HMGA1 and HMGA2 rearrangements in mass-forming endometriosis.

摘要: Endometriosis is a common gynecologic disorder characterized by ectopic endometrium associated with pelvic pain and infertility. The pathogenesis of endometriosis unclear, several genetic, endocrine, immune, environmental agents have been studied as putative causative factors. However, consistent somatic genetic alterations not identified. Rarely, presents mass lesion an infiltrative pattern reminiscent malignancy. We describe cytogenetic molecular findings mass-forming endometriosis. index case pulmonary underwent conventional cytogenetics analysis. In addition, 16 cases endometriosis, 11 usual six endometriomas were investigated fluorescence in situ hybridization (FISH) for HMGA1 HMGA2 loci, performed on paraffin-embedded thin tissue sections custom-designed probes. patient had endometriotic lung nodule, 46,XX, t(5;6)(q13;p21) karyotype rearrangement FISH. A second decidualized forming large abdominal Of the 15 other one two rearrangement. rearrangements found stromal component exclusively. None or rearrangements. conclusion, uncommon subset that harbors up to 29% cases. present support concept clonal HMGA genes likely contributes its pathogenesis. V C 2010 Wiley-Liss, Inc.