Unique mutation patterns in anaplastic thyroid cancer identified by comprehensive genomic profiling

Saad Khan, Bo Ci, Yang Xie, David E Gerber, Muhammad S Beg, Steven I. Sherman, Maria E. Cabanillas, Naifa L. Busaidy, Barbara A. Burtness, Andreas M. Heilmann, Mark Bailey, Jeffrey S. Ross, David J Sher, Siraj M. Ali

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Introduction: Anaplastic thyroid cancer (ATC) is a highly aggressive thyroid cancer. Those ATC with genomic alterations (GAs) in TSC2, ALK, and BRAF may respond to targeted therapies. Methods: Comprehensive genomic profiling on 90 ATC specimens identified base substitutions, short insertions and deletions, amplifications, copy number alterations, and genomic rearrangements in up to 315 cancer-related genes and 28 genes commonly rearranged in cancer. Results: Median patient age was 65 (range, 33-86) years, 50 patients were male. There was a mean of 4.2 GA per case, range 1-11. The most common GA were TP53 (66%), BRAF (34%), TERT (32%), CDKN2A (32%), and NRAS (26%). BRAF V600E and NRAS/HRAS/KRAS alteration were mutually exclusive. BRAF, CDKN2A, PIK3CA, and JAK2 were more frequent in patients >70 years of age; while myc, PTEN, and NRAS were more common in those ≤50 years. Conclusion: ATC shows many GA with potential therapeutic significance and suggesting different molecular pathways can lead to ATC.

Original languageEnglish (US)
JournalHead and Neck
DOIs
StatePublished - Jan 1 2019

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Mutation
Neoplasm Genes
Thyroid Neoplasms
Anaplastic Thyroid Carcinoma
Therapeutics
Genes
Neoplasms

Keywords

  • anaplastic
  • neoplasms
  • thyroid

ASJC Scopus subject areas

  • Otorhinolaryngology

Cite this

Unique mutation patterns in anaplastic thyroid cancer identified by comprehensive genomic profiling. / Khan, Saad; Ci, Bo; Xie, Yang; Gerber, David E; Beg, Muhammad S; Sherman, Steven I.; Cabanillas, Maria E.; Busaidy, Naifa L.; Burtness, Barbara A.; Heilmann, Andreas M.; Bailey, Mark; Ross, Jeffrey S.; Sher, David J; Ali, Siraj M.

In: Head and Neck, 01.01.2019.

Research output: Contribution to journalArticle

Khan, Saad ; Ci, Bo ; Xie, Yang ; Gerber, David E ; Beg, Muhammad S ; Sherman, Steven I. ; Cabanillas, Maria E. ; Busaidy, Naifa L. ; Burtness, Barbara A. ; Heilmann, Andreas M. ; Bailey, Mark ; Ross, Jeffrey S. ; Sher, David J ; Ali, Siraj M. / Unique mutation patterns in anaplastic thyroid cancer identified by comprehensive genomic profiling. In: Head and Neck. 2019.
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AU - Ci, Bo

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AU - Cabanillas, Maria E.

AU - Busaidy, Naifa L.

AU - Burtness, Barbara A.

AU - Heilmann, Andreas M.

AU - Bailey, Mark

AU - Ross, Jeffrey S.

AU - Sher, David J

AU - Ali, Siraj M.

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