Chromosomal Translocation t(5;12)(p13;q14) Leading to Fusion of High-mobility Group AT-hook 2 Gene With Intergenic Sequences From Chromosome Sub-Band 5p13.2 in Benign Myoid Neoplasms of the Breast: A Second Case

Cancer Genomics Proteomics. 2022 Jul-Aug;19(4):445-455. doi: 10.21873/cgp.20331.


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.

Keywords: HMGA2 rearrangement; Myoid hamartoma of the breast; chromosomal translocation t(5;12)(p13;q14); chromosome sub-band 5p13.2; intergenic sequence; leiomyoma; myoid neoplasm.

Publication types

  • Case Reports

MeSH terms

  • Brain Neoplasms* / genetics
  • Breast Neoplasms* / genetics
  • Chromosomes
  • DNA, Intergenic
  • Female
  • Hamartoma* / genetics
  • Humans
  • In Situ Hybridization, Fluorescence
  • Middle Aged
  • Translocation, Genetic


  • DNA, Intergenic