Cass Ilana, Holschneider Christine, Datta Nandini, Barbuto Denise, Walts Ann E, Karlan Beth Y
Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, University of California Los Angeles, Cedars-Sinai Medical Centers, CA 90048, USA.
Obstet Gynecol. 2005 Dec;106(6):1327-34. doi: 10.1097/01.AOG.0000187892.78392.3f.
To compare clinical and histologic features between fallopian tube cancers in women with germline BRCA mutations and sporadic cases.
Twenty-eight patients with fallopian tube cancer had BRCA mutation testing using multiplex polymerase chain reaction and protein truncation testing. Histologic slides were reviewed by 2 pathologists, and immunohistochemical staining for p53, ki67, estrogen receptor, and progesterone receptor was performed on carcinomas and dysplastic and benign tubal epithelia.
Twelve of 28 (43%) women had BRCA mutations: 11 BRCA1, 1 BRCA2. Excluding 4 cases found at prophylactic surgery, the median age of diagnosis of BRCA mutation carriers was 57 years compared with 65 years among sporadic cases (P = .09). Patients with BRCA-associated fallopian tube cancer had a median survival time of 68 months compared with 37 months when compared with sporadic cases (P = .14). Both groups had predominantly advanced stage, high grade, serous fallopian tube cancers. No patient had exclusively proximal disease. Occult fallopian tube cancer diagnosed at prophylactic surgery in BRCA mutation carriers was exclusively distal. "Skip" areas of high-grade dysplasia were only seen in 2 patients, both of whom were BRCA mutation carriers. There were no differences in the immunohistochemical staining for p53, ki67, estrogen receptor or progesterone receptor in carcinomas and dysplastic or benign epithelia of patients with or without BRCA mutations. Overexpression of p53 was commonly seen in fallopian tube cancers and dysplastic epithelium, but rarely noted in benign epithelium.
Fallopian tube cancer is part of the BRCA mutation phenotype and seems to share many clinical features with sporadic fallopian tube cancers, including no exclusively proximal disease. The presentation of BRCA-associated fallopian tube cancers may, however, occur at a younger age and have an improved survival.
比较携带种系BRCA突变的女性输卵管癌与散发性病例的临床和组织学特征。
28例输卵管癌患者采用多重聚合酶链反应和蛋白质截短检测进行BRCA突变检测。2名病理学家对组织学切片进行复查，并对癌组织、发育异常和良性输卵管上皮进行p53、ki67、雌激素受体和孕激素受体的免疫组化染色。
28例女性中有12例（43%）携带BRCA突变：11例为BRCA1突变，1例为BRCA2突变。排除预防性手术中发现的4例，BRCA突变携带者的诊断中位年龄为57岁，而散发性病例为65岁（P = 0.09）。与散发性病例相比，BRCA相关输卵管癌患者的中位生存时间为68个月，而散发性病例为37个月（P = 0.14）。两组主要为晚期、高级别、浆液性输卵管癌。没有患者仅表现为近端疾病。BRCA突变携带者在预防性手术中诊断出的隐匿性输卵管癌仅为远端。仅在2例患者中发现高级别发育异常的“跳跃”区域，这2例均为BRCA突变携带者。BRCA突变患者与非BRCA突变患者的癌组织、发育异常或良性上皮的p53、ki67、雌激素受体或孕激素受体免疫组化染色无差异。p53过表达在输卵管癌和发育异常上皮中常见，但在良性上皮中罕见。
输卵管癌是BRCA突变表型的一部分，似乎与散发性输卵管癌有许多临床特征相同，包括不存在仅近端疾病。然而，BRCA相关输卵管癌的发病年龄可能较轻，生存期有所延长。
