Clinicopathologic features of BRCA-linked and sporadic ovarian cancer
Clinicopathologic features of BRCA-linked and sporadic ovarian cancer
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DOI：
10.1001/jama.283.17.2260
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发表时间：
2000-05-03
影响因子：
120.7
通讯作者：
Hoskins, WJ
中科院分区：
文献类型：
--
作者：
Boyd, J;Sonoda, Y;Hoskins, WJ
大多数遗传性卵巢癌与 BRCA1 或 BRCA2 种系突变有关。试图定义 BRCA 突变状态在卵巢癌中的临床意义，但产生了相互矛盾的结果，特别是在生存方面。目的 确定遗传性卵巢癌与散发性（非遗传性）卵巢癌相比是否具有独特的临床和病理特征。设计和设置 对我们机构（国家癌症研究所指定的综合癌症中心）在 12 年（12 月）期间连续诊断和治疗的 933 例卵巢癌的回顾性队列研究1986 年至 1998 年 8 月）。患者 该研究仅限于犹太血统患者，因为该种族群体易于进行 BRCA1 和 BRCA2 基因分型。在 189 名自认是犹太人的患者中，88 名遗传性病例被鉴定为存在 BRCA1 或 BRCA2 种系创始人突变，其余 101 名来自同一系列的与 BRCA 突变无关的病例以及来自临床试验（用于生存分析）的另外 2 个卵巢癌组（妇科肿瘤组方案 52 和 111）被纳入比较。 主要结果指标 诊断时的年龄、手术分期、组织学细胞类型和等级以及手术结果；结果 遗传性癌症在 40 岁之前很少被诊断出来，而在 60 岁之后很常见，BRCA1 相关患者与 BRCA2 相关患者的平均诊断年龄明显更年轻（54 岁 vs 62 岁；P=.04）。遗传性和散发性病例的组织学、分级、分期和细胞减灭术的成功率相似。与非遗传性组相比，遗传性组初次化疗后的无病间隔期更长，中位复发时间分别为 14 个月和 7 个月（P
Context Most hereditary ovarian cancers are associated with germline mutations in BRCA1 or BRCA2. Attempts to define the clinical significance of BRCA mutation status in ovarian cancer have produced conflicting results, especially regarding survival.Objective To determine whether hereditary ovarian cancers have distinct clinical and pathological features compared with sporadic (nonhereditary) ovarian cancers.Design and Setting Retrospective cohort study of a consecutive series of 933 ovarian cancers diagnosed and treated at our institution, which is a comprehensive cancer center as designated by the National Cancer Institute, over a 12-year period (December 1986 to August 1998).Patients The study was restricted to patients of Jewish origin because of the ease of BRCA1 and BRCA2 genotyping in this ethnic group. From the 189 patients who identified themselves as Jewish, 88 hereditary cases were identified with the presence of a germline founder mutation in BRCA1 or BRCA2, The remaining 101 cases from the same series not associated with a BRCA mutation and 2 additional groups (Gynecologic Oncology Group protocols 52 and 111) with ovarian cancer from clinical trials (for the survival analysis) were included for comparison.Main Outcome Measures Age at diagnosis, surgical stage, histologic cell type and grade, and surgical outcome; and response to chemotherapy and survival for advanced-stage (III and IV) cases.Results Hereditary cancers were rarely diagnosed before age 40 years and were common after age 60 years, with mean age at diagnosis being significantly younger for BRCA1- vs BRCA2-linked patients (54 vs 62 years; P=.04). Histology, grade, stage, and success of cytoreductive surgery were similar for hereditary and sporadic cases. The hereditary group had a longer disease-free interval following primary chemotherapy in comparison with the nonhereditary group, with a median time to recurrence of 14 months and 7 months, respectively (P