HMGA1 and HMGA2 rearrangements in mass-forming endometriosis

Fabiola Medeiros, Ana R. Araujo, Michele R. Erickson-Johnson, Purna C Kashyap, Paola Dal Cin, Marisa Nucci, Xiaoke Wang, Debra A. Bell, Andre M. Oliveira

Research output: Contribution to journalArticle

15 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)630-634
Number of pages5
JournalGenes Chromosomes and Cancer
Volume49
Issue number7
DOIs
StatePublished - Jul 2010

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Endometriosis
Fluorescence In Situ Hybridization
Cytogenetics
HMGA Proteins
Lung
Pelvic Pain
Gene Rearrangement
Cytogenetic Analysis
Endometrium
Karyotype
Paraffin
Infertility

ASJC Scopus subject areas

  • Cancer Research
  • Genetics

Cite this

Medeiros, F., Araujo, A. R., Erickson-Johnson, M. R., Kashyap, P. C., Dal Cin, P., Nucci, M., ... Oliveira, A. M. (2010). HMGA1 and HMGA2 rearrangements in mass-forming endometriosis. Genes Chromosomes and Cancer, 49(7), 630-634. https://doi.org/10.1002/gcc.20772

HMGA1 and HMGA2 rearrangements in mass-forming endometriosis. / Medeiros, Fabiola; Araujo, Ana R.; Erickson-Johnson, Michele R.; Kashyap, Purna C; Dal Cin, Paola; Nucci, Marisa; Wang, Xiaoke; Bell, Debra A.; Oliveira, Andre M.

In: Genes Chromosomes and Cancer, Vol. 49, No. 7, 07.2010, p. 630-634.

Research output: Contribution to journalArticle

Medeiros, F, Araujo, AR, Erickson-Johnson, MR, Kashyap, PC, Dal Cin, P, Nucci, M, Wang, X, Bell, DA & Oliveira, AM 2010, 'HMGA1 and HMGA2 rearrangements in mass-forming endometriosis', Genes Chromosomes and Cancer, vol. 49, no. 7, pp. 630-634. https://doi.org/10.1002/gcc.20772
Medeiros F, Araujo AR, Erickson-Johnson MR, Kashyap PC, Dal Cin P, Nucci M et al. HMGA1 and HMGA2 rearrangements in mass-forming endometriosis. Genes Chromosomes and Cancer. 2010 Jul;49(7):630-634. https://doi.org/10.1002/gcc.20772
Medeiros, Fabiola ; Araujo, Ana R. ; Erickson-Johnson, Michele R. ; Kashyap, Purna C ; Dal Cin, Paola ; Nucci, Marisa ; Wang, Xiaoke ; Bell, Debra A. ; Oliveira, Andre M. / HMGA1 and HMGA2 rearrangements in mass-forming endometriosis. In: Genes Chromosomes and Cancer. 2010 ; Vol. 49, No. 7. pp. 630-634.
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AU - Dal Cin, Paola

AU - Nucci, Marisa

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