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Article

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

International journal of laboratory hematology - 1 Apr 2026

Salvadores-Álvarez Victoria, Molinos-Quintana Águeda, Morales-Camacho Rosario M, Martín-Chacón Eusebio, Reinoso Segura Marta, Vargas M Teresa, Carrillo-Cruz Estrella, Soria-Saldise Elena, Prats-Martín Concepción

Abstract excerpt

CBL syndrome is caused by a heterozygous germline mutation in the CBL gene. It is a rare RASopathy that shares many clinical features with mild forms of Noonan syndrome. These patients have a higher risk of developing juvenile myelomonocytic leukaemia (JMML) during early childhood. Here we report a case of an 11-month-old infant with JMML and CBL syndrome. It was caused by a heterozygous de novo germline mutation...

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Share to Chromosomes, Human, Pair 11
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Leukemia, Myelomonocytic, Juvenile

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Identifiers

PMID: 41466533
DOI: 10.1111/ijlh.70055

Genes

CBL

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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