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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
    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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