Casey Murray Joseph, Bewtra Chhanda, Lynch Henry T, Snyder Carrie L, Stacey Mark
Departments of *Obstetrics and Gynecology, †Preventive Medicine and Public Health, and ‡Pathology, Creighton University School of Medicine, Omaha, NE.
Int J Gynecol Cancer. 2015 May;25(4):650-6. doi: 10.1097/IGC.0000000000000402.
The aim of this study was to categorize and report endometrial cancers in mutation carriers from hereditary breast ovarian cancer families.
Our Hereditary Cancer Registry was searched for gynecologic and peritoneal cancers linked to mutations in BRCA1 or BRCA2. Invasive cancers were registered in 101 mutation carriers with complete pathology reports. Efforts were made to secure diagnostic surgical pathology tissues for review. All records and available diagnostic slides were meticulously studied, and primary cancers were classified.
Eight malignancies were classified as primary endometrial cancers. Five of these were low- or intermediate-grade endometrioid carcinomas, and 3 were pure serous carcinomas or contained serous carcinoma elements mixed with high-grade endometrioid carcinoma. Breast cancers were diagnosed in 5 patients before and in 1 patient after endometrial carcinoma. Three endometrioid carcinomas were preceded by estrogen treatment, 2 for many years and the other for only 2 months, and 2 of the patients with serous carcinoma had been treated with tamoxifen.
The finding that 8 of gynecologic and peritoneal cancers in 101 mutation carriers were endometrial cancers with a smaller proportion of endometrioid carcinomas than reported in general populations is added to the current controversial literature on endometrial cancer, particularly regarding serous carcinomas, in hereditary breast ovarian cancer syndrome. Well-designed prospective programs for standardized surgical and pathologic handling, processing, and reporting are essential for working out the pathogenesis, true risks, and best management of this disease in carriers of deleterious BRCA1 and BRCA2 germline mutations.
本研究旨在对遗传性乳腺癌卵巢癌家族中突变携带者的子宫内膜癌进行分类和报告。
在我们的遗传性癌症登记处搜索与BRCA1或BRCA2突变相关的妇科和腹膜癌。对101名有完整病理报告的突变携带者中的浸润性癌症进行登记。努力获取诊断性手术病理组织以供复查。对所有记录和可用的诊断切片进行了细致研究，并对原发性癌症进行了分类。
8例恶性肿瘤被分类为原发性子宫内膜癌。其中5例为低级别或中级别的子宫内膜样癌，3例为纯浆液性癌或含有与高级别子宫内膜样癌混合的浆液性癌成分。5例患者在子宫内膜癌之前被诊断出患有乳腺癌，1例在子宫内膜癌之后被诊断出患有乳腺癌。3例子宫内膜样癌之前接受过雌激素治疗，其中2例长达数年，另1例仅2个月，2例浆液性癌患者曾接受过他莫昔芬治疗。
在101名突变携带者中，有8例妇科和腹膜癌为子宫内膜癌，且子宫内膜样癌的比例低于一般人群的报告，这一发现被纳入了目前关于遗传性乳腺癌卵巢癌综合征中子宫内膜癌，特别是浆液性癌的有争议的文献中。精心设计的标准化手术、病理处理、加工和报告的前瞻性项目对于阐明携带有害BRCA1和BRCA2种系突变的患者中这种疾病的发病机制、真正风险和最佳管理至关重要。
