Activating CBL mutations are associated with a distinct MDS/MPN phenotype
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...
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| Main Authors: | , , , , , , |
|---|---|
| Format: | Article (Journal) |
| Language: | English |
| Published: |
10 August 2012
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| In: |
Annals of hematology
Year: 2012, Volume: 91, Issue: 11, Pages: 1713-1720 |
| ISSN: | 1432-0584 |
| DOI: | 10.1007/s00277-012-1521-3 |
| Online Access: | Verlag, Volltext: http://dx.doi.org/10.1007/s00277-012-1521-3 Verlag, Volltext: https://link.springer.com/article/10.1007/s00277-012-1521-3 
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| Author Notes: | 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 |
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| 520 | |a 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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