Clonal megakaryocyte dysplasia with normal blood values: a covert, thrombosis-prone, early myeloproliferative neoplasm
Year: 2025
Type: article
Study design: Observational Study
Abstract: To improve our knowledge on the epidemiological, clinical and pathobiological profile of clonal megakaryocyte dysplasia with normal blood values (CMD-NBV), a BCR::ABL-negative myeloproliferative neoplasms clinical variant, we here report a series of 30 consecutive subjects with CMD-NBV. Sixteen subjects were men and the median age was 48 years (interquartile range [IQR], 39-53 years). A situation-driven diagnosis (70% of cases had the diagnosis triggered by an incidental or symptomatic venous or arterial thrombosis), high incidence of thrombotic events (6.5 events x 100 subject-years), and indolent disease (the 10-year CMD-NBV-specific survival was 100%) were common. Nineteen subjects had a high body mass index at diagnosis and 14 had ≥1 Charlson co-morbidities. In 21 the driver variant was JAK2V617F with a median variant allele frequency at diagnosis of 8.9% (IQR, 5.4-18.4%). Six of 24 (25%) subjects with data on next-generation sequencing for myeloid neoplasm-related genes had ≥1 pathogenic somatic variant in ASXL1, TET2, DNMT3A or SRSF2, a frequency in the lower range of values of chronic myeloproliferative neoplasms. Twelve putative germline, non-pathogenic, missense variants in ASXL1, TET2, DNMT3A, RUNX1, CUX1, ABL1, NF1, KIT and CSF3R or 5' UTR in NF1 and 3' UTR in ASXL1 were detected in ten of 24 (42%) subjects. These data further support identification of CMD-NBV as a distinct entity.
Source: Haematologica
Authors: Giovanni Barosi, Vittorio Rosti, Rita Campanelli, Margherita Massa, Carlotta Abbà, Adriana Carolei, Paolo Catarsi, Alessandro Inzoli, Lorena Pergola, Tiziano Barbui, Caterina Tatarelli, Maria Chiara Finazzi, Annalisa Condorelli, Silvia Salmoiraghi, Alessandro Rambaldi, Andrea Gianatti, Valerio De Stefano, Anna Gallì, Martina Gandossini, Michela Bardelli, Robert Peter Gale, Luca Malcovati
Institutions: Policlinico San Matteo Fondazione, Istituti di Ricovero e Cura a Carattere Scientifico, Azienda Ospedaliera Ospedale Maggiore, FROM – Fondazione per la Ricerca Ospedale di Bergamo ETS, Azienda Ospedaliera Sant'Andrea, University of Milan, Ospedale Papa Giovanni XXIII, Agostino Gemelli University Polyclinic, University of Pavia, Imperial College London
Language: English
Subfield: Genetics
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $2,157
Award: G1165031887
OpenAlex ID: W4416398171
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