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.
Highlights
Cellular angiofibroma (CA) is a benign mesenchymal neoplasm most commonly occurring in the vulvovaginal region in women and in the inguinoscrotal region in men [1]
The microscopical analysis of all six Atypical cellular angiofibroma (ACA)/cellular angiofibroma with sarcomatous transformation (CAS) cases showed typical cellular angiofibroma areas composed of uniform, bland spindle-shaped cells haphazardly arranged in a collagenous stroma with numerous thick-walled and hyalinized blood vessels
ACA/CAS was described as a separate new entity with a spectrum of distinctive morphological features covering cytological atypia and sarcomatous growth patterns
Summary
Cellular angiofibroma (CA) is a benign mesenchymal neoplasm most commonly occurring in the vulvovaginal region in women and in the inguinoscrotal region in men [1]. The tumor is characterized by a spindle cell proliferation intermixed with hyalinized small-to-medium-sized blood vessels It was first described in 1997 [2], and more recently, a specific genetic deletion involving the RB1 gene at chromosome region 13q14 was documented [3,4], indicating a close relationship with spindle cell lipoma, mammary-type myofibroblastoma, and to a certain degree, atypical spindle cell lipomatous tumor [5]. The biological significance of ACA/CAS remains uncertain; to the best of our knowledge, apart from the deletion of RB1 gene, no detailed molecular data are published in the literature. This triggered our interest to learn whether there may be differences regarding the genetic profiles between CA and ACA/CAS. Study from six cases of ACA/CAS and two cases of CA (served as control group) to provide a deeper molecular insight into both groups
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