HMGA gene rearrangement is a recurrent somatic alteration in polypoid endometriosis
| Autor: | Fabiola Medeiros, Andre M. Oliveira, Boris Winterhoff, Joema Felipe Lima, Alexandra Meuter, Michele R. Erickson-Johnson, Xiaoke Wang, Ana Rose C. de Araujo |
|---|---|
| Rok vydání: | 2012 |
| Předmět: |
Adult
Pathology medicine.medical_specialty Somatic cell Endometriosis Pathology and Forensic Medicine Pathogenesis HMGA2 Stroma medicine Humans Gene Rearrangement HMGA Proteins biology medicine.diagnostic_test HMGA Gene rearrangement Middle Aged medicine.disease Intestinal Diseases Cytogenetic Analysis biology.protein Cancer research Female Fluorescence in situ hybridization |
| Zdroj: | Human Pathology. 43:1243-1248 |
| ISSN: | 0046-8177 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect