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

Elise M Bekers, Patricia JTA Groenen, Marian AJ Verdijk, Winny L Raaijmakers-van Geloof, Paul Roepman, Robert Vink, Nathalie DB Gilhuijs, Joost M van Gorp, Judith VMG Bovée, David Creytens UGent, et al. (2017) GENES CHROMOSOMES & CANCER. 56(10). p.750-757
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/N COA2 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.
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (original)
publication status
published
subject
keyword
IN-SITU HYBRIDIZATION, SPINDLE-CELL LIPOMA, TRANSCRIPTIONAL COACTIVATOR, FUSION, TRANSLOCATIONS, RADIATION, NEOPLASM, TUMORS, GENES
journal title
GENES CHROMOSOMES & CANCER
Gene Chromosomes Cancer
volume
56
issue
10
pages
750 - 757
Web of Science type
Article
Web of Science id
000409326600004
ISSN
1045-2257
DOI
10.1002/gcc.22478
language
English
UGent publication?
yes
classification
A1
copyright statement
I have transferred the copyright for this publication to the publisher
id
8525207
handle
http://hdl.handle.net/1854/LU-8525207
date created
2017-06-27 07:21:36
date last changed
2017-09-25 07:52:08
@article{8525207,
  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/N COA2 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.},
  author       = {Bekers, Elise M and Groenen, Patricia JTA and Verdijk, Marian AJ and Raaijmakers-van Geloof, Winny L and Roepman, Paul and Vink, Robert and Gilhuijs, Nathalie DB and van Gorp, Joost M and Bov{\'e}e, Judith VMG and Creytens, David and Flanagan, Adrienne M and Suurmeijer, Albert JH and Mentzel, Thomas and Arbajian, Elsa and Flucke, Uta},
  issn         = {1045-2257},
  journal      = {GENES CHROMOSOMES \& CANCER},
  keyword      = {IN-SITU HYBRIDIZATION,SPINDLE-CELL LIPOMA,TRANSCRIPTIONAL COACTIVATOR,FUSION,TRANSLOCATIONS,RADIATION,NEOPLASM,TUMORS,GENES},
  language     = {eng},
  number       = {10},
  pages        = {750--757},
  title        = {Soft tissue angiofibroma : clinicopathologic, immunohistochemical and molecular analysis of 14 cases},
  url          = {http://dx.doi.org/10.1002/gcc.22478},
  volume       = {56},
  year         = {2017},
}

Chicago
Bekers, Elise M, Patricia JTA Groenen, Marian AJ Verdijk, Winny L Raaijmakers-van Geloof, Paul Roepman, Robert Vink, Nathalie DB Gilhuijs, et al. 2017. “Soft Tissue Angiofibroma : Clinicopathologic, Immunohistochemical and Molecular Analysis of 14 Cases.” Genes Chromosomes & Cancer 56 (10): 750–757.
APA
Bekers, E. M., Groenen, P. J., Verdijk, M. A., Raaijmakers-van Geloof, W. L., Roepman, P., Vink, R., Gilhuijs, N. D., et al. (2017). Soft tissue angiofibroma : clinicopathologic, immunohistochemical and molecular analysis of 14 cases. GENES CHROMOSOMES & CANCER, 56(10), 750–757.
Vancouver
1.
Bekers EM, Groenen PJ, Verdijk MA, Raaijmakers-van Geloof WL, Roepman P, Vink R, et al. Soft tissue angiofibroma : clinicopathologic, immunohistochemical and molecular analysis of 14 cases. GENES CHROMOSOMES & CANCER. 2017;56(10):750–7.
MLA
Bekers, Elise M, Patricia JTA Groenen, Marian AJ Verdijk, et al. “Soft Tissue Angiofibroma : Clinicopathologic, Immunohistochemical and Molecular Analysis of 14 Cases.” GENES CHROMOSOMES & CANCER 56.10 (2017): 750–757. Print.