BRAF Mutations in Hairy-Cell Leukemia

In this study, investigators identified activating mutations in BRAF (specifically V600E, which is also present in some melanomas and thyroid cancers) in all 48 patients with hairy-cell leukemia who were evaluated. Hairy-cell leukemia (HCL) is a distinct disease entity that is characterized by an in...

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Veröffentlicht in:The New England journal of medicine 2011-06, Vol.364 (24), p.2305-2315
Hauptverfasser: Tiacci, Enrico, Trifonov, Vladimir, Schiavoni, Gianluca, Holmes, Antony, Kern, Wolfgang, Martelli, Maria Paola, Pucciarini, Alessandra, Bigerna, Barbara, Pacini, Roberta, Wells, Victoria A, Sportoletti, Paolo, Pettirossi, Valentina, Mannucci, Roberta, Elliott, Oliver, Liso, Arcangelo, Ambrosetti, Achille, Pulsoni, Alessandro, Forconi, Francesco, Trentin, Livio, Semenzato, Gianpietro, Inghirami, Giorgio, Capponi, Monia, Di Raimondo, Francesco, Patti, Caterina, Arcaini, Luca, Musto, Pellegrino, Pileri, Stefano, Haferlach, Claudia, Haferlach, Torsten, Schnittger, Susanne, Pizzolo, Giovanni, Foà, Robin, Farinelli, Laurent, Pasqualucci, Laura, Rabadan, Raul, Falini, Brunangelo
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container_end_page 2315
container_issue 24
container_start_page 2305
container_title The New England journal of medicine
container_volume 364
creator Tiacci, Enrico
Trifonov, Vladimir
Schiavoni, Gianluca
Holmes, Antony
Kern, Wolfgang
Martelli, Maria Paola
Pucciarini, Alessandra
Bigerna, Barbara
Pacini, Roberta
Wells, Victoria A
Sportoletti, Paolo
Pettirossi, Valentina
Mannucci, Roberta
Elliott, Oliver
Liso, Arcangelo
Ambrosetti, Achille
Pulsoni, Alessandro
Forconi, Francesco
Trentin, Livio
Semenzato, Gianpietro
Inghirami, Giorgio
Capponi, Monia
Di Raimondo, Francesco
Patti, Caterina
Arcaini, Luca
Musto, Pellegrino
Pileri, Stefano
Haferlach, Claudia
Haferlach, Torsten
Schnittger, Susanne
Pizzolo, Giovanni
Foà, Robin
Farinelli, Laurent
Pasqualucci, Laura
Rabadan, Raul
Falini, Brunangelo
description In this study, investigators identified activating mutations in BRAF (specifically V600E, which is also present in some melanomas and thyroid cancers) in all 48 patients with hairy-cell leukemia who were evaluated. Hairy-cell leukemia (HCL) is a distinct disease entity that is characterized by an indolent course, marked splenomegaly, progressive pancytopenia in many cases, and rare circulating tumor cells, usually with no lymphadenopathy. 1 The bone marrow, spleen, and liver are characteristically infiltrated by leukemic B cells that have abundant cytoplasm with hairy-looking projections and unique immunophenotypic features. 2 , 3 Currently, the treatment of HCL is based on highly effective purine nucleoside analogues. 4 In spite of the remarkable progress in the diagnosis and treatment of HCL during the past 50 years, the underlying genetic alterations that cause the disease remain obscure. 3 Major obstacles to . . .
doi_str_mv 10.1056/NEJMoa1014209
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Malignant lymphomas. Malignant reticulosis. Myelofibrosis ; Lymphocytes B ; Lymphoma ; Lymphoma, B-Cell - genetics ; Lymphoma, B-Cell - pathology ; Male ; MAP kinase ; MAP Kinase Kinase Kinases - metabolism ; Medical diagnosis ; Medical sciences ; Middle Aged ; Mutation ; Patients ; Peripheral blood ; Protein kinase ; Proto-Oncogene Proteins B-raf - genetics ; Sequence Analysis, DNA ; Spleen ; Tumors</subject><ispartof>The New England journal of medicine, 2011-06, Vol.364 (24), p.2305-2315</ispartof><rights>Copyright © 2011 Massachusetts Medical Society. 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Malignant lymphomas. Malignant reticulosis. Myelofibrosis</subject><subject>Lymphocytes B</subject><subject>Lymphoma</subject><subject>Lymphoma, B-Cell - genetics</subject><subject>Lymphoma, B-Cell - pathology</subject><subject>Male</subject><subject>MAP kinase</subject><subject>MAP Kinase Kinase Kinases - metabolism</subject><subject>Medical diagnosis</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>Patients</subject><subject>Peripheral blood</subject><subject>Protein kinase</subject><subject>Proto-Oncogene Proteins B-raf - genetics</subject><subject>Sequence