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  • Title: Unique mutation patterns in anaplastic thyroid cancer identified by comprehensive genomic profiling.
    Author: Khan SA, Ci B, Xie Y, Gerber DE, Beg MS, Sherman SI, Cabanillas ME, Busaidy NL, Burtness BA, Heilmann AM, Bailey M, Ross JS, Sher DJ, Ali SM.
    Journal: Head Neck; 2019 Jun; 41(6):1928-1934. PubMed ID: 30758123.
    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.
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