First Glance of Molecular Profile of Atypical Cellular Angiofibroma/Cellular Angiofibroma with Sarcomatous Transformation by Next Generation Sequencing

doi:10.3390/diagnostics10010035

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Title:	First Glance of Molecular Profile of Atypical Cellular Angiofibroma/Cellular Angiofibroma with Sarcomatous Transformation by Next Generation Sequencing
Authors:	Chien, Yi-Che Chang Mokanszki, Attila Huang, Hsuan-Ying Silva Jr, Raimundo Geronimo Chen, Chien-Chin Beke, Livia Monus, Aniko Mehes, Gabor
Contributors:	Univ Debrecen, Clin Ctr, Dept Pathol Kaohsiung Chang Gung Mem Hosp, Dept Pathol Chang Gung Univ, Coll Med Univ Fed Piaui, Dept Pathol Ditmanson Med Fdn, Dept Pathol, Chia Yi Christian Hosp Chia Nan Univ Pharm & Sci, Dept Cosmet Sci
Keywords:	atypical angiofibroma angiofibroma with sarcomatous transformation p16 p53 next generation sequencing
Date:	2020
Issue Date:	2022-11-18 11:26:14 (UTC+8)
Publisher:	Mdpi
Abstract:	Cellular angiofibroma is a rare benign mesenchymal neoplasm most commonly occurring in the vulvovaginal region in women and the inguinoscrotal region in men with specific genetic deletion involved in the RB1 gene in chromosome 13q14 region. Atypical cellular angiofibroma and cellular angiofibroma with sarcomatous transformation are recently described variants showing worrisome morphological features and strong, diffuse p16 expression. Nevertheless, the molecular profile of these tumor entities is largely unknown. We carried out a next generation sequencing (NGS) study from six cases of atypical cellular angiofibroma and cellular angiofibroma with sarcomatous transformation. We were able to identify oncogenic TP53 gene mutations (33%) which may contribute to pathogenesis also resulting in p16 overexpression. In addition, RB1 gene alterations generally present were identified. Since it is a recently described and rare entity, the whole molecular signaling pathway is still largely obscured and the analysis of larger cohorts is needed to elucidate this issue.
Relation:	Diagnostics, v.10, n.1, pp.8
Appears in Collections:	[Dept. of Cosmetic Science and institute of cosmetic science] Periodical Articles

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