Singh, Nirupama ORCID: 0000-0003-1804-4207, Collingwood, Robin, Eich, Marie-Lisa, Robinson, Alyncia, Varambally, Sooryanarayana, Al Diffalha, Sameer and Harada, Shuko (2021). NAB2-STAT6 Gene Fusions to Evaluate Primary/Metastasis of Hemangiopericytoma/Solitary Fibrous Tumors. Am. J. Clin. Pathol., 156 (5). S. 906 - 913. CARY: OXFORD UNIV PRESS INC. ISSN 1943-7722

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Abstract

Objectives: Hemangiopericytomas (HPCs) and solitary fibrous tumors (SFTs) were considered two distinct entities, but a common gene fusion, NAB2-STAT6, has been identified in both. Although rare, HPCs and SFTs do metastasize, some many years later after resection. Given the extended disease-free interval, it can be difficult to determine with certainty if an HPC or SFT at a new anatomic location represents a second primary or metastatic disease. Methods: RNA was extracted from formalin-fixed, paraffin-embedded tissue of two patients with multiple SFT/HPC samples. The fusion gene was amplified by reverse transcription polymerase chain reaction (RT-PCR) and a custom-designed Archer FusionPlex panel (94 target genes) and the Illumina NextSeq 550. Results: We identified two patients with multiple resections for HPC/SFT during 26 years at our institution. The first patient had a history of HPC and almost 10 years later she was diagnosed with malignant SFT. The HPC and the SFT shared the same fusion breakpoint. The second patient had multiple lesions in the brain and bone/soft tissue over a 27-year span following a diagnosis of meningeal SFT. Three lesions from this patient shared the same fusion breakpoint. Conclusions: Our study demonstrated the same fusion breakpoints in primary and metastatic SFTs/HPCs at different time points using both RT-PCR and the Archer fusion panel.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Singh, NirupamaUNSPECIFIEDorcid.org/0000-0003-1804-4207UNSPECIFIED
Collingwood, RobinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Eich, Marie-LisaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Robinson, AlynciaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Varambally, SooryanarayanaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Al Diffalha, SameerUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Harada, ShukoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-575191
DOI: 10.1093/ajcp/aqab045
Journal or Publication Title: Am. J. Clin. Pathol.
Volume: 156
Number: 5
Page Range: S. 906 - 913
Date: 2021
Publisher: OXFORD UNIV PRESS INC
Place of Publication: CARY
ISSN: 1943-7722
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
SOLITARY; CLASSIFICATIONMultiple languages
PathologyMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/57519

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