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Quantitative assessment of JAK2 V617F and CALR mutations in Philadelphia negative myeloproliferative neoplasms.
Gángó, Ambrus; Mózes, Réka; Boha, Zsófia; Kajtár, Béla; Timár, Botond; Király, Péter Attila; Kiss, Richárd; Fésüs, Viktória; Nagy, Noémi; Demeter, Judit; Körösmezey, Gábor; Borbényi, Zita; Marton, Imelda; Szoke, Anita; Masszi, Tamás; Farkas, Péter; Várkonyi, Judit; Plander, Márk; Pósfai, Éva; Egyed, Miklós; Pál, Katalin; Radványi, Gáspár; Hamed, Aryan; Csomor, Judit; Matolcsy, András; Alpár, Donát; Bödör, Csaba.
Afiliación
  • Gángó A; MTA-SE Lendület Molecular Oncohematology Research Group, 1st Department of Pathology and Experimental Cancer Research, Semmelweis University, Budapest, Hungary.
  • Mózes R; MTA-SE Lendület Molecular Oncohematology Research Group, 1st Department of Pathology and Experimental Cancer Research, Semmelweis University, Budapest, Hungary.
  • Boha Z; MTA-SE Lendület Molecular Oncohematology Research Group, 1st Department of Pathology and Experimental Cancer Research, Semmelweis University, Budapest, Hungary.
  • Kajtár B; Department of Pathology, University of Pécs, Pécs, Hungary.
  • Timár B; MTA-SE Lendület Molecular Oncohematology Research Group, 1st Department of Pathology and Experimental Cancer Research, Semmelweis University, Budapest, Hungary.
  • Király PA; MTA-SE Lendület Molecular Oncohematology Research Group, 1st Department of Pathology and Experimental Cancer Research, Semmelweis University, Budapest, Hungary; 1st Department of Internal Medicine, Semmelweis University, Budapest, Hungary.
  • Kiss R; MTA-SE Lendület Molecular Oncohematology Research Group, 1st Department of Pathology and Experimental Cancer Research, Semmelweis University, Budapest, Hungary.
  • Fésüs V; MTA-SE Lendület Molecular Oncohematology Research Group, 1st Department of Pathology and Experimental Cancer Research, Semmelweis University, Budapest, Hungary.
  • Nagy N; MTA-SE Lendület Molecular Oncohematology Research Group, 1st Department of Pathology and Experimental Cancer Research, Semmelweis University, Budapest, Hungary.
  • Demeter J; 1st Department of Internal Medicine, Semmelweis University, Budapest, Hungary.
  • Körösmezey G; 1st Department of Internal Medicine, Semmelweis University, Budapest, Hungary.
  • Borbényi Z; 2nd Department of Internal Medicine and Cardiology Center, University of Szeged, Szeged, Hungary.
  • Marton I; 2nd Department of Internal Medicine and Cardiology Center, University of Szeged, Szeged, Hungary.
  • Szoke A; 2nd Department of Internal Medicine and Cardiology Center, University of Szeged, Szeged, Hungary.
  • Masszi T; 3rd Department of Internal Medicine, Semmelweis University, Budapest, Hungary.
  • Farkas P; 3rd Department of Internal Medicine, Semmelweis University, Budapest, Hungary.
  • Várkonyi J; 3rd Department of Internal Medicine, Semmelweis University, Budapest, Hungary.
  • Plander M; Markusovszky Teaching Hospital, Szombathely, Hungary.
  • Pósfai É; 2nd Department of Internal Medicine and Cardiology Center, University of Szeged, Szeged, Hungary.
  • Egyed M; Mór Kaposi Teaching Hospital of County Somogy, Kaposvár, Hungary.
  • Pál K; Szent György Teaching Hospital of County Fejér, Székesfehérvár, Hungary.
  • Radványi G; Teaching Hospital of County Borsod-Abaúj-Zemplén, Miskolc, Hungary.
  • Hamed A; Aladár Petz Teaching Hospital, Gyor, Hungary.
  • Csomor J; MTA-SE Lendület Molecular Oncohematology Research Group, 1st Department of Pathology and Experimental Cancer Research, Semmelweis University, Budapest, Hungary.
  • Matolcsy A; MTA-SE Lendület Molecular Oncohematology Research Group, 1st Department of Pathology and Experimental Cancer Research, Semmelweis University, Budapest, Hungary.
  • Alpár D; MTA-SE Lendület Molecular Oncohematology Research Group, 1st Department of Pathology and Experimental Cancer Research, Semmelweis University, Budapest, Hungary.
  • Bödör C; MTA-SE Lendület Molecular Oncohematology Research Group, 1st Department of Pathology and Experimental Cancer Research, Semmelweis University, Budapest, Hungary. Electronic address: bodor.csaba1@med.semmelweis-univ.hu.
Leuk Res ; 65: 42-48, 2018 02.
Article en En | MEDLINE | ID: mdl-29306106
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 CALRmut load exceeding the median value exhibited lower hemoglobin values (12.0 vs. 13.6 g/dL), higher LDH levels (510 vs. 351 IU/L) and higher rate of myelofibrotic transformation (19% vs. 5%). The CALRmut 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 JAK2mut load in MPNs; in addition, unravels a novel clinical association between high CALRmut load and a more proliferative phenotype in ET.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Cromosoma Filadelfia / Calreticulina / Janus Quinasa 2 / Mielofibrosis Primaria / Trombocitemia Esencial / Mutación Tipo de estudio: Clinical_trials Límite: Adolescent / Adult / Aged / Aged80 / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Leuk Res Año: 2018 Tipo del documento: Article País de afiliación: Hungria Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Cromosoma Filadelfia / Calreticulina / Janus Quinasa 2 / Mielofibrosis Primaria / Trombocitemia Esencial / Mutación Tipo de estudio: Clinical_trials Límite: Adolescent / Adult / Aged / Aged80 / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Leuk Res Año: 2018 Tipo del documento: Article País de afiliación: Hungria Pais de publicación: Reino Unido