A Polycythemia Vera JAK2 Mutation Masquerading as a Duodenal Cancer Mutation

J Natl Compr Canc Netw. 2016 Dec;14(12):1495-1498. doi: 10.6004/jnccn.2016.0161.

Abstract

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, N.I.H., Extramural

MeSH terms

  • Abdominal Pain / etiology
  • Adenocarcinoma / diagnosis*
  • Adenocarcinoma / genetics
  • Adenocarcinoma / pathology
  • Adenocarcinoma / therapy
  • Aged
  • Antineoplastic Combined Chemotherapy Protocols / therapeutic use
  • Blood Cells
  • Camptothecin / analogs & derivatives
  • Camptothecin / therapeutic use
  • Chemotherapy, Adjuvant
  • DNA Contamination*
  • Diagnosis, Differential
  • Duodenal Neoplasms / diagnosis*
  • Duodenal Neoplasms / genetics
  • Duodenal Neoplasms / pathology
  • Duodenal Neoplasms / therapy
  • Duodenum / diagnostic imaging
  • Female
  • Fluorouracil / therapeutic use
  • Heterozygote
  • High-Throughput Nucleotide Sequencing
  • Hospice Care
  • Humans
  • Janus Kinase 2 / genetics*
  • Leucovorin / therapeutic use
  • Mouth Mucosa / cytology
  • Mutation
  • Nails
  • Organoplatinum Compounds / therapeutic use
  • Pancreaticoduodenectomy / methods
  • Phlebotomy
  • Polycythemia Vera / complications
  • Polycythemia Vera / diagnosis*
  • Polycythemia Vera / genetics
  • Polycythemia Vera / therapy
  • Sequence Analysis, DNA
  • Tomography, X-Ray Computed

Substances

  • Organoplatinum Compounds
  • JAK2 protein, human
  • Janus Kinase 2
  • Leucovorin
  • Fluorouracil
  • Camptothecin

Supplementary concepts

  • Folfox protocol
  • IFL protocol