MED12外显子2突变在南非患者的子宫平滑肌瘤中很常见。
MED12 exon 2 mutations are common in uterine leiomyomas from South African patients.
作者信息
Mäkinen Netta, Heinonen Hanna-Riikka, Moore Shane, Tomlinson Ian P M, van der Spuy Zephne M, Aaltonen Lauri A
机构信息
Department of Medical Genetics, Genome-Scale Biology Research Program, University of Helsinki, Helsinki, Finland.
出版信息
Oncotarget. 2011 Dec;2(12):966-9. doi: 10.18632/oncotarget.370.
Uterine leiomyomas, or fibroids, are extremely common tumors. Regardless of their benign nature, fibroids can cause considerable morbidity. Women with African ancestry have a threefold increased risk of developing uterine leiomyomas with a greater symptom severity when compared to white women. Recently, we demonstrated that exon 2 of the MED12 gene is somatically altered in up to 70 per cent of uterine leiomyomas in a series of Finnish (Caucasian) patients. To validate these results in other populations, we sequenced a set of 28 uterine leiomyomas for MED12 exon 2 mutations from 18 different Black African or Coloured South African patients. We observed 14 mutation positive lesions (50%). When corrected by tumor size, these results are very similar to those derived in the Finnish material. This study confirms a major role of MED12 in the genesis of leiomyomas, regardless of ethnicity.
子宫平滑肌瘤，即纤维瘤，是极为常见的肿瘤。尽管其性质为良性，但纤维瘤会导致相当大的发病率。与白人女性相比，有非洲血统的女性患子宫平滑肌瘤的风险增加三倍，且症状更严重。最近，我们证明，在一系列芬兰（高加索）患者中，高达70%的子宫平滑肌瘤中MED12基因的外显子2发生了体细胞改变。为了在其他人群中验证这些结果，我们对来自18名不同的非洲黑人或南非混血患者的28个子宫平滑肌瘤进行了MED12外显子2突变测序。我们观察到14个突变阳性病变（50%）。经肿瘤大小校正后，这些结果与芬兰样本中的结果非常相似。这项研究证实了MED12在平滑肌瘤发生过程中的主要作用，无论种族如何。
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