MED12 mutations occurring in benign and malignant mammalian smooth muscle tumors
MED12 mutations occurring in benign and malignant mammalian smooth muscle tumors
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DOI：
10.1002/gcc.22029
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发表时间：
2013-03-01
影响因子：
3.7
通讯作者：
Bullerdiek, Joern
中科院分区：
文献类型：
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作者：
Markowski, Dominique Nadine;Huhle, Sonja;Bullerdiek, Joern
介质亚复合物12基因（MED 12）的突变最近已被描述在一个大组的子宫平滑肌瘤（UL），但只有在一个单一的恶性子宫平滑肌肿瘤。为了进一步解决平滑肌肿瘤中纤维瘤型MED 12突变的发生，我们分析了来自34例平滑肌瘤（LMS）、21例UL、2例子宫外平滑肌瘤（EL）和10例犬生殖器平滑肌瘤的样本中UL型MED 12突变的存在。有趣的是，除了UL MED 12突变被发现在一个子宫LMS，EL，和两个犬阴道平滑肌瘤。结果证实了恶性子宫平滑肌肿瘤中存在纤维瘤型MED 12突变，从而提示了一种罕见但存在的平滑肌瘤-LMS序列。此外，首次在非灵长类哺乳动物的平滑肌肿瘤中报告了MED 12突变。(c)2012 Wiley Periodicals，Inc.
Mutations of the mediator subcomplex 12 gene (MED12) recently have been described in a large group of uterine leiomyomas (UL) but only in a single malignant uterine smooth muscle tumor. To further address the occurrence of fibroid-type MED12 mutations in smooth muscle tumors, we have analyzed samples from 34 leiomyosarcomas (LMS), 21 UL, two extrauterine leiomyomas (EL), and 10 canine genital leiomyomas for the presence of MED12 mutations of the UL-type. Interestingly, besides UL MED12 mutations were found in one uterine LMS, one EL, and two canine vaginal leiomyomas. The results confirm the occurrence of fibroid-type MED12 mutations in malignant uterine smooth muscle tumors thus suggesting a rare but existing leiomyoma-LMS sequence. In addition, for the first time MED12 mutations are reported in smooth muscle tumors in a non-primate mammalian species. (c) 2012 Wiley Periodicals, Inc.