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Telomere alterations in neurofibromatosis type 1-associated solid tumors.

  • Author(s): Rodriguez, Fausto J
  • Graham, Mindy K
  • Brosnan-Cashman, Jacqueline A
  • Barber, John R
  • Davis, Christine
  • Vizcaino, M Adelita
  • Palsgrove, Doreen N
  • Giannini, Caterina
  • Pekmezci, Melike
  • Dahiya, Sonika
  • Gokden, Murat
  • Noë, Michael
  • Wood, Laura D
  • Pratilas, Christine A
  • Morris, Carol D
  • Belzberg, Allan
  • Blakeley, Jaishri
  • Heaphy, Christopher M
  • et al.

Published Web Location

https://www-ncbi-nlm-nih-gov.ucsf.idm.oclc.org/pmc/articles/PMC6712691/
No data is associated with this publication.
Abstract

The presence of Alternative lengthening of telomeres (ALT) and/or ATRX loss, as well as the role of other telomere abnormalities, have not been formally studied across the spectrum of NF1-associated solid tumors. Utilizing a telomere-specific FISH assay, we classified tumors as either ALT-positive or having long (without ALT), short, or normal telomere lengths. A total of 426 tumors from 256 NF1 patients were evaluated, as well as 99 MPNST tumor samples that were sporadic or of unknown NF1 status. In the NF1-glioma dataset, ALT was present in the majority of high-grade gliomas: 14 (of 23; 60%) in contrast to only 9 (of 47; 19%) low-grade gliomas (p = 0.0009). In the subset of ALT-negative glioma cases, telomere lengths were estimated and we observed 17 (57%) cases with normal, 12 (40%) cases with abnormally long, and only 1 (3%) case with short telomeres. In the NF1-associated malignant nerve sheath tumor (NF1-MPNST) set (n = 75), ALT was present in 9 (12%). In the subset of ALT-negative NF1-MPNST cases, telomeres were short in 9 (38%), normal in 14 (58%) and long in 1 (3%). In the glioma set, overall survival was significantly decreased for patients with ALT-positive tumors (p < 0.0001). In the NF1-MPNST group, overall survival was superior for patients with tumors with short telomeres (p = 0.003). ALT occurs in a subset of NF1-associated solid tumors and is usually restricted to malignant subsets. In contrast, alterations in telomere lengths are more prevalent than ALT.

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