Work

Identification of the HMGA2::CIBAR1-DT fusion transcript in two lipomas with chromosomal rearrangements involving chromosomes 8 and 12

Year: 2026

Type: article

Abstract: Background/Aim Lipomas are benign tumors of adipocytic origin. The most frequent chromosome rearrangement in lipomas involves the high-mobility group AT-hook 2 gene ( HMGA2 ), which maps to 12q14. We investigated two lipomas showing rearrangements of chromosomal bands 8q22 and 12q14 in their karyotypes, with the aim of identifying the gene products affected by these aberrations. Materials and Methods The two lipomas were selected because their karyotype showed an 8;12-rearrangement with the very same breakpoint position. The cases were investigated using RNA sequencing, reverse transcription polymerase chain reaction (RT-PCR), Sanger sequencing techniques, Fluorescence in situ hybridization (FISH), and array comparative genomic hybridization (aCGH). Results RNA sequencing and RT-PCR of the two lipomas showed the presence of the HMGA2::CIBAR1-DT chimera. Conclusions The HMGA2::CIBAR1-DT fusion, identified here for the first time, is a recurrent transcript in lipomas.

Source: Frontiers in Oncology

DOI: 10.3389/fonc.2025.1717031

Authors: Marta Brunetti, Kristin Andersen, Ingvild Lobmaier, Francesca Micci

Institution: Oslo University Hospital

Language: English

Topic: Soft tissue tumors and treatment

Subfield: Pathology and Forensic Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,801