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 |
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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 |
format | Article |
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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 . . .</description><identifier>ISSN: 0028-4793</identifier><identifier>EISSN: 1533-4406</identifier><identifier>DOI: 10.1056/NEJMoa1014209</identifier><identifier>PMID: 21663470</identifier><identifier>CODEN: NEJMAG</identifier><language>eng</language><publisher>Waltham, MA: Massachusetts Medical Society</publisher><subject>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</subject><ispartof>The New England journal of medicine, 2011-06, Vol.364 (24), p.2305-2315</ispartof><rights>Copyright © 2011 Massachusetts Medical Society. All rights reserved.</rights><rights>2015 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c462t-2171f5251a863cb58728488b11ade9ce352badaf0fdde22048cb018102cd6823</citedby><cites>FETCH-LOGICAL-c462t-2171f5251a863cb58728488b11ade9ce352badaf0fdde22048cb018102cd6823</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.nejm.org/doi/pdf/10.1056/NEJMoa1014209$$EPDF$$P50$$Gmms$$H</linktopdf><linktohtml>$$Uhttps://www.nejm.org/doi/full/10.1056/NEJMoa1014209$$EHTML$$P50$$Gmms$$H</linktohtml><link.rule.ids>230,314,776,780,881,2746,2747,26080,27901,27902,52357,54039</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=24238498$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/21663470$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Tiacci, Enrico</creatorcontrib><creatorcontrib>Trifonov, Vladimir</creatorcontrib><creatorcontrib>Schiavoni, Gianluca</creatorcontrib><creatorcontrib>Holmes, Antony</creatorcontrib><creatorcontrib>Kern, Wolfgang</creatorcontrib><creatorcontrib>Martelli, Maria Paola</creatorcontrib><creatorcontrib>Pucciarini, Alessandra</creatorcontrib><creatorcontrib>Bigerna, Barbara</creatorcontrib><creatorcontrib>Pacini, Roberta</creatorcontrib><creatorcontrib>Wells, Victoria A</creatorcontrib><creatorcontrib>Sportoletti, Paolo</creatorcontrib><creatorcontrib>Pettirossi, Valentina</creatorcontrib><creatorcontrib>Mannucci, Roberta</creatorcontrib><creatorcontrib>Elliott, Oliver</creatorcontrib><creatorcontrib>Liso, Arcangelo</creatorcontrib><creatorcontrib>Ambrosetti, Achille</creatorcontrib><creatorcontrib>Pulsoni, Alessandro</creatorcontrib><creatorcontrib>Forconi, Francesco</creatorcontrib><creatorcontrib>Trentin, Livio</creatorcontrib><creatorcontrib>Semenzato, Gianpietro</creatorcontrib><creatorcontrib>Inghirami, Giorgio</creatorcontrib><creatorcontrib>Capponi, Monia</creatorcontrib><creatorcontrib>Di Raimondo, Francesco</creatorcontrib><creatorcontrib>Patti, Caterina</creatorcontrib><creatorcontrib>Arcaini, Luca</creatorcontrib><creatorcontrib>Musto, Pellegrino</creatorcontrib><creatorcontrib>Pileri, Stefano</creatorcontrib><creatorcontrib>Haferlach, Claudia</creatorcontrib><creatorcontrib>Haferlach, Torsten</creatorcontrib><creatorcontrib>Schnittger, Susanne</creatorcontrib><creatorcontrib>Pizzolo, Giovanni</creatorcontrib><creatorcontrib>Foà, Robin</creatorcontrib><creatorcontrib>Farinelli, Laurent</creatorcontrib><creatorcontrib>Pasqualucci, Laura</creatorcontrib><creatorcontrib>Rabadan, Raul</creatorcontrib><creatorcontrib>Falini, Brunangelo</creatorcontrib><title>BRAF Mutations in Hairy-Cell Leukemia</title><title>The New England journal of medicine</title><addtitle>N Engl J Med</addtitle><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 . . .