Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in refractory anaemia with ring sideroblasts and marked thrombocytosis
Refractory anaemia with ring sideroblasts (RARS) and marked thrombocytosis (RARS-T) is a provisional entity in the World Health Organisation 2008 classification and has previously been shown to have a high proportion of JAK2(V617F) (Janus Kinase 2) and SF3B1 (Splicing Factor 3B subunit 1) mutations....
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| Veröffentlicht in: | Leukemia 2013-09, Vol.27 (9), p.1826-1831 |
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| creator | Broséus, J Alpermann, T Wulfert, M Florensa Brichs, L Jeromin, S Lippert, E Rozman, M Lifermann, F Grossmann, V Haferlach, T Germing, U Luño, E Girodon, F Schnittger, S |
| description | Refractory anaemia with ring sideroblasts (RARS) and marked thrombocytosis (RARS-T) is a provisional entity in the World Health Organisation 2008 classification and has previously been shown to have a high proportion of JAK2(V617F) (Janus Kinase 2) and SF3B1 (Splicing Factor 3B subunit 1) mutations. The purpose of the present study was to analyse the frequency of SF3B1 mutations in a large cohort of 111 patients with RARS-T and 33 patients with RARS and to explore the prognostic impact of SF3B1 mutational status on RARS-T. The frequency of SF3B1 mutations in RARS-T (96/111, 86.5%) and RARS (28/33, 84.8%) was similar. In RARS-T, median survival was better in SF3B1-mutated patients than in SF3B1-non-mutated patients (6.9 and 3.3 years, respectively, P=0.003). RARS can be differentiated from RARS-T by the frequency of JAK2(V617F) (0% vs 48.6%). In RARS-T patients, SF3B1 (P=0.021) and JAK2 mutations (P=0.016) were independent factors for a better prognosis. Altogether, our results confirm that RARS-T is an independent entity that should be recognised by the next World Health Organisation classification. The assessment of SF3B1 mutations is of prognostic interest in RARS-T patients. Younger age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in RARS-T. |
| doi_str_mv | 10.1038/leu.2013.120 |
| format | Article |
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The purpose of the present study was to analyse the frequency of SF3B1 mutations in a large cohort of 111 patients with RARS-T and 33 patients with RARS and to explore the prognostic impact of SF3B1 mutational status on RARS-T. The frequency of SF3B1 mutations in RARS-T (96/111, 86.5%) and RARS (28/33, 84.8%) was similar. In RARS-T, median survival was better in SF3B1-mutated patients than in SF3B1-non-mutated patients (6.9 and 3.3 years, respectively, P=0.003). RARS can be differentiated from RARS-T by the frequency of JAK2(V617F) (0% vs 48.6%). In RARS-T patients, SF3B1 (P=0.021) and JAK2 mutations (P=0.016) were independent factors for a better prognosis. Altogether, our results confirm that RARS-T is an independent entity that should be recognised by the next World Health Organisation classification. The assessment of SF3B1 mutations is of prognostic interest in RARS-T patients. Younger age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in RARS-T.</description><identifier>EISSN: 1476-5551</identifier><identifier>DOI: 10.1038/leu.2013.120</identifier><identifier>PMID: 23594705</identifier><language>eng</language><publisher>England</publisher><subject>Adult ; Age Factors ; Aged ; Aged, 80 and over ; Anemia, Refractory - complications ; Anemia, Refractory - diagnosis ; Anemia, Refractory - genetics ; Anemia, Refractory - mortality ; Anemia, Sideroblastic - complications ; Chromosome Mapping ; Female ; Humans ; Janus Kinase 2 - genetics ; Karyotype ; Male ; Middle Aged ; Mutation ; Mutation Rate ; Phosphoproteins - genetics ; Prognosis ; Ribonucleoprotein, U2 Small Nuclear - genetics ; RNA Splicing Factors ; Thrombocytosis - complications ; Young Adult</subject><ispartof>Leukemia, 2013-09, Vol.27 (9), p.1826-1831</ispartof><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/23594705$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Broséus, J</creatorcontrib><creatorcontrib>Alpermann, T</creatorcontrib><creatorcontrib>Wulfert, M</creatorcontrib><creatorcontrib>Florensa