BRAF Mutations in Hairy-Cell Leukemia
نویسندگان
چکیده
Enrico Tiacci, M.D., Vladimir Trifonov, Ph.D., Gianluca Schiavoni, Ph.D., Antony Holmes, Ph.D., Wolfgang Kern, M.D., Maria Paola Martelli, M.D., Alessandra Pucciarini, Ph.D., Barbara Bigerna, B.Sc., Roberta Pacini, B.Sc., Victoria A. Wells, B.Sc., Paolo Sportoletti, M.D., Valentina Pettirossi, Ph.D., Roberta Mannucci, Ph.D., Oliver Elliott, M.Sc., Arcangelo Liso, M.D., Achille Ambrosetti, M.D., Alessandro Pulsoni, M.D., Francesco Forconi, M.D., Livio Trentin, M.D., Gianpietro Semenzato, M.D., Giorgio Inghirami, M.D., Monia Capponi, M.D., Francesco Di Raimondo, M.D., Caterina Patti, M.D., Luca Arcaini, M.D., Pellegrino Musto, M.D., Stefano Pileri, M.D., Claudia Haferlach, M.D., Susanne Schnittger, Ph.D., Giovanni Pizzolo, M.D., Robin Foà, M.D., Laurent Farinelli, Ph.D., Torsten Haferlach, M.D., Laura Pasqualucci, M.D., Raul Rabadan, Ph.D., and Brunangelo Falini, M.D.
منابع مشابه
Detection of BRAF mutations in patients with hairy cell leukemia and related lymphoproliferative disorders.
Hairy cell leukemia has been shown to be strongly associated with the BRAF V600E mutation. We screened 59 unenriched archived bone marrow aspirate and peripheral blood samples from 51 patients with hairy cell leukemia using high resolution melting analysis and confirmatory Sanger sequencing. The BRAF V600E mutation was detected in 38 samples (from 36 patients). The BRAF V600E mutation was detec...
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BRAF protein is a serine/threonine kinase with 766 amino acids. Approximately 15% of human cancers harbor BRAF mutations as well as other BRAF anomalies (amplifications, fusions). Somatic mutations mainly occur in the catalytic kinase domain (CR3), and the predominant mutation is p.V600E which is the substitution of glutamic acid (E) for valine (V) as result of a mutation at codon 600 of the ki...
متن کاملInvestigation of the BRAF V600E mutation by pyrosequencing in lymphoproliferative disorders.
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 HC...
متن کاملBRAF Mutation in Hairy Cell Leukemia
BRAF is a serine/threonine kinase with a regulatory role in the mitogen-activated protein kinase (MAPK) signaling pathway. A mutation in the RAF gene, especially in BRAF protein, leads to an increased stimulation of this cascade, causing uncontrolled cell division and development of malignancy. Several mutations have been observed in the gene coding for this protein in a variety of human malign...
متن کاملBRAF mutations in hairy-cell leukemia.
BACKGROUND Hairy-cell leukemia (HCL) is a well-defined clinicopathological entity whose underlying genetic lesion is still obscure. METHODS We searched for HCL-associated mutations by performing massively parallel sequencing of the whole exome of leukemic and matched normal cells purified from the peripheral blood of an index patient with HCL. Findings were validated by Sanger sequencing in 4...
متن کاملBRAF V600E and MAP2K1 Mutations in Hairy Cell Leukemia and Splenic Marginal Zone Lymphoma Cases
Dear Editor, Differentiation of classic hairy cell leukemia (HCL-c) from HCLvariant (HCL-v) or splenic marginal zone lymphoma (SMZL) is important owing to their different treatment strategies and prognostic implications. Recently, testing for BRAF V600E mutations was suggested as an important diagnostic option for HCL-considering that it was exclusively detected in almost all cases [1]. The BRA...
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