ArticleHaematologica2022
Molecular and phenotypic diversity of CBL-mutated juvenile myelomonocytic leukemia.
Article in Haematologica, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 45 citations in OpenAlex.
- Trial
- Clinical Phenotype, Molecular Architecture, and Survival Follow-Up in NRAS- and KRAS-Mutated Juvenile Myelomonocytic Leukemia.Cancers · 2026Article
- Review
- FBXO22 targets ubiquitination and degradation of c-Cbl in leukemia.Scientific reports · 2026Article
- Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).European journal of human genetics : EJHG · 2025Article
- Clinical and molecular characterization of patients with juvenile myelomonocytic leukaemia.British journal of haematology · 2025Article
- Azacytidine Monotherapy in an Infant With Mosaic NRAS-Driven Juvenile Myelomonocytic Leukemia.Pediatric blood & cancer · 2025Article
- Article
- Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant.American journal of medical genetics. Part A · 2024Article
- Review
- Chronic myeloproliferative neoplasm in adulthood in CBL syndrome harboring a splice-siteEJHaem · 2024Article
- Phenotypic profiling of CD34Haematologica · 2024Article
- Too many white cells-TAM, JMML, or something else?Hematology. American Society of Hematology. Education Program · 2023Article
- Clinical and molecular features ofHaematologica · 2023Article
- Potential value of high-throughput single-cell DNA sequencing of Juvenile myelomonocytic leukemia: report of two cases.NPJ systems biology and applications · 2023Article
- Potential clinical use of azacitidine and MEK inhibitor combination therapy in PTPN11-mutated juvenile myelomonocytic leukemia.Molecular therapy : the journal of the American Society of Gene Therapy · 2023Article
- Juvenile myelomonocytic leukemia; moving forward.Leukemia · 2023Article
- Genetic Predisposition to Hematologic Malignancies in Childhood and Adolescence.Mediterranean journal of hematology and infectious diseases · 2023Review
- Cancer incidence and surveillance strategies in individuals with RASopathies.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Review
- EAHP 2020 workshop proceedings, pediatric myeloid neoplasms.Virchows Archiv : an international journal of pathology · 2022Article
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Authors and funding
29 authors at 20 institutions in 3 countries.
Funding
Abstract
Mutations in the gene CBL were first identified in adults with various myeloid malignancies. Some patients with juvenile myelomonocytic leukemia (JMML) were also noted to harbor mutations in CBL, but were found to have generally less aggressive disease courses compared to other forms of Ras pathway-mutant JMML. Importantly, and in contrast to most reports in adults, the majority of CBL mutations in JMML patients are germline with acquired uniparental disomy occurring in affected marrow cells. Here, we systematically studied a large cohort of 33 JMML patients with CBL mutations and found this disease to be highly diverse in presentation and overall outcome. Moreover, we discovered somatically-acquired CBL mutations in 15% of pediatric patients who presented with more aggressive disease. Neither clinical features nor methylation profiling were able to distinguish somatic CBL patients from germline CBL patients, highlighting the need for germline testing. Overall, we demonstrate that disease courses are quite heterogeneous even among germline CBL patients. Prospective clinical trials are warranted to find ideal treatment strategies for this diverse cohort of patients.
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