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Recurrent PTPRT/JAK2 mutations in lung adenocarcinoma among African Americans

Author

Listed:
  • Khadijah A. Mitchell

    (National Cancer Institute)

  • Noah Nichols

    (National Cancer Institute)

  • Wei Tang

    (National Cancer Institute)

  • Jennifer Walling

    (National Cancer Institute)

  • Holly Stevenson

    (National Cancer Institute)

  • Marbin Pineda

    (National Cancer Institute)

  • Roxana Stefanescu

    (Palantir Technologies, 1025 Thomas Jefferson St)

  • Daniel C. Edelman

    (National Cancer Institute)

  • Andrew T. Girvin

    (Palantir Technologies, 1025 Thomas Jefferson St)

  • Adriana Zingone

    (National Cancer Institute)

  • Sanju Sinha

    (National Cancer Institute
    National Cancer Institute)

  • Elise Bowman

    (National Cancer Institute)

  • Emily L. Rossi

    (National Cancer Institute)

  • Rony F. Arauz

    (National Cancer Institute)

  • Yuelin Jack Zhu

    (National Cancer Institute)

  • Justin Lack

    (National Institutes of Health
    Advanced Biomedical Computational Science, Frederick National Laboratory for Cancer Research sponsored by the National Cancer Institute)

  • Elizabeth Weingartner

    (Personal Genome Diagnostics)

  • Joshua J. Waterfall

    (National Cancer Institute)

  • Sharon R. Pine

    (The State University of New Jersey)

  • John Simmons

    (Personal Genome Diagnostics)

  • Paul Meltzer

    (National Cancer Institute)

  • Bríd M. Ryan

    (National Cancer Institute)

Abstract

Reducing or eliminating persistent disparities in lung cancer incidence and survival has been challenging because our current understanding of lung cancer biology is derived primarily from populations of European descent. Here we show results from a targeted sequencing panel using NCI-MD Case Control Study patient samples and reveal a significantly higher prevalence of PTPRT and JAK2 mutations in lung adenocarcinomas among African Americans compared with European Americans. This increase in mutation frequency was validated with independent WES data from the NCI-MD Case Control Study and TCGA. We find that patients carrying these mutations have a concomitant increase in IL-6/STAT3 signaling and miR-21 expression. Together, these findings suggest the identification of these potentially actionable mutations could have clinical significance for targeted therapy and the enrollment of minority populations in clinical trials.

Suggested Citation

  • Khadijah A. Mitchell & Noah Nichols & Wei Tang & Jennifer Walling & Holly Stevenson & Marbin Pineda & Roxana Stefanescu & Daniel C. Edelman & Andrew T. Girvin & Adriana Zingone & Sanju Sinha & Elise B, 2019. "Recurrent PTPRT/JAK2 mutations in lung adenocarcinoma among African Americans," Nature Communications, Nature, vol. 10(1), pages 1-7, December.
    • Handle: RePEc:nat:natcom:v:10:y:2019:i:1:d:10.1038_s41467-019-13732-y
    DOI: 10.1038/s41467-019-13732-y
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