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Research Letter
January 3, 2019

Association of JAK2-V617F Mutations Detected by Solid Tumor Sequencing With Coexistent Myeloproliferative Neoplasms

Author Affiliations
  • 1Rutgers Cancer Institute of New Jersey, Rutgers University, New Brunswick, New Jersey
  • 2Center for Systems and Computational Biology, Rutgers Cancer Institute of New Jersey, Rutgers University, New Brunswick, New Jersey
  • 3Department of Pathology and Laboratory Medicine, Rutgers Robert Wood Johnson Medical School, Rutgers University, New Brunswick, New Jersey
  • 4Department of Medicine, Rutgers Robert Wood Johnson Medical School, Rutgers University, New Brunswick, New Jersey
JAMA Oncol. Published online January 3, 2019. doi:10.1001/jamaoncol.2018.6286

Clinical sequencing assays aim to identify somatic mutations in cancer cells for accurate diagnosis and treatment. However, most clinical-grade implementations lack patient-matched germline DNA, and supplemental analyses are needed to infer the mutational status of variants. In addition, genomic heterogeneity confounds the ability to distinguish subclonal tumor alterations from those possibly originating from the microenvironment’s nontumor component. Recent studies have shown that certain mutations identified in sequencing assays did not reflect alterations in the tumor but instead revealed alterations in infiltrating hematopoietic cells possibly from undiagnosed clonal hematopoiesis of indeterminate potential (CHIP),1,2 an age-related expansion of hematopoietic stem cells harboring somatic mutations predominantly in DNMT3A (GenBank 1788), TET2 (GenBank 54790), and ASXL1 (GenBank 171023). Mutations in other genes associated with hematologic diseases are detected less frequently in CHIP, and when these mutations are encountered, reports have attributed them either to the tumor or to CHIP.1-3

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