Alternative BRAF mutations in BRAF V600E‐negative hairy cell leukaemias
Summary The BRAF V600E 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...
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| Veröffentlicht in: | British journal of haematology 2014-05, Vol.165 (4), p.529-533 |
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| container_title | British journal of haematology |
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| creator | Tschernitz, Sebastian Flossbach, Lucia Bonengel, Margrit Roth, Sabine Rosenwald, Andreas Geissinger, Eva |
| description | Summary
The BRAF V600E 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. |
| doi_str_mv | 10.1111/bjh.12735 |
| format | Article |
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The BRAF V600E 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.</description><identifier>ISSN: 0007-1048</identifier><identifier>EISSN: 1365-2141</identifier><identifier>DOI: 10.1111/bjh.12735</identifier><identifier>PMID: 24433452</identifier><identifier>CODEN: BJHEAL</identifier><language>eng</language><publisher>Oxford: Blackwell</publisher><subject>Adult ; Aged ; Aged, 80 and over ; alternative mutations ; Biological and medical sciences ; BRAF ; diagnostics ; DNA Mutational Analysis ; DNA, Neoplasm - genetics ; exon 11 ; Exons - genetics ; Female ; hairy cell leukaemia ; Hematologic and hematopoietic diseases ; Humans ; Leukemia, Hairy Cell - genetics ; Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis ; Lymphoma, B-Cell - genetics ; Lymphoma, T-Cell - genetics ; Male ; Medical sciences ; Middle Aged ; Proto-Oncogene Proteins B-raf - chemistry ; Proto-Oncogene Proteins B-raf - genetics ; Sequence Analysis, DNA ; Tumors</subject><ispartof>British journal of haematology, 2014-05, Vol.165 (4), p.529-533</ispartof><rights>2014 John Wiley & Sons Ltd</rights><rights>2015 INIST-CNRS</rights><rights>2014 John Wiley & Sons Ltd.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3885-c190d656803979215441d0da3374b364e88fa89789682a0917751bca8224c20d3</citedby><cites>FETCH-LOGICAL-c3885-c190d656803979215441d0da3374b364e88fa89789682a0917751bca8224c20d3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fbjh.12735$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fbjh.12735$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,1427,27901,27902,45550,45551,46384,46808</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=28475705$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/24433452$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Tschernitz, Sebastian</creatorcontrib><creatorcontrib>Flossbach, Lucia</creatorcontrib><creatorcontrib>Bonengel, Margrit</creatorcontrib><creatorcontrib>Roth, Sabine</creatorcontrib><creatorcontrib>Rosenwald, Andreas</creatorcontrib><creatorcontrib>Geissinger, Eva</creatorcontrib><title>Alternative BRAF mutations in BRAF V600E‐negative hairy cell leukaemias</title><title>British journal of haematology</title><addtitle>Br J Haematol</addtitle><description>Summary
The BRAF V600E 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.</description><subject>Adult</subject><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>alternative mutations</subject><subject>Biological and medical sciences</subject><subject>BRAF</subject><subject>diagnostics</subject><subject>DNA Mutational Analysis</subject><subject>DNA, Neoplasm - genetics</subject><subject>exon 11</subject><subject>Exons - genetics</subject><subject>Female</subject><subject>hairy cell leukaemia</subject><subject>Hematologic and hematopoietic diseases</subject><subject>Humans</subject><subject>Leukemia, Hairy Cell - genetics</subject><subject>Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis</subject><subject>Lymphoma, B-Cell - genetics</subject><subject>Lymphoma, T-Cell - genetics</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Proto-Oncogene Proteins B-raf - chemistry</subject><subject>Proto-Oncogene Proteins B-raf - genetics</subject><subject>Sequence