HMGA1 and HMGA2 rearrangements in mass‐forming endometriosis

Fabíola Medeiros, Fabiola Medeiros, Ana Rose C. de Araujo, Ana R Araujo, Michele R Erickson-Johnson, Michele R. Erickson‐Johnson, Purna C Kashyap, Purna Kashyap, Paola Dal Cin, Marisa Nucci, Marisa R. Nucci, Xiaoke Wang, Debra A Bell, André M. Oliveira, Andre M Oliveira
Genes, chromosomes & cancer · 2010 · vol. 49(7) , pp. 630–634 · doi:10.1002/gcc.20772 · PMID:20461755 · W1965373111
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Abstract

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

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Condition tags

endometriosischronic_pelvic_paininfertility

MeSH descriptors

Endometriosis HMGA2 Protein HMGA Proteins Biochemical Phenomena Cytogenetic Analysis Dosage Forms Endometriosis Female HMGA2 Protein HMGA2 Protein HMGA Proteins HMGA Proteins Humans Karyotyping Lung Neoplasms Lung Neoplasms Pelvic Pain Pelvic Pain

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