HMGA gene rearrangement is a recurrent somatic alteration in polypoid endometriosis

Fabiola Medeiros, Xiaoke Wang, Ana Rose C. Araujo, Michele R. Erickson-Johnson, Joema F. Lima, Alexandra Meuter, Boris Winterhoff, Andre M. Oliveira

Research output: Contribution to journalArticlepeer-review

11 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)1243-1248
Number of pages6
JournalHuman pathology
Issue number8
StatePublished - Aug 2012
Externally publishedYes

Bibliographical note

Copyright 2012 Elsevier B.V., All rights reserved.


  • Endometriosis
  • HMGA1
  • HMGA2


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