A Polycythemia Vera JAK2 Mutation Masquerading as a Duodenal Cancer Mutation

View More View Less
  • a From The Sidney Kimmel Comprehensive Cancer Center, The Johns Hopkins University School of Medicine, and The Whiting School of Engineering, Department of Chemical and Biomolecular Engineering, The Johns Hopkins University, Baltimore, Maryland.
Restricted access

Next-generation sequencing (NGS) is increasingly being used in cancer care to identify both somatic tumor driver mutations that can be targeted for therapy, and heritable mutations in the germline associated with increased cancer risk. This report presents a case of a JAK2 V617F mutation falsely identified as a duodenal cancer mutation via NGS. The patient was found to have a history of polycythemia vera, a disorder with a high incidence of JAK2 somatic mutations. Buccal cell DNA showed heterozygosity for the mutation, suggesting that it was potentially germline. However, subsequent resequencing of tumor, adjacent normal tissue, and fingernail DNA confirmed the mutation was somatic, and its presence in tumor and buccal cells resulted from contaminating blood cells. This report highlights important nuances of NGS that can lead to misinterpretation of results with potential clinical implications.

Author Contributions: Conception and design: Lee, Axilbund, Dalton, Gocke, Lauring, and Park. Development of methodology: Lee, Dalton, Chu, Cravero, Button, Kyker-Snowman, Waters, and Gocke. Acquisition of data: Lee, Axilbund, Dalton, Laheru, Watkins, Gocke, Lauring, and Park. Analysis and interpretation of data: all authors. Writing, review, and/or revision of the manuscript: all authors.

Correspondence: Josh Lauring, MD, PhD, and Ben Ho Park, MD, PhD, Department of Oncology, The Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins, 1650 Orleans Street, Baltimore, MD 21287. E-mail: jlauring@jhmi.edu; bpark2@jhmi.edu

Supplementary Materials

    • Supplemental Material (PDF 87.4 KB)