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001-es BibID:	BIBFORM083074
035-os BibID:	(WoS)000513129500035 (Scopus)85078408254
Első szerző:	Chang Chien, Yi-Che (pathológus)
Cím:	First Glance of Molecular Profile of Atypical Cellular Angiofibroma/Cellular Angiofibroma with Sarcomatous Transformation by Next Generation Sequencing / Yi-Che Chang Chien, Attila Mokánszki, Hsuan-Ying Huang, Raimundo Geronimo Silva Jr., Chien-Chin Chen, Lívia Beke, Anikó Mónus, Gábor Méhes
Dátum:	2020
ISSN:	2075-4418
Megjegyzések:	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, di use 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.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban folyóiratcikk
Megjelenés:	Diagnostics. - 1 : 10 (2020), p. 1-8. -
További szerzők:	Mokánszki Attila (1983-) (molekuláris biológus Ph.D hallgató) Huang, Hsuan-Ying Silva Jr., Raimundo Geronimo Chen, Chien-Chin Beke Lívia Mónus Anikó Méhes Gábor (1966-) (patológus)
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