Activating CBL mutations are associated with a distinct MDS/MPN phenotype
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ID: 120375
2012
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Abstract
Activating point mutations in CBL have recently been identified in diverse subtypes of myeloid neoplasms. Because detailed clinical and hematological characteristics of CBL-mutated cases is lacking, we screened 156 BCR-ABL and JAK2 V617F negative patients with myeloproliferative neoplasms (MPN) and overlap syndromes between myelodysplastic syndrome (MDS) and MPN (MPS/MPN) for mutations in exons 8 and 9 of CBL by denaturing high-performance liquid chromatography and direct sequencing. CBL mutations were identified in 16/156 patients (10 %), of which five also carried mutations in EZH2 (n = 3) and TET2 (n = 2). Comprehensive clinical and hematological characteristics were available from 13/16 patients (81 %). In addition to splenomegaly (77 %), striking common hematological features were CML-like left-shifted leukocytosis (85 %) with monocytosis (85 %), anemia (100 %), and thrombocytopenia (62 %). Thrombocytosis was not observed in any patient. Relevant bone marrow features (n = 12) included hypercellularity (92 %) with marked granulopoiesis (92 %), nonclustered microlobulated megakaryocytes (83 %), and marrow fibrosis (83 %). Nine deaths (progression to secondary acute myeloid leukemia/blast phase, n = 7; cytopenia complications, n = 2) were recorded. Three-year survival rate was 27 %, possibly indicating poor prognosis of CBL mutated MDS/MPN patients.
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schwaab2012annalsactivating
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| Authors | Juliana Schwaab;Thomas Ernst;Philipp Erben;Jenny Rinke;Susanne Schnittger;Philipp Ströbel;Georgia Metzgeroth;Max Mossner;Torsten Haferlach;Nicholas C. P. Cross;Andreas Hochhaus;Wolf-Karsten Hofmann;Andreas Reiter;Juliana Schwaab;Thomas Ernst;Philipp Erben;Jenny Rinke;Susanne Schnittger;Philipp Ströbel;Georgia Metzgeroth;Max Mossner;Torsten Haferlach;Nicholas C. P. Cross;Andreas Hochhaus;Wolf-Karsten Hofmann;Andreas Reiter; |
| Journal | Annals of hematology |
| Year | 2012 |
| DOI |
doi:10.1007/s00277-012-1521-3
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