色p53（P = 0.018）。BRCA 2携带者的病理特征分布与BRCA 1携带者相似。结论：利用病理特征可以显著提高预测性基因检测的靶向性。结果还表明，BRCA 1和BRCA 2肿瘤相对。侵袭性的，并且可能预期具有不良预后，尽管这可能依赖于治疗。
Purpose: Germline mutations in the BRCA1 and BRCA2 genes confer increased susceptibility to ovarian cancer. There is evidence that tumors in carriers may exhibit a distinct distribution of pathological features, but previous studies on the pathology of such tumors have been small. Our aim was to evaluate the morphologies and immunophenotypes in a large cohort of patients with familial ovarian cancer.Experimental Design: We performed a systematic review of ovarian tumors from 178 BRCA1 mutation carriers, 29 BRCA2 mutation carriers, and 235 controls with a similar age distribution. Tumors were evaluated by four pathologists blinded to mutation status. Both morphological features and immunochemical staining for p53 and HER2 were evaluated.Results: Tumors in BRCA1 mutation carriers were more likely than tumors in age-matched controls to be invasive serous adenocarcinomas (odds ratio, 1.84; 95% confidence interval, 1.21-2.79) and unlikely to be borderline or mucinous tumors. Tumors in BRCA1 carriers were of higher grade (P < 0.0001), had a higher percentage solid component (P 0.001), and were more likely to stain strongly for p53 (P = 0.018). The distribution of pathological features in BRCA2 carriers was similar to that in BRCA1 carriers.Conclusions: Use of pathological features can substantially improve the targeting of predictive genetic testing. Results also suggest that BRCA1 and BRCA2 tumors are relatively. aggressive and may be expected to have poor prognosis, although this may be treatment dependent.