Fusion of High Mobility Group AT-hook 2 Gene () With the Chromosome 12 Open Reading Frame 42 Gene () in an Aggressive Angiomyxoma With Del(12)(q14q23) As the Sole Cytogenetic Anomaly

Overview

Journal Cancer Genomics Proteomics

Specialties Biochemistry
Genetics
Oncology

Date 2022 Aug 19

PMID 35985684

Authors

Ioannis Panagopoulos

Ludmila Gorunova

Kristin Andersen

Ingvild Lobmaier

Francesca Micci

Sverre Heim

Affiliations

Soon will be listed here.

Abstract

Background/aim: Aggressive angiomyxomas are mostly found in the pelvic and perineal region and are prone to recur after surgery. Cytogenetic information is available on only nine such tumors. Herein, we report the cytogenetic anomaly and its molecular consequence in another aggressive angiomyxoma.

Materials And Methods: An aggressive angiomyxoma found in a 33-year-old woman was examined using cytogenetic, RNA sequencing, reverse transcription polymerase chain reaction (RT-PCR), and Sanger sequencing techniques.

Results: The karyotype of short-term cultured tumor cells was 46,XX,del(12) (q14q23)[9]/46,XX[2]. RNA sequencing detected fusion of the high mobility group AT-hook 2 gene (HMGA2) with the chromosome 12 open reading frame 42 gene (C12orf42). RT-PCR together with Sanger sequencing verified the presence of an HMGA2::C12orf42 fusion transcript.

Conclusion: The present case carrying del(12)(q14q23) and an HMGA2::C12orf42 chimeric transcript strengthens the notion that involvement of HMGA2 and its misexpression are pathogenetically important in the development of aggressive angiomyxomas.

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