1. Clonal Megakaryocyte Dysplasia with Isolated Thrombocytosis Is a Distinct Myeloproliferative Neoplasm Phenotype.
- Author
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Barosi G, Campanelli R, Massa M, Catarsi P, Carolei A, Abbà C, Villani L, Magrini U, Gregato G, Bertolini F, de Silvestri A, Gale RP, and Rosti V
- Subjects
- Female, Humans, Megakaryocytes, Mutation, Phenotype, Janus Kinase 2 genetics, Calreticulin genetics, Primary Myelofibrosis diagnosis, Primary Myelofibrosis genetics, Thrombocythemia, Essential diagnosis, Thrombocythemia, Essential genetics, Neoplasms, Myeloproliferative Disorders diagnosis, Myeloproliferative Disorders genetics, Thrombocytosis genetics
- Abstract
Introduction: About 15% of people with a myeloproliferative neoplasm (MPN) are identified as MPN, unclassifiable using the 2016 WHO classification., Methods: We tested whether persons with platelet concentration ≥450 × 10E+9/L, bone marrow megakaryocyte morphology typical of prefibrotic/early myelofibrosis (pre-MF), and no minor criteria of pre-MF should be classified as a distinct MPN subtype, clonal megakaryocyte dysplasia with isolated thrombocytosis (CMD-IT)., Results: 139 subjects meet these criteria who we compared with primary myelofibrosis (PMF) including 402 with pre-MF and 521 with overt myelofibrosis. CMD-IT subjects were more likely female and younger. They had lower frequencies of JAK2V617F compared with persons with PMF (55% vs. 70%; p < 0.001) and higher frequencies of CALR mutations (37% vs. 17%; p < 0.001). They also had lower frequency of variations associated with JAK2V617F susceptibility, JAK2 46/1 (35% vs. 47%; p = 0.021), and VEGFA rs3025039 (12% vs. 17%; p = 0.030). Subjects with CMD-IT had lower incidences of thrombotic events compared with those with pre-MF (9.7% vs. 26%; p < 0.001) and longer survival (median, not reached vs. 23 years; HR = 0.34 (0.10, 0.30); p < 0.001)., Conclusion: Our data indicate CMD-IT is a distinct MPN subtype and should be included in the classification of myeloid neoplasms., (© 2022 S. Karger AG, Basel.)
- Published
- 2023
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