Analysis of phenotype and outcome in essential thrombocythemia with CALR or JAK2 mutations
| Autor: | Thomas Tousseyn, Peter Vandenberghe, Petros Papadopoulos, Carla Al Assaf, Jan Emmerechts, Pascale De Paepe, Lucienne Michaux, Els Lierman, Carlos Graux, Anne-Sophie Hervent, Timothy Devos, Florence Van Obbergh, Johan Billiet |
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| Jazyk: | angličtina |
| Rok vydání: | 2015 |
| Předmět: |
Oncology
Adult Male medicine.medical_specialty Myeloid DNA Mutational Analysis Leukocyte Count Sex Factors Internal medicine hemic and lymphatic diseases medicine Humans Myelofibrosis Survival analysis Aged Retrospective Studies Thrombopoietin receptor Aged 80 and over Janus kinase 2 biology Essential thrombocythemia business.industry Platelet Count Age Factors Retrospective cohort study Hematology Articles Janus Kinase 2 Middle Aged medicine.disease Survival Analysis Leukemia Myeloid Acute medicine.anatomical_structure Phenotype Primary Myelofibrosis Immunology Mutation biology.protein Disease Progression Female business Calreticulin Receptors Thrombopoietin Thrombocythemia Essential |
| Popis: | The JAK2 V617F mutation, the thrombopoietin receptor MPL W515K/L mutation and the Calreticulin (CALR) mutations are mutually exclusive in essential thrombocythemia and support a novel molecular categorization of essential thrombocythemia. CALR mutations account for approximately 30 % of essential thrombocythemia cases. In a retrospective study, we have examined the frequency of MPL and CALR mutations in JAK2 V617F negative essential thrombocythemia (n=103). In addition, we compared the clinical phenotype and outcome of CALR mutant essential thrombocythemia with a cohort of JAK2 V617F positive essential thrombocythemia (n=57). CALR positive cases represented 63.7% of double negative essential thrombocythemia, and most carried CALR Type 1 or Type 2 indels. However, we also identified one patient, who was positive for both the JAK2 V617F and the CALR mutations. This study revealed that CALR mutant essential thrombocythemia is associated with younger age, higher platelet counts, lower erythrocyte counts, lower leukocyte counts, hemoglobin, hematocrit, and increased risk of progression to myelofibrosis in comparison with JAK2 V617F positive essential thrombocythemia. Analysis of the CALR mutant group according to indel type showed that CALR Type 1 deletion is strongly associated with male gender. CALR mutant patients had a better overall survival than JAK2 V617F positive patients, in particular patients of age 60 years or younger. In conclusion, this study on a Belgian cohort supports and extends the growing body of evidence that CALR mutant is phenotypically distinct from JAK2 V617F positive essential thrombocythemia, with regard to its clinical and hematological presentation as well as the overall survival. ispartof: Haematologica vol:100 issue:7 pages:893-7 ispartof: location:Italy status: published |
| Databáze: | OpenAIRE |
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