Genetic Heterogeneity in Cellular Angiofibromas.
Genes Chromosomes Cancer
; 63(8): e23262, 2024 Aug.
Article
em En
| MEDLINE
| ID: mdl-39120141
ABSTRACT
BACKGROUND:
Cellular angiofibroma, a rare benign mesenchymal neoplasm, is classified within the 13q/RB1 family of tumors due to morphological, immunohistochemical, and genetic similarities with spindle cell lipoma. Here, genetic data reveal pathogenetic heterogeneity in cellular angiofibroma.METHODS:
Three cellular angiofibromas were studied using G-banding/Karyotyping, array comparative genomic hybridization, RNA sequencing, and direct cycling sequencing.RESULTS:
The first tumor carried a del(13)(q12) together with heterozygous loss and minimal expression of the RB1 gene. Tumors two and three displayed chromosome 8 abnormalities associated with chimeras of the pleomorphic adenoma gene 1 (PLAG1). In tumor 2, the cathepsin B (CTSB) fused to PLAG1 (CTSBPLAG1) while in tumor 3, the mir-99a-let-7c cluster host gene (MIR99AHG) fused to PLAG1 (MIR99AHGPLAG1), both leading to elevated expression of PLAG1 and insulin growth factor 2.CONCLUSION:
This study uncovers two genetic pathways contributing to the pathogenetic heterogeneity within cellular angiofibromas. The first aligns with the 13q/RB1 family of tumors and the second involves PLAG1-chimeras. These findings highlight the diverse genetic landscape of cellular angiofibromas, providing insights into potential diagnostic strategies.Palavras-chave
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Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 13
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Angiofibroma
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Heterogeneidade Genética
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article