Investigation of the BRAF V600E mutation by pyrosequencing in lymphoproliferative disorders

Javier A. Laurini, Patricia Aoun, Javeed Iqbal, Wing Chan, Timothy C. Greiner

Research output: Contribution to journalArticlepeer-review

23 Scopus citations


The presence of the BRAF c.1799T>A V600E mutation was recently described in cases of hairy cell leukemia (HCL) but not in other common lymphomas. However, many uncommon subtypes of lymphoma have not been studied. We designed a BRAF pyrosequencing assay specific for the V600E mutation, which has a sensitivity of 5% and is applicable to paraffin-embedded tissue. DNA was sequenced in 9 cases of HCL; 6 cases of variant HCL; 10 cases each of nodal marginal zone lymphoma (NMZL), extranodal marginal zone lymphoma (ENMZL), posttransplantation lymphoproliferative disorder (PTLD), and large granular lymphocyte (LGL) proliferations; 11 cases of peripheral T-cell lymphoma (PTCL); and 12 cases of anaplastic large cell lymphoma (ALCL). All (100%) cases of HCL were positive for BRAF mutations. No mutations were identified in variant HCL, NMZL, ENMZL, PTLD, PTCL, ALCL, or LGL proliferations. Among lymphoproliferative disorders, BRAF mutations are restricted to HCL.

Original languageEnglish (US)
Pages (from-to)877-883
Number of pages7
JournalAmerican journal of clinical pathology
Issue number6
StatePublished - Dec 2012
Externally publishedYes


  • BRAF mutations
  • Hairy cell leukemia
  • Lymphoma
  • PTLD
  • Pyrosequencing

ASJC Scopus subject areas

  • Pathology and Forensic Medicine


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