Di Tommaso Silvia, Massari Serafina, Malvasi Antonio, Vergara Daniele, Maffia Michele, Greco Marilena, Tinelli Andrea
University of Salento, Department of Biological and Environmental Sciences and Technologies , 73100 Lecce , Italy.
Expert Opin Ther Targets. 2015 Jan;19(1):7-12. doi: 10.1517/14728222.2014.975793. Epub 2014 Nov 1.
Mutations in Mediator Complex Subunit 12 (MED12) gene are typical genomic aberrations, commonly detected in a high percentage of uterine leiomyomas (ULs). The aim of this investigation was to define the fibroid or non-tumor origin of uterine leiomyoma pseudocapsule (PC) surrounding fibroids and its possible therapeutic targets in uterine fibroid management.
A non-randomized observational study was performed on 36 women, not subjected to any previous drug treatment, undergoing laparoscopic intracapsular myomectomy. Specimens of myometrium (UM), ULs and corresponding PCs were sampled to analyze MED12 gene status, by direct sequencing of exon 2.
Defining the status of MED12 gene in PCs associated to ULs harboring mutations.
PCs always showed a wild type MED12 gene status, even when associated to a UL harboring a specific MED12 aberration.
The wild-type status of MED12 gene in the PCs indicates the non-tumoral origin of this structure: it appears as a protective structure for the healthy tissue that could enhance regenerative mechanisms. The limitations of this study, as the restrained number of patients, will be solved in the future extending the analysis to a larger cohort of women, as tester of such pharmacological treatments on PC.
中介体复合物亚基12（MED12）基因的突变是典型的基因组畸变，在高比例的子宫平滑肌瘤（UL）中普遍检测到。本研究的目的是确定子宫肌瘤周围子宫平滑肌瘤假包膜（PC）的肌瘤或非肿瘤起源及其在子宫肌瘤治疗中的可能治疗靶点。
对36名未接受过任何药物治疗的女性进行了一项非随机观察性研究，这些女性接受了腹腔镜囊内肌瘤切除术。采集子宫肌层（UM）、UL和相应PC的样本，通过对第2外显子进行直接测序来分析MED12基因状态。
确定与携带突变的UL相关的PC中MED12基因的状态。
即使与携带特定MED12畸变的UL相关，PC始终显示野生型MED12基因状态。
PC中MED12基因的野生型状态表明该结构的非肿瘤起源：它似乎是健康组织的一种保护结构，可增强再生机制。本研究的局限性，如患者数量有限，将在未来通过将分析扩展到更大的女性队列来解决，作为对PC进行此类药物治疗的试验对象。
