HMGA gene rearrangement is a recurrent somatic alteration in polypoid endometriosis

Fabiola Medeiros, Fabíola Medeiros, Medeiros F, Peijian Wang, Xiaoke Wang, Wang X, Ana Rose C. de Araujo, Araujo AR, Ana Rose C Araujo, Michele R Erickson-Johnson, Michele R. Erickson‐Johnson, Erickson-Johnson MR, Joema F Lima, Joema Felipe Lima, Lima JF, Meuter A, Alexandra Meuter, Boris Winterhoff, Winterhoff B, André M. Oliveira, Andre M Oliveira, Oliveira AM
Human pathology · 2012 · vol. 43(8) , pp. 1243–1248 · doi:10.1016/j.humpath.2011.09.013 · PMID:22221703 · W2156032818
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This study identified HMGA gene rearrangement as a recurring somatic mutation in polypoid endometriosis.

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Abstract

The pathogenesis of endometriosis is unclear, and several genetic, endocrine, immune, and environmental agents have been evaluated with no putative causative factors identified. Here, we show somatic genetic alterations involving HMGA1 (6p21) and HMGA2 (12q15) in 3 cases of polypoid endometriosis. The lesions involved the small bowel mesentery and perirectal soft tissue in 1 case and the posterior vaginal fornix and sigmoid colon serosa in 2 other cases, respectively. All had a polypoid configuration with cystically dilated irregular glands and fibrotic stroma, containing thick-walled vessels. Conventional cytogenetic analysis of 1 case showed 46,XX,t(5;12)(q13;q15) in all metaphases. Fluorescence in situ hybridization studies confirmed the balanced rearrangement of HMGA2. HMGA1 rearrangements were present in 2 additional cases. Rearrangements were exclusively found in the stromal component but not in the glandular component. These findings suggest that HMGA rearrangements likely contribute to the pathogenesis of endometriosis. However, additional studies are needed to better define the biologic role of this genetic alteration.

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Condition tags

endometriosis

MeSH descriptors

Endometriosis Gene Rearrangement HMGA Proteins Intestinal Diseases Adult Cytogenetic Analysis Endometriosis Female HMGA Proteins Humans Intestinal Diseases Middle Aged

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