Holzmann Carsten, Markowski Dominique Nadine, Bartnitzke Sabine, Koczan Dirk, Helmke Burkhard Maria, Bullerdiek Jörn
Institute of Medical Genetics, University Rostock Medical Center, Ernst-Heydemann-Strasse 8, D-18057 Rostock, Germany.
Center of Human Genetics, University of Bremen, Leobener Strasse ZHG, D-28359 Bremen, Germany.
Mol Cytogenet. 2015 Oct 14;8:76. doi: 10.1186/s13039-015-0177-9. eCollection 2015.
Mutations of mediator subcomplex 12 (MED12) and of high mobility group protein AT-hook 2 (HMGA2) are driver mutations in uterine leiomyomas (UL) that have not been observed to coexist in one tumor and even rarely coexist in different UL tumors of one patient. Here we describe a patient who underwent hysterectomy because of multiple leiomyomas which were studied by cytogenetics, MED12 hotspot sequencing, and copy number variation arrays. Two of the UL tumors had different HMGA2 rearrangements not detected by G-banding. Two UL tumors had deletions of the long arm of chromosome 3, in one case associated with a MED12 mutation. Both deletions lead to the loss of MED12L showing strong similarity with MED12. It remains to be determined if this gene can play a role in leiomyomagenesis independent of MED12. In summary, the patient presented exhibits an unusual coincidence of different driver mutations among her leiomyomas.
中介体亚复合物12（MED12）和高迁移率族蛋白AT钩2（HMGA2）的突变是子宫平滑肌瘤（UL）中的驱动突变，尚未观察到它们在一个肿瘤中共存，甚至在一名患者的不同UL肿瘤中也很少共存。在此，我们描述了一名因多发性平滑肌瘤接受子宫切除术的患者，这些平滑肌瘤通过细胞遗传学、MED12热点测序和拷贝数变异阵列进行了研究。其中两个UL肿瘤具有不同的HMGA2重排，G显带未检测到。两个UL肿瘤存在3号染色体长臂缺失，其中一例与MED12突变相关。两种缺失均导致MED12L丢失，MED12L与MED12具有很强的相似性。该基因是否能独立于MED12在平滑肌瘤发生中发挥作用仍有待确定。总之，该患者的平滑肌瘤中出现了不同驱动突变的异常巧合。
