发表于2013年2月份CAP TODAY中的解剖病理学摘要，欢迎各位网友翻译，加分从优额

BRCA1 and BRCA2 mutations,TP53 abnormalities, and immune cell infiltrates in ovarian carcinoma

The authors characterized BRCA1 and BRCA2 status (mutation/methylation) in a consecutive series of cases of ovarian carcinoma to identify differences in clinicopathological features, molecular characteristics, and outcome between the pelvic high-grade serous cancers with germline or somatic mutations in BRCA1 or BRCA2, methylation of BRCA1, and normal BRCA1 or BRCA2. A total of 131 women were identified  prospectively,all of whom were undergoing surgical staging and agreed to germline testing for BRCA1
and BRCA2 mutations. Histopathology, germline and somatic BRCA1 or BRCA2 mutations, BRCA1 methylation, and BRCA1 and BRCA2 mRNA expression levels distinguished four subgroups.
In all, 103 cases were high-grade serous carcinoma, and of these, 31 (30 percent) had germline
or somatic BRCA1 or BRCA2 mutations (20 percent BRCA1 and 10 percent BRCA2; group one); 21 (20 percent) had methylation of BRCA1 (group two); and 51 (50 percent) had no BRCA loss (group three). Group four consisted of 28 cases of non-high–grade serous carcinoma, none of which had BRCA loss. BRCA1 and BRCA2 mRNA expression levels correlated with designated group (P=.0008). Among high-grade serous carcinomas, there were no differences between groups one through three with respect to stage, ascites, CA125 level, platinum sensitivity, cytoreduction rate, neoadjuvant chemotherapy, or survival. Tumors
with BRCA1 or BRCA2 mutations had increased immune infiltrates (CD20 and TIA-1) compared with high-grade serous tumors without mutations (P=.034; .027). TP53 expression differed between groups (P<.0001), with abnormal TP53 expression in 49 of 50 tumors from groups one and two. Wildtype TP53 expression was associated with worse outcome in high-grade serous tumors (P<.001). BRCA loss (mutation/methylation) is a common event in pelvic high-grade serous tumors (50 percent). TP53 abnormalities and increased immune
cell infiltrates are significantly more common in high-grade serous tumors with germline and somatic
mutations in BRCA1 or BRCA2 compared with tumors lacking BRCA abnormalities.

McAlpine JN, Porter H, Köbel M, et al. BRCA1 and BRCA2 mutations correlate with TP53 abnormalities and presence of immune cell infiltrates in ovarian high-grade serous carcinoma. Mod Pathol. 2012;25:740–750.