Brichs, L</creatorcontrib><creatorcontrib>Jeromin, S</creatorcontrib><creatorcontrib>Lippert, E</creatorcontrib><creatorcontrib>Rozman, M</creatorcontrib><creatorcontrib>Lifermann, F</creatorcontrib><creatorcontrib>Grossmann, V</creatorcontrib><creatorcontrib>Haferlach, T</creatorcontrib><creatorcontrib>Germing, U</creatorcontrib><creatorcontrib>Luño, E</creatorcontrib><creatorcontrib>Girodon, F</creatorcontrib><creatorcontrib>Schnittger, S</creatorcontrib><creatorcontrib>MPN and MPNr-EuroNet (COST Action BM0902)</creatorcontrib><title>Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in refractory anaemia with ring sideroblasts and marked thrombocytosis</title><title>Leukemia</title><addtitle>Leukemia</addtitle><description>Refractory anaemia with ring sideroblasts (RARS) and marked thrombocytosis (RARS-T) is a provisional entity in the World Health Organisation 2008 classification and has previously been shown to have a high proportion of JAK2(V617F) (Janus Kinase 2) and SF3B1 (Splicing Factor 3B subunit 1) mutations. The purpose of the present study was to analyse the frequency of SF3B1 mutations in a large cohort of 111 patients with RARS-T and 33 patients with RARS and to explore the prognostic impact of SF3B1 mutational status on RARS-T. The frequency of SF3B1 mutations in RARS-T (96/111, 86.5%) and RARS (28/33, 84.8%) was similar. In RARS-T, median survival was better in SF3B1-mutated patients than in SF3B1-non-mutated patients (6.9 and 3.3 years, respectively, P=0.003). RARS can be differentiated from RARS-T by the frequency of JAK2(V617F) (0% vs 48.6%). In RARS-T patients, SF3B1 (P=0.021) and JAK2 mutations (P=0.016) were independent factors for a better prognosis. Altogether, our results confirm that RARS-T is an independent entity that should be recognised by the next World Health Organisation classification. The assessment of SF3B1 mutations is of prognostic interest in RARS-T patients. Younger age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in RARS-T.</description><subject>Adult</subject><subject>Age Factors</subject><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Anemia, Refractory - complications</subject><subject>Anemia, Refractory - diagnosis</subject><subject>Anemia, Refractory - genetics</subject><subject>Anemia, Refractory - mortality</subject><subject>Anemia, Sideroblastic - complications</subject><subject>Chromosome Mapping</subject><subject>Female</subject><subject>Humans</subject><subject>Janus Kinase 2 - genetics</subject><subject>Karyotype</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>Mutation Rate</subject><subject>Phosphoproteins - genetics</subject><subject>Prognosis</subject><subject>Ribonucleoprotein, U2 Small Nuclear - genetics</subject><subject>RNA Splicing Factors</subject><subject>Thrombocytosis - complications</subject><subject>Young Adult</subject><issn>1476-5551</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNo1kE1PwzAMhiMkxMbgxhnlOCQ24qZJu-OYGF-TODBxrZLW3QJtM5J0aP-En0s34GTJfvy8lgm5ADYGxtObCttxxICPIWJHpA9xIkdCCOiRU-_fGds35AnpRVxM4oSJPvmervCaPk2fo-GbhGR-RVVT0Nc5vwVat0EFYxtPlUMa1khrZRq6cViYPJhmRUuVB-s8La2jvnVbs1UV7RCHpTuMdp1OYW0U_TJhTd1-yZsCndWV8sEf0mrlPrDoApyttc13wXrjz8hxqSqP5391QJbzu-XsYbR4uX-cTRejDcQQRqXQkk0443FZIGIiUgCd8FSUPOeyQIh0KuNIAiiUutSIkrFCS51imiQRH5Dhr3bj7GeLPmS18TlWlWrQtj6DuHNPRJpCh17-oa2uscg2znSX77L_Z_IfOnV1Vg</recordid><startdate>201309</startdate><enddate>201309</enddate><creator>Broséus, J</creator><creator>Alpermann, T</creator><creator>Wulfert, M</creator><creator>Florensa Brichs, L</creator><creator>Jeromin, S</creator><creator>Lippert, E</creator><creator>Rozman, M</creator><creator>Lifermann, F</creator><creator>Grossmann, V</creator><creator>Haferlach, T</creator><creator>Germing, U</creator><creator>Luño, E</creator><creator>Girodon, F</creator><creator>Schnittger, S</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope></search><sort><creationdate>201309</creationdate><title>Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in refractory anaemia with ring sideroblasts and marked thrombocytosis</title><author>Broséus, J ; Alpermann, T ; Wulfert, M ; Florensa Brichs, L ; Jeromin, S ; Lippert, E ; Rozman, M ; Lifermann, F ; Grossmann, V ; Haferlach, T ; Germing, U ; Luño, E ; Girodon, F ; Schnittger, S</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p141t-f5b6093034fdeee75811b7385f3c36de12b8642611ae6bfbee600db6b8e87723</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2013</creationdate><topic>Adult</topic><topic>Age