Article

Clinical Management of Three JMML Siblings with Germline CBL Variation

2024-08-27

Abstract excerpt

Germline pathogenic variants (PVs) in CBL is found in 15% of juvenile myelomonocytic leukemia (JMML) cases. Here we report siblings with CBL variations presenting a heterogenous JMML clinic and outcome. The index case was diagnosed at the age of seven, whereas the younger brother was 10 months old and the youngest was one month old. The hematopoietic stem cell transplantation was successful for the index and the...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 7cee1bd6-3e70-51ad-8866-909c4254f538
DOI: 10.22541/au.172479946.69198940/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Clinical Management of Three JMML Siblings with Germline CBL VariationDOI 10.22541/au.172479946.69198940/v1Read

Molecular and phenotypic diversity of CBL-mutated juvenile myelomonocytic leukemia.Semantic proximity Read

Adults with germline CBL mutation complicated with juvenile myelomonocytic leukemia at infancy.Semantic proximity Read

Morphologic and Immunophenotypic Differences in Juvenile Myelomonocytic Leukemias With CBL and Other Canonical RAS-pathway Gene Mutations: A Single Institutional Experience.Semantic proximity Read

Recent advances in the pathogenesis and treatment of juvenile myelomonocytic leukaemiaSemantic proximity Read

CBL mutations in juvenile myelomonocytic leukemia and pediatric myelodysplastic syndromeSemantic proximity Read

A child with juvenile myelomonocytic leukemia possessing a concurrent germline CBL mutation and a NF1 variant of uncertain significance: A rare case with a common problem in the era of high-throughput sequencing.Semantic proximity Read

Genetic typing of CBL, ASXL1, RUNX1, TET2 and JAK2 in juvenile myelomonocytic leukaemia reveals a genetic profile distinct from chronic myelomonocytic leukaemia.Semantic proximity Read

Juvenile myelomonocytic leukemia: who’s the driver at the wheel?Semantic proximity Read

[Juvenile myelomonocytic leukemias].Semantic proximity Read

Juvenile myelomonocytic leukemia: epidemiology, etiopathogenesis, diagnosis, and management considerations.Semantic proximity Read

CBL-Mutated Juvenile Myelomonocytic Leukaemia With Loss of Heterozygosity on 11q Detected by Microarray: Not Always Such a Favourable Outcome.Semantic proximity Read

Molecular basis of juvenile myelomonocytic leukemiaSemantic proximity Read