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Head Neck. 2019 Jun;41(6):1928-1934. doi: 10.1002/hed.25634. Epub 2019 Feb 13.

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

Author information

1
Division of Hematology and Oncology, University of Texas Southwestern Medical Center, Dallas, Texas.
2
Department of Clinical Sciences, University of Texas Southwestern Medical Center, Dallas, Texas.
3
Department of Endocrine Neoplasia and Hormonal Disorders, University of Texas MD Anderson Cancer Center, Houston, Texas.
4
Department of Internal Medicine, Yale School of Medicine; Developmental Therapeutics Program, Yale Cancer Center, New Haven, Connecticut.
5
Foundation Medicine, Inc., Cambridge, Massachusetts.
6
Department of Radiation Oncology, University of Texas Southwestern Medical Center, Dallas, Texas.

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.

KEYWORDS:

anaplastic; neoplasms; thyroid

PMID:
30758123
PMCID:
PMC6542589
[Available on 2020-06-01]
DOI:
10.1002/hed.25634

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