Primary ovarian dysgerminoma in a patient with a germline BRCA1 mutation.
Primary ovarian dysgerminoma in a patient with a germline BRCA1 mutation.
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患有生殖系 BRCA1 突变的原发性卵巢无性细胞瘤。
DOI：
10.1097/00004347-200010000-00017
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发表时间：
2000
期刊：
影响因子：
--
通讯作者：
Piver,MS
中科院分区：
文献类型：
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作者：
Werness,BA;Ramus,SJ;Whittemore,AS;Garlinghouse-Jones,K;Oakley-Girvan,I;DiCioccio,RA;Tsukada,Y;Ponder,BA;Piver,MS
BRCA1肿瘤抑制基因的生殖系突变与卵巢癌发生风险增加相关。到目前为止，所有这些癌症都是上皮组织学类型。我们在回顾Gilda Radner家族性卵巢癌登记处登记的女性卵巢癌组织病理学特征的过程中，发现了一名有卵巢癌家族史的16岁女性（先证者）的卵巢无性细胞瘤。该患者外周血白细胞DNA突变分析显示生殖系BRCA1突变（3312insG）。这种突变也存在于患有乳腺癌的母亲，患有卵巢癌的姨妈和远房表亲，以及患有皮肤癌的祖父和叔叔中。先证者无性细胞瘤的发生可能与其生殖系BRCA1突变无关。或者，这种无性细胞瘤可能是由BRCA1突变引起的，但与上皮癌相比，它们很少发生，因此很少被识别。对一系列卵巢生殖细胞肿瘤的分析可能会解决这个问题。
Germline mutations in the BRCA1 tumor suppressor gene are associated with increased risk for the development of ovarian cancer. All such cancers thus far reported have been of the epithelial histologic type. We identified an ovarian dysgerminoma in a 16-year-old woman (proband) with a family history of ovarian cancer during a review of histopathologic characteristics of ovarian cancers from women enrolled in the Gilda Radner Familial Ovarian Cancer Registry. Mutation analysis of DNA from this patient's peripheral blood leukocytes revealed a germline BRCA1 mutation (3312insG). The mutation was also present in the mother with breast cancer, a maternal aunt and a distant cousin with ovarian cancer, and a maternal grandfather and an uncle with skin cancer. The development of the proband's dysgerminoma may be unrelated to her germline BRCA1 mutation. Alternatively, such dysgerminomas may be caused by BRCA1 mutations, but occur so infrequently compared with epithelial cancers that they are seldom identified. Analysis of a larger series of ovarian germ cell tumors may resolve this question.