Rohen C, Caselitz J, Stern C, Wanschura S, Schoenmakers E F, Van de Ven W J, Bartnitzke S, Bullerdiek J
Center of Human Genetics and Genetic Counselling, University of Bremen, Germany.
Cancer Genet Cytogenet. 1995 Oct 1;84(1):82-4. doi: 10.1016/0165-4608(95)00060-7.
Cytogenetic studies of a breast adenolipoma (hamartoma) of a 58-year-old patient revealed a karyotype 46,XX,add(4)(?),add(6)(q?),der(7)t(7;12)(q11.1 or q11.2;q11 or q12),der(12). To our knowledge, this is the second report of an aberration involving 12q12-15 in a hamartoma of the breast. By FISH studies, we found this chromosome 12 translocation breakpoint to be mapping within the MAR (Multiple Aberration Region). MAR is known to be a major cluster region of chromosome 12 breakpoints of benign solid tumors such as uterine leiomyoma, lipoma, and pleomorphic salivary gland adenomas, therefore raising the possibility that the same gene is involved in hamartoma of the breast as in these three benign solid tumors.
对一名58岁患者的乳腺腺脂肪瘤(错构瘤)进行细胞遗传学研究,结果显示其核型为46,XX,add(4)(?),add(6)(q?),der(7)t(7;12)(q11.1或q11.2;q11或q12),der(12)。据我们所知,这是第二例关于乳腺错构瘤中涉及12q12 - 15畸变的报告。通过荧光原位杂交(FISH)研究,我们发现该12号染色体易位断点定位于MAR(多重畸变区域)内。已知MAR是子宫平滑肌瘤、脂肪瘤和多形性腺瘤等良性实体瘤12号染色体断点的主要聚集区域,因此增加了乳腺错构瘤与这三种良性实体瘤涉及相同基因的可能性。