ArticleHaematologica2012
Use of CBL exon 8 and 9 mutations in diagnosis of myeloproliferative neoplasms and myelodysplastic/myeloproliferative disorders: an analysis of 636 cases.
Article in Haematologica, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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18 citing papers in PubMed, 30 citations in OpenAlex.
- Gilteritinib Affects the Selection of Dominant Clones in Clonal Hematopoiesis: Sequential Genetic Analysis of anOncoTargets and therapy · 2023Article
- Genetic Background of Polycythemia Vera.Genes · 2022Review
- KMT2A-CBL rearrangements in acute leukemias: clinical characteristics and genetic breakpoints.Blood advances · 2021Article
- Management and Outcomes of Blast Transformed Chronic Myelomonocytic Leukemia.Current hematologic malignancy reports · 2021Review
- Mutations in chronic myelomonocytic leukemia and their prognostic relevance.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2021Review
- Genomic Landscape and Risk Stratification in Chronic Myelomonocytic Leukemia.Current hematologic malignancy reports · 2021Review
- UBASH3B/Sts-1-CBL axis regulates myeloid proliferation in human preleukemia induced by AML1-ETO.Leukemia · 2016Article
- Cytogenetic and molecular abnormalities in chronic myelomonocytic leukemia.Blood cancer journal · 2016Review
- A point mutation of zebrafish c-cbl gene in the ring finger domain produces a phenotype mimicking human myeloproliferative disease.Leukemia · 2015Article
- Mutations of c-Cbl in myeloid malignancies.Oncotarget · 2015Review
- Article
- Dendritic cells derived from pluripotent stem cells: Potential of large scale production.World journal of stem cells · 2014Review
- Article
- Molecular genetics of myelofibrosis and its associated disease phenotypes.Translational medicine @ UniSa · 2014Article
- Article
- JAK2 V617F genotype is a strong determinant of blast transformation in primary myelofibrosis.PloS one · 2013Article
- Protein tyrosine kinase regulation by ubiquitination: critical roles of Cbl-family ubiquitin ligases.Biochimica et biophysica acta · 2013Review
- Myeloid neoplasias: what molecular analyses are telling us.ISRN oncology · 2012Article
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Authors and funding
13 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We analyzed 636 patients with diverse myeloproliferative neoplasms or myelodysplastic/myeloproliferative neoplasms for mutations of the Casitas B-cell lymphoma gene (CBL(mut)) in exons 8 and 9 and performed correlations to other genetic alterations. CBL(mut) were detected in 63 of 636 (9.9%) of these selected patients. CBL(mut) were more frequent in myelodysplastic/myeloproliferative neoplasms than myeloproliferative neoplasms (51 of 328, 15.5% vs. 12 of 291, 4.1%; P<0.001). Frequency was 48 of 278 (17.3%) in chronic myelomonocytic leukemia and 3 of 33 (9.1%) in unclassifiable myelodysplastic/myeloproliferative neoplasms. CBL(mut) was not detected in polycythemia vera, primary myelofibrosis, essential thrombocythemia, or refractory anemia with ring sideroblasts and marked thrombocytosis. CBL(mut) were underrepresented in JAK2(V617F) mutated as compared to JAK2V617(wt) cases (P<0.001), and mutually exclusive of JAK2exon12(mut) and MPLW515(mut). CBL(mut) were associated with monosomy 7 (P=0.008) and TET2(mut) (P=0.003). In chronic myelomonocytic leukemia, CBL(mut) had no significant impact on survival outcomes. Therefore, CBL(mut) are frequent in chronic myelomonocytic leukemia, absent in classical myeloproliferative neoplasms, and are only exceptionally found in coincidence with JAK-STAT pathway activating mutations.
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