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dc.contributor.author Gángó, Ambrus
dc.contributor.author Mózes, Réka
dc.contributor.author Boha Z
dc.contributor.author Kajtár, Béla
dc.contributor.author Tímár, Botond
dc.contributor.author Király, Péter Attila
dc.contributor.author Kiss, Richárd
dc.contributor.author Fesus V
dc.contributor.author Nagy, Noémi
dc.contributor.author Demeter, Judit
dc.contributor.author Korosmezey G
dc.contributor.author Borbényi, Zita
dc.contributor.author Marton, Imelda
dc.contributor.author Szoke A
dc.contributor.author Masszi, Tamás
dc.contributor.author Farkas, Péter
dc.contributor.author Várkonyi, Judit
dc.contributor.author Plander M
dc.contributor.author Posfai E
dc.contributor.author Egyed, Miklós
dc.contributor.author Pal K
dc.contributor.author Radvanyi G
dc.contributor.author Hamed A
dc.contributor.author Csomor, Judit
dc.contributor.author Matolcsy, András
dc.contributor.author Alpár, Donát
dc.contributor.author Bödör, Csaba
dc.date.accessioned 2018-10-17T07:29:34Z
dc.date.available 2018-10-17T07:29:34Z
dc.date.issued 2018
dc.identifier 85039962524
dc.identifier.citation pagination=42-48; journalVolume=65; journalTitle=LEUKEMIA RESEARCH;
dc.identifier.uri http://repo.lib.semmelweis.hu//handle/123456789/6316
dc.identifier.uri doi:10.1016/j.leukres.2017.12.005
dc.description.abstract BACKGROUND: Philadelphia negative myeloproliferative neoplasms (MPNs) are characterized by frequent mutations of driver genes including JAK2, CALR and MPL. While the influence of JAK2 V617F mutant allele burden on the clinical phenotype of MPN patients is well-described, the impact of CALR mutant allele burden on clinical features needs further investigation. PATIENTS AND METHODS: Quantitative assessment of JAK2 and CALR mutations was performed on diagnostic DNA samples from 425 essential thrombocythemia (ET) and 227 primary myelofibrosis patients using real-time quantitative PCR and fragment length analysis. Characterization of CALR mutations and detection of MPL mutations were performed by Sanger sequencing. RESULTS: Twelve novel CALR mutations have been identified. ET patients with CALR(mut) load exceeding the median value exhibited lower hemoglobin values (12.0 vs. 13.6g/dL), higher LDH levels (510 vs. 351 IU/L) and higher rate of myelofibrotic transformation (19% vs. 5%). The CALR(mut) load was higher among ET patients presenting with splenomegaly compared to those without splenomegaly (50.0% vs. 43.5%). CONCLUSION: Our study confirms the clinical significance of driver mutational status and JAK2(mut) load in MPNs; in addition, unravels a novel clinical association between high CALR(mut) load and a more proliferative phenotype in ET.
dc.relation.ispartof urn:issn:0145-2126
dc.title Quantitative assessment of JAK2 V617F and CALR mutations in Philadelphia negative myeloproliferative neoplasms.
dc.type Journal Article
dc.date.updated 2018-09-01T10:30:54Z
dc.language.rfc3066 en
dc.identifier.mtmt 3312155
dc.identifier.wos 000425507100008
dc.identifier.pubmed 29306106
dc.contributor.department SE/AOK/K/III. Sz. Belgyógyászati Klinika
dc.contributor.department SE/AOK/K/II. Sz. Belgyógyászati Klinika
dc.contributor.department SE/AOK/K/I. Sz. Belgyógyászati Klinika
dc.contributor.department SE/AOK/I/I. Sz. Patológiai és Kísérleti Rákkutató Intézet
dc.contributor.institution Semmelweis Egyetem


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