HMGA gene rearrangement is a recurrent somatic alteration in polypoid endometriosis
作者： Fabiola Medeiros , Xiaoke Wang , Ana Rose C. Araujo , Michele R. Erickson-Johnson , Joema F. Lima
DOI: 10.1016/J.HUMPATH.2011.09.013
关键词: Stroma 、 HMGA 、 Endometriosis 、 Pathology 、 Gene rearrangement 、 Cancer research 、 Pathogenesis 、 Fluorescence in situ hybridization 、 Somatic cell 、 HMGA2 、 Biology
摘要: The pathogenesis of endometriosis is unclear, and several genetic, endocrine, immune, environmental agents have been evaluated with no putative causative factors identified. Here, we show somatic genetic alterations involving HMGA1 (6p21) HMGA2 (12q15) in 3 cases polypoid endometriosis. lesions involved the small bowel mesentery perirectal soft tissue 1 case posterior vaginal fornix sigmoid colon serosa 2 other cases, respectively. All had a configuration cystically dilated irregular glands fibrotic stroma, containing thick-walled vessels. Conventional cytogenetic analysis showed 46,XX,t(5;12)(q13;q15) all metaphases. Fluorescence situ hybridization studies confirmed balanced rearrangement HMGA2. rearrangements were present additional cases. Rearrangements exclusively found stromal component but not glandular component. These findings suggest that HMGA likely contribute to However, are needed better define biologic role this alteration.
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