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

Saad A. 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

doi:10.1002/hed.25634

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

Saad A. 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 journal › Article › peer-review

24 Scopus citations

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 language	English (US)
Pages (from-to)	1928-1934
Number of pages	7
Journal	Head and Neck
Volume	41
Issue number	6
DOIs	https://doi.org/10.1002/hed.25634
State	Published - Jun 2019

Keywords

anaplastic
neoplasms
thyroid

ASJC Scopus subject areas

Otorhinolaryngology

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10.1002/hed.25634

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@article{92db320a9ad8426587207cd62fca052a,

title = "Unique mutation patterns in anaplastic thyroid cancer identified by comprehensive genomic profiling",

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",

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

note = "Publisher Copyright: {\textcopyright} 2019 Wiley Periodicals, Inc.",

year = "2019",

month = jun,

doi = "10.1002/hed.25634",

language = "English (US)",

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T1 - Unique mutation patterns in anaplastic thyroid cancer identified by comprehensive genomic profiling

AU - Khan, Saad A.

AU - Ci, Bo

AU - Xie, Yang

AU - Gerber, David E.

AU - Beg, Muhammad S.

AU - Sherman, Steven I.

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.

PY - 2019/6

Y1 - 2019/6

N2 - 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.

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

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