UCL Discovery
UCL home » Library Services » Electronic resources » UCL Discovery

Soft tissue angiofibroma: Clinicopathologic, immunohistochemical and molecular analysis of 14 cases

Bekers, EM; Groenen, PJTA; Verdijk, MAJ; Raaijmakers-van Geloof, WL; Roepman, P; Vink, R; Gilhuijs, NDB; ... Flucke, U; + view all (2017) Soft tissue angiofibroma: Clinicopathologic, immunohistochemical and molecular analysis of 14 cases. Genes Chromosomes & Cancer , 56 (10) pp. 750-757. 10.1002/gcc.22478. Green open access

[thumbnail of Flanagan_AMF K36 Antibody Chondroblastoma R2 21_1_16.pdf]
Preview
Text
Flanagan_AMF K36 Antibody Chondroblastoma R2 21_1_16.pdf - Accepted version

Download (444kB) | Preview
[thumbnail of Flanagan_Tables Details of used antibodies.pdf]
Preview
Text
Flanagan_Tables Details of used antibodies.pdf - Accepted version

Download (180kB) | Preview

Abstract

Soft tissue angiofibroma is rare and has characteristic histomorphological and genetic features. For diagnostic purposes, there are no specific antibodies available. Fourteen lesions (6 females, 8 males; age range 7‐67 years) of the lower extremities (12) and trunk (2) were investigated by immunohistochemistry, including for the first time NCOA2. NCOA2 was also tested in a control group of other spindle cell lesions. The known fusion‐genes (AHRR‐NCOA2 and GTF2I‐NCOA2) were examined using RT‐PCR in order to evaluate their diagnostic value. Cases in which no fusion gene was detected were additionally analysed by RNA sequencing. All cases tested showed nuclear expression of NCOA2. However, this was not specific since other spindle cell neoplasms also expressed this marker in a high percentage of cases. Other variably positive markers were EMA, SMA, desmin and CD34. STAT6 was negative in the cases tested. By RT‐PCR for the most frequently observed fusions, an AHRR‐NCOA2 fusion transcript was found in 9/14 cases. GTF2I‐NCOA2 was not detected in the remaining cases (n = 3). RNA sequencing revealed three additional positive cases; two harbored a AHRR‐NCOA2 fusion and one case a novel GAB1‐ABL1 fusion. Two cases failed molecular analysis due to poor RNA quality. In conclusion, the AHRR‐NCOA2 fusion is a frequent finding in soft tissue angiofibroma, while GTF2I‐NCOA2 seems to be a rare genetic event. For the first time, we report a GAB1‐ABL1 fusion in a soft tissue angiofibroma of a child. Nuclear expression of NCOA2 is not discriminating when compared with other spindle cell neoplasms.

Type: Article
Title: Soft tissue angiofibroma: Clinicopathologic, immunohistochemical and molecular analysis of 14 cases
Open access status: An open access version is available from UCL Discovery
DOI: 10.1002/gcc.22478
Publisher version: http://doi.org/10.1002/gcc.22478
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: H3F3A, H3F3B, chondroblastoma, bone tumour, K36M
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute > Research Department of Pathology
URI: https://discovery.ucl.ac.uk/id/eprint/10058050
Downloads since deposit
212Downloads
Download activity - last month
Download activity - last 12 months
Downloads by country - last 12 months

Archive Staff Only

View Item View Item