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Frequency of JAK2V617F, MPL and CALR driver mutations and associated clinical characteristics in a Norwegian patient cohort with myeloproliferative neoplasms.
Lilleskare, Susanne; Vorland, Marta; Vo, Anh Khoi; Aarsand, Aasne K; Reikvam, Håkon.
Afiliação
  • Lilleskare S; Department of Medicine, Stavanger University Hospital, Stavanger, Norway.
  • Vorland M; Department of Cancer Genomics, Haukeland University Hospital, Bergen, Norway.
  • Vo AK; Department of Medicine, Haukeland University Hospital, Bergen, Norway.
  • Aarsand AK; Norwegian Porphyria Centre and Department of Medical Biochemistry and Pharmacology, Haukeland University Hospital, Bergen, Norway.
  • Reikvam H; Norwegian Organization for Quality Improvement of Laboratory Examinations, Haraldsplass Deaconess Hospital, Bergen, Norway.
Scand J Clin Lab Invest ; 83(1): 3-7, 2023 02.
Article em En | MEDLINE | ID: mdl-36476017
ABSTRACT
Myeloproliferative neoplasms are hematological disorders characterized by increased production in one or more myeloid cell lines, associated with driver mutations in JAK2-, MPL- and CALR-genes. The aims of this study were to investigate the prevalence of these driver mutations in a Norwegian patient cohort with myeloproliferative neoplasms, and to assess whether the different mutations were associated with different clinical presentation and natural history.Results from 820 patients in whom analysis for JAK2V617F-, CALR- and MPL had been performed at Haukeland University Hospital in the period 2014-2019 were retrieved and analyzed together with clinical variables related to diagnosis, hematological blood parameters and complications, obtained from patient records.We identified 182 cases of myeloproliferative neoplasms 78 with JAK2V617F, 28 with CALR-mutations, two with MPL-mutations and 23 cases without a driver mutation. There was a lower prevalence of JAK2V617F mutation than expected in the polycythemia vera group, likely related to overdiagnosis. In patients with essential thrombocytosis, we found significantly higher levels of hemoglobin and erythrocyte volume fraction for JAK2V617F-mutated disease, and significantly higher levels of platelets and lactate dehydrogenase for CALR-mutated disease. Patients with JAK2V617F-mutated primary myelofibrosis had significantly higher levels of hemoglobin, and there was an increased number of smokers or former smokers in this group compared to patients with CALR-mutations.Except for a lower prevalence of JAK2V617F-mutation in polycythemia vera, the mutational distribution in our patient cohort was similar to previous findings in other populations. The novel finding of a higher prevalence of smokers in JAK2V617F-mutated primary myelofibrosis warrants further investigation.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Calreticulina / Janus Quinase 2 / Receptores de Trombopoetina / Transtornos Mieloproliferativos Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Scand J Clin Lab Invest Ano de publicação: 2023 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Calreticulina / Janus Quinase 2 / Receptores de Trombopoetina / Transtornos Mieloproliferativos Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Scand J Clin Lab Invest Ano de publicação: 2023 Tipo de documento: Article