Analysis, DNA</subject><subject>Tumors</subject><issn>0007-1048</issn><issn>1365-2141</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2014</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqN0MtKw0AUBuBBFFurC19AshF0kfacuWQmy7a0tlIQRN2GaTK1qbnUTKJ05yP4jD6Jqam6EpzNMMPHfw4_IacIXaxPb75adpFKJvZIG5knXIoc90kbAKSLwFWLHFm7AkAGAg9Ji3LOGBe0Tab9pDRFpsv4xTiD2_7YSauyfuWZdeKs-XnwAEYfb--ZeWzcUsfFxglNkjiJqZ60SWNtj8nBQifWnOzuDrkfj-6GE3d2czUd9mduyJQSbog-RJ7wFDBf-hQF5xhBpBmTfM48bpRaaOVL5XuKavBRSoHzUCtKeUghYh1y0eSui_y5MrYM0thud9GZySsboGBccUU9-g-KSqGHyq_pZUPDIre2MItgXcSpLjYBQrAtOahLDr5Kru3ZLraapyb6kd-t1uB8B7QNdbIodBbG9tcpLoWEbVCvca9xYjZ_TwwG15Nm9CfTXI8r</recordid><startdate>201405</startdate><enddate>201405</enddate><creator>Tschernitz, Sebastian</creator><creator>Flossbach, Lucia</creator><creator>Bonengel, Margrit</creator><creator>Roth, Sabine</creator><creator>Rosenwald, Andreas</creator><creator>Geissinger, Eva</creator><general>Blackwell</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>7X8</scope><scope>7T5</scope><scope>H94</scope></search><sort><creationdate>201405</creationdate><title>Alternative BRAF mutations in BRAF V600E‐negative hairy cell leukaemias</title><author>Tschernitz, Sebastian ; Flossbach, Lucia ; Bonengel, Margrit ; Roth, Sabine ; Rosenwald, Andreas ; Geissinger, Eva</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3885-c190d656803979215441d0da3374b364e88fa89789682a0917751bca8224c20d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2014</creationdate><topic>Adult</topic><topic>Aged</topic><topic>Aged, 80 and over</topic><topic>alternative mutations</topic><topic>Biological and medical sciences</topic><topic>BRAF</topic><topic>diagnostics</topic><topic>DNA Mutational Analysis</topic><topic>DNA, Neoplasm - genetics</topic><topic>exon 11</topic><topic>Exons - genetics</topic><topic>Female</topic><topic>hairy cell leukaemia</topic><topic>Hematologic and hematopoietic diseases</topic><topic>Humans</topic><topic>Leukemia, Hairy Cell - genetics</topic><topic>Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis</topic><topic>Lymphoma, B-Cell - genetics</topic><topic>Lymphoma, T-Cell - genetics</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Proto-Oncogene Proteins B-raf - chemistry</topic><topic>Proto-Oncogene Proteins B-raf - genetics</topic><topic>Sequence Analysis, DNA</topic><topic>Tumors</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Tschernitz, Sebastian</creatorcontrib><creatorcontrib>Flossbach, Lucia</creatorcontrib><creatorcontrib>Bonengel, Margrit</creatorcontrib><creatorcontrib>Roth, Sabine</creatorcontrib><creatorcontrib>Rosenwald, Andreas</creatorcontrib><creatorcontrib>Geissinger, Eva</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>MEDLINE - Academic</collection><collection>Immunology Abstracts</collection><collection>AIDS and Cancer Research Abstracts</collection><jtitle>British journal of haematology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Tschernitz, Sebastian</au><au>Flossbach, Lucia</au><au>Bonengel, Margrit</au><au>Roth, Sabine</au><au>Rosenwald, Andreas</au><au>Geissinger, Eva</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Alternative BRAF mutations in BRAF V600E‐negative hairy cell leukaemias</atitle><jtitle>British journal of haematology</jtitle><addtitle>Br J Haematol</addtitle><date>2014-05</date><risdate>2014</risdate><volume>165</volume><issue>4</issue><spage>529</spage><epage>533</epage><pages>529-533</pages><issn>0007-1048</issn><eissn>1365-2141</eissn><coden>BJHEAL</coden><abstract>Summary
The BRAF V600E 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.</abstract><cop>Oxford</cop><pub>Blackwell</pub><pmid>24433452</pmid><doi>10.1111/bjh.12735</doi><tpages>5</tpages></addata></record> |
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| subjects | Adult Aged Aged, 80 and over alternative mutations Biological and medical sciences BRAF diagnostics DNA Mutational Analysis DNA, Neoplasm - genetics exon 11 Exons - genetics Female hairy cell leukaemia Hematologic and hematopoietic diseases Humans Leukemia, Hairy Cell - genetics Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis Lymphoma, B-Cell - genetics Lymphoma, T-Cell - genetics Male Medical sciences Middle Aged Proto-Oncogene Proteins B-raf - chemistry Proto-Oncogene Proteins B-raf - genetics Sequence Analysis, DNA Tumors |
| title | Alternative BRAF mutations in BRAF V600E‐negative hairy cell leukaemias |
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