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

Saad A Khan1, Bo Ci2, Yang Xie2

  • 1Division of Hematology and Oncology, University of Texas Southwestern Medical Center, Dallas, Texas.

Head & Neck
|February 14, 2019
PubMed
Abstract

Insights

Anaplastic thyroid cancer (ATC) exhibits numerous genomic alterations (GAs) with therapeutic potential. Identifying these GAs, such as in BRAF, is crucial for developing targeted therapies for this aggressive cancer.

Area of Science:

  • Oncology
  • Genomics
  • Molecular Biology

Background:

  • Anaplastic thyroid cancer (ATC) is an aggressive malignancy.
  • Specific genomic alterations (GAs) in genes like TSC2, ALK, and BRAF may indicate susceptibility to targeted treatments.

Purpose of the Study:

  • To comprehensively profile the genomic landscape of anaplastic thyroid cancer.
  • To identify actionable genomic alterations for potential targeted therapy.

Main Methods:

  • Conducted comprehensive genomic profiling on 90 ATC specimens.
  • Analyzed base substitutions, insertions/deletions, amplifications, copy number alterations, and genomic rearrangements across hundreds of cancer-related genes.

Main Results:

  • Identified a mean of 4.2 genomic alterations per case, with TP53 (66%), BRAF (34%), TERT (32%), CDKN2A (32%), and NRAS (26%) being most frequent.
  • Observed mutually exclusive alterations between BRAF V600E and NRAS/HRAS/KRAS.
  • Found age-related differences in GA frequency, with certain alterations more common in older or younger patient groups.

Conclusions:

  • Anaplastic thyroid cancer is characterized by a high number of genomic alterations.
  • These GAs hold significant therapeutic implications and suggest diverse molecular pathways driving ATC development.
Keywords:
anaplasticneoplasmsthyroid

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