</description><subject>Adult</subject><subject>Aged</subject><subject>B-cell lymphoma</subject><subject>Biological and medical sciences</subject><subject>Bone marrow</subject><subject>Deoxyribonucleic acid</subject><subject>DNA</subject><subject>Extracellular signal-regulated kinase</subject><subject>Extracellular Signal-Regulated MAP Kinases - metabolism</subject><subject>Female</subject><subject>Flow cytometry</subject><subject>General aspects</subject><subject>Genetic analysis</subject><subject>Genomes</subject><subject>Hairy cells</subject><subject>Hematologic and hematopoietic diseases</subject><subject>Hematology</subject><subject>Humans</subject><subject>Kinases</subject><subject>Leukemia</subject><subject>Leukemia, Hairy Cell - genetics</subject><subject>Leukemia, Hairy Cell - metabolism</subject><subject>Leukemia, Hairy Cell - pathology</subject><subject>Leukemias. 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 ; 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</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c462t-2171f5251a863cb58728488b11ade9ce352badaf0fdde22048cb018102cd6823</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2011</creationdate><topic>Adult</topic><topic>Aged</topic><topic>B-cell lymphoma</topic><topic>Biological and medical sciences</topic><topic>Bone marrow</topic><topic>Deoxyribonucleic acid</topic><topic>DNA</topic><topic>Extracellular signal-regulated kinase</topic><topic>Extracellular Signal-Regulated MAP Kinases - metabolism</topic><topic>Female</topic><topic>Flow cytometry</topic><topic>General aspects</topic><topic>Genetic analysis</topic><topic>Genomes</topic><topic>Hairy cells</topic><topic>Hematologic and hematopoietic diseases</topic><topic>Hematology</topic><topic>Humans</topic><topic>Kinases</topic><topic>Leukemia</topic><topic>Leukemia, Hairy Cell - genetics</topic><topic>Leukemia, Hairy Cell - metabolism</topic><topic>Leukemia, Hairy Cell - pathology</topic><topic>Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis</topic><topic>Lymphocytes B</topic><topic>Lymphoma</topic><topic>Lymphoma, B-Cell - genetics</topic><topic>Lymphoma, B-Cell - pathology</topic><topic>Male</topic><topic>MAP kinase</topic><topic>MAP Kinase Kinase Kinases - metabolism</topic><topic>Medical diagnosis</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Mutation</topic><topic>Patients</topic><topic>Peripheral blood</topic><topic>Protein kinase</topic><topic>Proto-Oncogene Proteins B-raf - genetics</topic><topic>Sequence Analysis, DNA</topic><topic>Spleen</topic><topic>Tumors</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Tiacci, Enrico</creatorcontrib><creatorcontrib>Trifonov, Vladimir</creatorcontrib><creatorcontrib>Schiavoni, Gianluca</creatorcontrib><creatorcontrib>Holmes, Antony</creatorcontrib><creatorcontrib>Kern, Wolfgang</creatorcontrib><creatorcontrib>Martelli, Maria Paola</creatorcontrib><creatorcontrib>Pucciarini, Alessandra</creatorcontrib><creatorcontrib>Bigerna, Barbara</creatorcontrib><creatorcontrib>Pacini, Roberta</creatorcontrib><creatorcontrib>Wells, Victoria A</creatorcontrib><creatorcontrib>Sportoletti, Paolo</creatorcontrib><creatorcontrib>Pettirossi, Valentina</creatorcontrib><creatorcontrib>Mannucci, Roberta</creatorcontrib><creatorcontrib>Elliott, Oliver</creatorcontrib><creatorcontrib>Liso, Arcangelo</creatorcontrib><creatorcontrib>Ambrosetti, Achille</creatorcontrib><creatorcontrib>Pulsoni, Alessandro</creatorcontrib><creatorcontrib>Forconi, Francesco</creatorcontrib><creatorcontrib>Trentin, Livio</creatorcontrib><creatorcontrib>Semenzato, Gianpietro</creatorcontrib><creatorcontrib>Inghirami, Giorgio</creatorcontrib><creatorcontrib>Capponi, Monia</creatorcontrib><creatorcontrib>Di Raimondo, Francesco</creatorcontrib><creatorcontrib>Patti, Caterina</creatorcontrib><creatorcontrib>Arcaini, Luca</creatorcontrib><creatorcontrib>Musto, Pellegrino</creatorcontrib><creatorcontrib>Pileri, Stefano</creatorcontrib><creatorcontrib>Haferlach, Claudia</creatorcontrib><creatorcontrib>Haferlach, Torsten</creatorcontrib><creatorcontrib>Schnittger, Susanne</creatorcontrib><creatorcontrib>Pizzolo, Giovanni</creatorcontrib><creatorcontrib>Foà, Robin</creatorcontrib><creatorcontrib>Farinelli, Laurent</creatorcontrib><creatorcontrib>Pasqualucci, Laura</creatorcontrib><creatorcontrib>Rabadan, Raul</creatorcontrib><creatorcontrib>Falini, Brunangelo</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Pharma