Factors</topic><topic>Aged</topic><topic>Aged, 80 and over</topic><topic>Anemia, Refractory - complications</topic><topic>Anemia, Refractory - diagnosis</topic><topic>Anemia, Refractory - genetics</topic><topic>Anemia, Refractory - mortality</topic><topic>Anemia, Sideroblastic - complications</topic><topic>Chromosome Mapping</topic><topic>Female</topic><topic>Humans</topic><topic>Janus Kinase 2 - genetics</topic><topic>Karyotype</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Mutation</topic><topic>Mutation Rate</topic><topic>Phosphoproteins - genetics</topic><topic>Prognosis</topic><topic>Ribonucleoprotein, U2 Small Nuclear - genetics</topic><topic>RNA Splicing Factors</topic><topic>Thrombocytosis - complications</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Broséus, J</creatorcontrib><creatorcontrib>Alpermann, T</creatorcontrib><creatorcontrib>Wulfert, M</creatorcontrib><creatorcontrib>Florensa Brichs, L</creatorcontrib><creatorcontrib>Jeromin, S</creatorcontrib><creatorcontrib>Lippert, E</creatorcontrib><creatorcontrib>Rozman, M</creatorcontrib><creatorcontrib>Lifermann, F</creatorcontrib><creatorcontrib>Grossmann, V</creatorcontrib><creatorcontrib>Haferlach, T</creatorcontrib><creatorcontrib>Germing, U</creatorcontrib><creatorcontrib>Luño, E</creatorcontrib><creatorcontrib>Girodon, F</creatorcontrib><creatorcontrib>Schnittger, S</creatorcontrib><creatorcontrib>MPN and MPNr-EuroNet (COST Action BM0902)</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><jtitle>Leukemia</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Broséus, J</au><au>Alpermann, T</au><au>Wulfert, M</au><au>Florensa Brichs, L</au><au>Jeromin, S</au><au>Lippert, E</au><au>Rozman, M</au><au>Lifermann, F</au><au>Grossmann, V</au><au>Haferlach, T</au><au>Germing, U</au><au>Luño, E</au><au>Girodon, F</au><au>Schnittger, S</au><aucorp>MPN and MPNr-EuroNet (COST Action BM0902)</aucorp><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in refractory anaemia with ring sideroblasts and marked thrombocytosis</atitle><jtitle>Leukemia</jtitle><addtitle>Leukemia</addtitle><date>2013-09</date><risdate>2013</risdate><volume>27</volume><issue>9</issue><spage>1826</spage><epage>1831</epage><pages>1826-1831</pages><eissn>1476-5551</eissn><abstract>Refractory anaemia with ring sideroblasts (RARS) and marked thrombocytosis (RARS-T) is a provisional entity in the World Health Organisation 2008 classification and has previously been shown to have a high proportion of JAK2(V617F) (Janus Kinase 2) and SF3B1 (Splicing Factor 3B subunit 1) mutations. The purpose of the present study was to analyse the frequency of SF3B1 mutations in a large cohort of 111 patients with RARS-T and 33 patients with RARS and to explore the prognostic impact of SF3B1 mutational status on RARS-T. The frequency of SF3B1 mutations in RARS-T (96/111, 86.5%) and RARS (28/33, 84.8%) was similar. In RARS-T, median survival was better in SF3B1-mutated patients than in SF3B1-non-mutated patients (6.9 and 3.3 years, respectively, P=0.003). RARS can be differentiated from RARS-T by the frequency of JAK2(V617F) (0% vs 48.6%). In RARS-T patients, SF3B1 (P=0.021) and JAK2 mutations (P=0.016) were independent factors for a better prognosis. Altogether, our results confirm that RARS-T is an independent entity that should be recognised by the next World Health Organisation classification. The assessment of SF3B1 mutations is of prognostic interest in RARS-T patients. Younger age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in RARS-T.</abstract><cop>England</cop><pmid>23594705</pmid><doi>10.1038/leu.2013.120</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Adult Age Factors Aged Aged, 80 and over Anemia, Refractory - complications Anemia, Refractory - diagnosis Anemia, Refractory - genetics Anemia, Refractory - mortality Anemia, Sideroblastic - complications Chromosome Mapping Female Humans Janus Kinase 2 - genetics Karyotype Male Middle Aged Mutation Mutation Rate Phosphoproteins - genetics Prognosis Ribonucleoprotein, U2 Small Nuclear - genetics RNA Splicing Factors Thrombocytosis - complications Young Adult |
| title | Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in refractory anaemia with ring sideroblasts and marked thrombocytosis |
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