Fusion of the and Genes in Uterine Leiomyoma With T(9;12)(p22;q14)

Overview

Journal In Vivo

Specialty Oncology

Date 2022 Oct 29

PMID 36309352

Authors

Ioannis Panagopoulos

Kristin Andersen

Ludmila Gorunova

Ben Davidson

Francesca Micci

Sverre Heim

Affiliations

Soon will be listed here.

Abstract

Background/aim: The translocation t(9;12) (p22;q14~15) has been reported in lipomas, pleomorphic adenomas, a myolipoma, two chondroid hamartomas, and two uterine leiomyomas. In lipomas and pleomorphic adenomas, the translocation fuses HMGA2 (12q14) with the NFIB gene from 9p22; in myolipoma, it fuses HMGA2 with C9orf92 from 9p22; and in chondroid hamartomas, fluorescence in situ hybridization (FISH) investigations showed the chromosomal aberration to cause intragenic rearrangement of HMGA2. The translocation's molecular consequence in a uterine leiomyoma is described here.

Materials And Methods: A typical leiomyoma was investigated using banding cytogenetics, FISH, RNA sequencing, reverse transcription polymerase chain reaction and Sanger sequencing.

Results: A single translocation, t(9;12)(p22;q14) leading to an HMGA2::BNC2 chimera, was found in tumor cells. A sequence of the untranslated part of exon 5 of HMGA2 (nucleotide 1035 in the NCBI reference sequence NM_003483.4) had fused with a sequence from the untranslated part of exon 7 of BNC2 from 9p22 (nucleotide 9284 in reference sequence NM_017637.6).

Conclusion: At the molecular level, the t(9;12)(p22;q14~15) found in several benign tumors appears to be heterogeneous fusing HMGA2 with either BNC2, C9orf92 or NFIB which all three map close to one another within a 3 Mbp region in 9p22. Because the fusion point in HMGA2 in the present tumor lays downstream from the first Let-7 miRNA consensus binding site, we conclude that deletion of the first Let-7 miRNA binding site is not important for the transcriptional upregulation of HMGA2 caused by the genomic rearrangement.

Citing Articles

Fusion of the High-mobility Group AT-Hook 2 () and the Gelsolin () Genes in Lipomas With t(9;12)(q33;q14) Chromosomal Translocation.

Panagopoulos I, Andersen K, Brunetti M, Gorunova L, Lund-Iversen M, Micci F In Vivo. 2023; 37(2):524-530.

PMID: 36881074 PMC: 10026638. DOI: 10.21873/invivo.13110.

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