Sandles L G, Shulman L P, Elias S, Photopulos G J, Smiley L M, Posten W M, Simpson J L
Department of Obstetrics and Gynecology, University of Tennessee, Memphis 38103.
Gynecol Oncol. 1992 Nov;47(2):167-71. doi: 10.1016/0090-8258(92)90101-n.
Genetic factors are clearly integral to the etiology of neoplasia. A cancer family syndrome (Lynch syndrome II) consisting of uterine, colon, and ovarian cancer is recognized, but the heritability of isolated endometrial adenocarcinoma has not otherwise been thoroughly investigated. We have performed pedigree studies in index cases with endometrial adenocarcinoma, using spouses as controls. Preliminary results from 64 probands showed four families in which endometrial adenocarcinoma was diagnosed in at least one first-degree relative of the proband (mother, daughter, sister); none showed relatives with colon or ovarian cancer. In none of the 34 control pedigrees did either a mother or sister have endometrial adenocarcinoma. In four other families, multiple first- and second-degree relatives of probands had adenocarcinoma of the uterus, colon, or ovary, presumably representing a cancer family syndrome (Lynch syndrome II).
Our preliminary data not only show familial and probably heritable tendencies for endometrial adenocarcinoma, but further suggest that there are at least two distinct forms: (1) the previously described Lynch syndrome II (cancer family syndrome), and (2) a heretofore unemphasized entity characterized by a tendency to endometrial adenocarcinoma alone.
遗传因素显然是肿瘤形成病因的一个组成部分。一种由子宫癌、结肠癌和卵巢癌组成的癌症家族综合征（林奇综合征II型）已被确认，但孤立性子宫内膜腺癌的遗传性尚未得到全面研究。我们以配偶为对照，对子宫内膜腺癌的索引病例进行了系谱研究。64名先证者的初步结果显示，有4个家族中，先证者的至少一名一级亲属（母亲、女儿、姐妹）被诊断为子宫内膜腺癌；没有一个家族显示有结肠癌或卵巢癌亲属。在34个对照系谱中，母亲或姐妹均无子宫内膜腺癌。在另外4个家族中，先证者的多个一级和二级亲属患有子宫、结肠或卵巢腺癌，可能代表一种癌症家族综合征（林奇综合征II型）。
我们的初步数据不仅显示了子宫内膜腺癌的家族性及可能的遗传倾向，还进一步表明至少有两种不同形式：（1）先前描述的林奇综合征II型（癌症家族综合征），以及（2）一种迄今未被重视的实体，其特征是仅倾向于发生子宫内膜腺癌。
