AI Article Synopsis
- Researchers identified a benign myoid tumor in a 45-year-old woman that shares the same genetic abnormality (t(5;12)(p13;q14)) as a previously studied myoid hamartoma, involving the HMGA2 gene.
- They employed various techniques like cytogenetics and RNA sequencing to confirm the presence of this genetic fusion in the tumor.
- The study concludes that the translocation and fusion of HMGA2 likely occur frequently in benign breast muscle tumors.
Article Abstract
Background/aim: Recently, we reported a myoid hamartoma carrying a t(5;12)(p13;q14) karyotypic aberration leading to fusion of the high-mobility group AT-hook 2 (HMGA2) gene with a sequence from chromosome sub-band 5p13.2. We describe here another benign myoid tumor of the breast with identical genetic aberrations.
Materials And Methods: A mammary leiomyomatous tumor found in a 45-year-old woman was studied using cytogenetics, fluorescence in situ hybridization, RNA sequencing, reverse transcription-polymerase chain reaction and Sanger sequencing.
Results: The karyotype of the tumor cells was 46,XX,t(5;12) (p13;q14)[14]. Fluorescence in situ hybridization showed rearrangement of HMGA2, RNA sequencing detected fusion of HMGA2 with a sequence from 5p13.2, whereupon reverse transcription-polymerase chain reaction together with Sanger sequencing verified the HMGA2-fusion transcript. The results were identical to those obtained by us previously in a myoid hamartoma of the breast.
Conclusion: The translocation t(5;12)(p13;q14) and fusion of HMGA2 with sequences from sub-band 5p13.2 appear to be recurrent events in benign mammary myoid neoplasms.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9247879 | PMC |
| http://dx.doi.org/10.21873/cgp.20331 | DOI Listing |
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