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Alternative BRAF mutations in BRAF V 600 E ‐negative hairy cell leukaemias
Author(s) -
Tschernitz Sebastian,
Flossbach Lucia,
Bonengel Margrit,
Roth Sabine,
Rosenwald Andreas,
Geissinger Eva
Publication year - 2014
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/bjh.12735
Subject(s) - exon , mutation , cancer research , biology , v600e , microbiology and biotechnology , medicine , genetics , gene
Summary The BRAF V 600 E mutation in exon 15 is considered the disease‐defining mutation in hairy cell leukaemia ( HCL ), but single HCL cases lacking this mutation have been described. In 24 HCL , as well as in 194 various mature B‐ and T‐cell neoplasms, we extended the search for BRAF mutations to exon 11. Two V600E‐negative HCL contained novel, potentially functionally relevant mutations in exon 11 (F468C and D449E), while one other HCL was BRAF wild‐type in exons 2–17. All non‐ HCL lymphomas lacked BRAF mutations. We therefore suggest screening of BRAF V600E‐negative HCL for alternative exon 11 mutations in the diagnostic setting.