Intratumor genetic heterogeneity in squamous cell carcinoma of the oral cavity

Dan P. Zandberg, Luke J. Tallon, Sushma Nagaraj, Lisa K. Sadzewicz, Yuji Zhang, Maxwell B. Strome, Xuechu E. Zhao, Kranthi Vavikolanu, Xiaoyu Zhang, John C. Papadimitriou, Fleesie A. Hubbard, Søren M. Bentzen, Scott E. Strome, Claire M. Fraser

Research output: Contribution to journalArticlepeer-review

9 Scopus citations

Abstract

Background: We sought to evaluate intratumor heterogeneity in squamous cell carcinoma of the oral cavity (OCC) and specifically determine the effect of physical separation and histologic differentiation within the same tumor. Methods: We performed whole exome sequencing on five biopsy sites—two from well-differentiated, two from poorly differentiated regions, and one from normal parenchyma—from five primary OCC specimens. Results: We found high levels of intratumor heterogeneity and, in four primary tumors, identified only 0 to 2 identical mutations in all subsites. We found that the heterogeneity inversely correlated with physical separation and that pairs of well-differentiated samples were more similar to each other than analogous poorly differentiated specimens. Only TP53 mutations, but not other purported “driver mutations” in head and neck squamous cell carcinoma, were found in multiple biopsy sites. Conclusion: These data highlight the challenges to characterization of the mutational landscape of OCC with single site biopsy and have implications for personalized medicine.

Original languageEnglish (US)
Pages (from-to)2514-2524
Number of pages11
JournalHead and Neck
Volume41
Issue number8
DOIs
StatePublished - Aug 2019
Externally publishedYes

Keywords

  • SCCHN
  • genetic
  • heterogeneity
  • oral cavity
  • squamous cell carcinoma

ASJC Scopus subject areas

  • Otorhinolaryngology

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