Fusion of the Gene With in a Hemangioma Carrying a T(X;15)(q22;q26) Chromosomal Translocation

Overview

Journal Cancer Genomics Proteomics

Specialties Biochemistry
Genetics
Oncology

Date 2020 Jun 25

PMID 32576583

Citations 2

Authors

Ioannis Panagopoulos

Ludmila Gorunova

Ingvild Lobmaier

Kristin Andersen

Marius Lund-Iversen

Francesca Micci

Sverre Heim

Affiliations

Soon will be listed here.

Abstract

Background/aim: Hemangiomas are benign neoplastic proliferations of blood vessels. Cytogenetic information on hemangiomas is limited to four tumors with abnormal karyotypes. We report here a solitary chromosomal translocation and its molecular consequence in a hemangioma.

Materials And Methods: A cavernous hemangioma was extirpated from the foot of a 62 years old man and genetically studied with cytogenetic and molecular genetic methodologies.

Results: G-Banding analysis of short-term cultured tumor cells yielded the karyotype 46,Y,t(X;15)(q22;q26)[4]/46,XY[12]. RNA sequencing detected fusion of the collagen type IV alpha 5 chain gene (COL4A5 on Xq22.3) with intronic sequences of nuclear receptor subfamily 2 group F member 2 antisense RNA 1 (NR2F2-AS1 on 15q26.2) resulting in a putative COL4A5 truncated protein. The fusion was verified by RT-PCR together with Sanger sequencing and FISH analyses.

Conclusion: The involvement of COL4A5 indicates that some hemangiomas have pathogenetic similarities with other benign tumors such as leiomyomas and subungual exostosis.

Citing Articles

Neoplasia-associated Chromosome Translocations Resulting in Gene Truncation.

Panagopoulos I, Heim S Cancer Genomics Proteomics. 2022; 19(6):647-672.

PMID: 36316036 PMC: 9620447. DOI: 10.21873/cgp.20349.

Integrated WGCNA and PPI Network to Screen Hub Genes Signatures for Infantile Hemangioma.

Xu M, Ouyang T, Lv K, Ma X Front Genet. 2021; 11:614195.

PMID: 33519918 PMC: 7844399. DOI: 10.3389/fgene.2020.614195.

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