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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
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Somatic mutations in histiocytic sarcoma identified by next generation sequencing.

Qingqing Liu1,2, Keith Tomaszewicz1, Lloyd Hutchinson1

  • 1Department of Pathology, UMass Memorial Medical Center and University of Massachusetts Medical School, Worcester, MA, USA.

Virchows Archiv : an International Journal of Pathology
|June 5, 2016
PubMed
Summary

Somatic mutations in the BRAF gene were identified in three out of five histiocytic sarcoma cases. These BRAF mutations may play a role in histiocytic sarcoma development and offer potential therapeutic targets.

Keywords:
BRAF proto-oncogeneHistiocytic sarcomaNext generation sequencingSomatic mutations

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Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • Histiocytic sarcoma is a rare cancer of unknown origin.
  • The role of somatic mutations in histiocytic sarcoma pathogenesis is not well understood.

Purpose of the Study:

  • To identify somatic mutations in histiocytic sarcoma.
  • To investigate the potential role of BRAF mutations in histiocytic sarcoma.

Main Methods:

  • Next-generation sequencing was used to analyze 50 hotspot oncogenes and tumor suppressor genes.
  • Five histiocytic sarcoma samples and matched normal tissues were studied.

Main Results:

  • Three of five histiocytic sarcoma cases harbored somatic mutations in BRAF.
  • Specific BRAF mutations (G464V, G466R, N581S) were identified with varying variant frequencies.
  • No BRAF mutations were found in nine acute monocytic/monoblastic leukemia cases.

Conclusions:

  • BRAF mutations are present in a subset of histiocytic sarcomas.
  • These findings suggest BRAF mutations may contribute to histiocytic sarcoma tumorigenesis.
  • The identified mutations may represent potential therapeutic targets for histiocytic sarcoma.