and Biotech Premium PRO</collection><collection>Nursing & Allied Health Database</collection><collection>Health Medical collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>ProQuest Pharma Collection</collection><collection>Public Health Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>ProQuest Central (Alumni)</collection><collection>ProQuest Central UK/Ireland</collection><collection>British Nursing Database</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>eLibrary</collection><collection>ProQuest Central</collection><collection>ProQuest Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>Research Library Prep</collection><collection>SciTech Premium Collection</collection><collection>New England Journal of Medicine</collection><collection>Biological Sciences</collection><collection>Consumer Health Database</collection><collection>Healthcare Administration Database</collection><collection>Medical Database</collection><collection>Psychology Database</collection><collection>ProQuest_Research Library</collection><collection>Science Database</collection><collection>Biological Science Database</collection><collection>Research Library (Corporate)</collection><collection>Nursing & Allied Health Premium</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest One Psychology</collection><collection>ProQuest Central Basic</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>The New England journal of medicine</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Tiacci, Enrico</au><au>Trifonov, Vladimir</au><au>Schiavoni, Gianluca</au><au>Holmes, Antony</au><au>Kern, Wolfgang</au><au>Martelli, Maria Paola</au><au>Pucciarini, Alessandra</au><au>Bigerna, Barbara</au><au>Pacini, Roberta</au><au>Wells, Victoria A</au><au>Sportoletti, Paolo</au><au>Pettirossi, Valentina</au><au>Mannucci, Roberta</au><au>Elliott, Oliver</au><au>Liso, Arcangelo</au><au>Ambrosetti, Achille</au><au>Pulsoni, Alessandro</au><au>Forconi, Francesco</au><au>Trentin, Livio</au><au>Semenzato, Gianpietro</au><au>Inghirami, Giorgio</au><au>Capponi, Monia</au><au>Di Raimondo, Francesco</au><au>Patti, Caterina</au><au>Arcaini, Luca</au><au>Musto, Pellegrino</au><au>Pileri, Stefano</au><au>Haferlach, Claudia</au><au>Haferlach, Torsten</au><au>Schnittger, Susanne</au><au>Pizzolo, Giovanni</au><au>Foà, Robin</au><au>Farinelli, Laurent</au><au>Pasqualucci, Laura</au><au>Rabadan, Raul</au><au>Falini, Brunangelo</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>BRAF Mutations in Hairy-Cell Leukemia</atitle><jtitle>The New England journal of medicine</jtitle><addtitle>N Engl J Med</addtitle><date>2011-06-16</date><risdate>2011</risdate><volume>364</volume><issue>24</issue><spage>2305</spage><epage>2315</epage><pages>2305-2315</pages><issn>0028-4793</issn><eissn>1533-4406</eissn><coden>NEJMAG</coden><abstract>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 . . .</abstract><cop>Waltham, MA</cop><pub>Massachusetts Medical Society</pub><pmid>21663470</pmid><doi>10.1056/NEJMoa1014209</doi><tpages>11</tpages></addata></record> |
fulltext | fulltext |
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 |
url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-07T15%3A43%3A29IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=BRAF%20Mutations%20in%20Hairy-Cell%20Leukemia&rft.jtitle=The%20New%20England%20journal%20of%20medicine&rft.au=Tiacci,%20Enrico&rft.date=2011-06-16&rft.volume=364&rft.issue=24&rft.spage=2305&rft.epage=2315&rft.pages=2305-2315&rft.issn=0028-4793&rft.eissn=1533-4406&rft.coden=NEJMAG&rft_id=info:doi/10.1056/NEJMoa1014209&rft_dat=%3Cproquest_pubme%3E2377138441%3C/proquest_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=2116110206&rft_id=info:pmid/21663470&rfr_iscdi=true |