Analysis, DNA</subject><subject>Spleen</subject><subject>Tumors</subject><issn>0028-4793</issn><issn>1533-4406</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2011</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BEC</sourceid><sourceid>BENPR</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNp10U1LAzEQBuAgitbq0asURTytZpJsNnsRammt0iqI95DNZjV1P2qyK_jvTbF-grnkkIfJvDMIHQA-Axzz89vxzbxRgIERnG6gHsSURoxhvol6GBMRsSSlO2jX-wUOB1i6jXYIcE5Zgnvo5PJ-OBnMu1a1tqn9wNaDqbLuLRqZshzMTPdsKqv20FahSm_213cfPUzGD6NpNLu7uh4NZ5FmnLQRgQSKmMSgBKc6i0VCBBMiA1C5SbWhMclUrgpc5LkhBDOhMwwCMNE5F4T20cVH2WWXVSbXpm6dKuXS2Uq5N9koK3-_1PZJPjavknKRxiIOBU7XBVzz0hnfysp6HZKo2jSdl6GhMBoKEOTRH7loOleHcCsUIggQAR3_hwgAh9A45kFFH0q7xntniq-GAcvVjuSvHQV_-DPll_5cSgAna6C8VmXhVK2t_3aMUMFS8e2qysvaLKp_PnwH6WGhbA</recordid><startdate>20110616</startdate><enddate>20110616</enddate><creator>Tiacci, Enrico</creator><creator>Trifonov, Vladimir</creator><creator>Schiavoni, Gianluca</creator><creator>Holmes, Antony</creator><creator>Kern, Wolfgang</creator><creator>Martelli, Maria Paola</creator><creator>Pucciarini, Alessandra</creator><creator>Bigerna, Barbara</creator><creator>Pacini, Roberta</creator><creator>Wells, Victoria A</creator><creator>Sportoletti, Paolo</creator><creator>Pettirossi, Valentina</creator><creator>Mannucci, Roberta</creator><creator>Elliott, Oliver</creator><creator>Liso, Arcangelo</creator><creator>Ambrosetti, Achille</creator><creator>Pulsoni, Alessandro</creator><creator>Forconi, Francesco</creator><creator>Trentin, Livio</creator><creator>Semenzato, Gianpietro</creator><creator>Inghirami, Giorgio</creator><creator>Capponi, Monia</creator><creator>Di Raimondo, Francesco</creator><creator>Patti, Caterina</creator><creator>Arcaini, Luca</creator><creator>Musto, Pellegrino</creator><creator>Pileri, Stefano</creator><creator>Haferlach, Claudia</creator><creator>Haferlach, Torsten</creator><creator>Schnittger, Susanne</creator><creator>Pizzolo, Giovanni</creator><creator>Foà, Robin</creator><creator>Farinelli, Laurent</creator><creator>Pasqualucci, Laura</creator><creator>Rabadan, Raul</creator><creator>Falini, Brunangelo</creator><general>Massachusetts Medical Society</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>0TZ</scope><scope>7RV</scope><scope>7X7</scope><scope>7XB</scope><scope>8AO</scope><scope>8C1</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AN0</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BEC</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>HCIFZ</scope><scope>K0Y</scope><scope>LK8</scope><scope>M0R</scope><scope>M0T</scope><scope>M1P</scope><scope>M2M</scope><scope>M2O</scope><scope>M2P</scope><scope>M7P</scope><scope>MBDVC</scope><scope>NAPCQ</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>PSYQQ</scope><scope>Q9U</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20110616</creationdate><title>BRAF Mutations in Hairy-Cell Leukemia</title><author>Tiacci, Enrico ; 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Hairy-cell leukemia (HCL) is a distinct disease entity that is characterized by an indolent course, marked splenomegaly, progressive pancytopenia in many cases, and rare circulating tumor cells, usually with no lymphadenopathy. 1 The bone marrow, spleen, and liver are characteristically infiltrated by leukemic B cells that have abundant cytoplasm with hairy-looking projections and unique immunophenotypic features. 2 , 3 Currently, the treatment of HCL is based on highly effective purine nucleoside analogues. 4 In spite of the remarkable progress in the diagnosis and treatment of HCL during the past 50 years, the underlying genetic alterations that cause the disease remain obscure. 3 Major obstacles to . . .</abstract><cop>Waltham, MA</cop><pub>Massachusetts Medical Society</pub><pmid>21663470</pmid><doi>10.1056/NEJMoa1014209</doi><tpages>11</tpages></addata></record>
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identifier ISSN: 0028-4793
ispartof The New England journal of medicine, 2011-06, Vol.364 (24), p.2305-2315
issn 0028-4793
1533-4406
language eng
recordid cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3689585
source MEDLINE; New England Journal of Medicine Current; EZB Electronic Journals Library
subjects Adult
Aged
B-cell lymphoma
Biological and medical sciences
Bone marrow
Deoxyribonucleic acid
DNA
Extracellular signal-regulated kinase
Extracellular Signal-Regulated MAP Kinases - metabolism
Female
Flow cytometry
General aspects
Genetic analysis
Genomes
Hairy cells
Hematologic and hematopoietic diseases
Hematology
Humans
Kinases
Leukemia
Leukemia, Hairy Cell - genetics
Leukemia, Hairy Cell - metabolism
Leukemia, Hairy Cell - pathology
Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis
Lymphocytes B
Lymphoma
Lymphoma, B-Cell - genetics
Lymphoma, B-Cell - pathology
Male
MAP kinase
MAP Kinase Kinase Kinases - metabolism
Medical diagnosis
Medical sciences
Middle Aged
Mutation
Patients
Peripheral blood
Protein kinase
Proto-Oncogene Proteins B-raf - genetics
Sequence Analysis, DNA
Spleen
Tumors
title BRAF Mutations in Hairy-Cell Leukemia
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