TERT Promoter Mutations in Solitary Fibrous Tumor

Demicco, E. G., Wani, K., Ingram, D., Wagner, M., Maki, R. G., Rizzo, A., Meeker, A., Lazar, A. J., Wang, W. L. (November 2018) TERT Promoter Mutations in Solitary Fibrous Tumor. Histopathology, 73 (5). pp. 843-851. ISSN 0309-0167

URL: https://www.ncbi.nlm.nih.gov/pubmed/29985536
DOI: 10.1111/his.13703


AIMS: TERT promoter mutations have been reported in 22% of solitary fibrous tumors (SFT) and have been associated with poor outcomes. We performed testing for TERT hotspot mutations in a large series of solitary fibrous tumors in order to confirm this finding and explore clinicopathologic correlates of mutation status. METHODS AND RESULTS: PCR for TERT hotspot mutations C250T and C228T was performed on DNA extracted from 216 SFT, and mutation status correlated with clinicopathological factors including predicted risk for metastasis using a previously published model. Testing was successful in 189 tumors from 172 patients, and mutations were present in 29%. Presence of TERT promoter mutation was associated with larger primary tumor size, necrosis and older patient age. TERT promoter mutations were most common in high risk tumors (9/20, 45%), and were present in 11/26 (42%) moderate risk tumors, and 14/67 (21%) low risk tumors (p=0.004). Overall, TERT mutations were associated with shorter time to first metastasis (p=0.04), but had no impact on overall survival. TERT promoter mutation status was found not to provide additional prognostic information in low and high risk SFT, but did identify a group of patients with intermediate risk SFT who had an increased risk of metastasis. CONCLUSIONS: TERT promoter mutations were more frequent in SFT with higher risk of metastasis, but TERT promoter mutation status was not a reliable predictor of clinical outcome by itself. However, mutations in the TERT promoter may be useful in further stratifying patients with intermediate risk tumors. This article is protected by copyright. All rights reserved.

Item Type: Paper
Subjects: diseases & disorders > cancer
diseases & disorders > cancer > metastasis
diseases & disorders > cancer > prognosis
CSHL Authors:
Communities: CSHL labs > Maki lab
CSHL Cancer Center Program > Cancer Genetics and Genomics Program
Depositing User: Matthew Dunn
Date: November 2018
Date Deposited: 27 Nov 2018 15:24
Last Modified: 05 Nov 2020 21:07
Related URLs:
URI: https://repository.cshl.edu/id/eprint/37347

Actions (login required)

Administrator's edit/view item Administrator's edit/view item
CSHL HomeAbout CSHLResearchEducationNews & FeaturesCampus & Public EventsCareersGiving