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Article

Mutations of an E3 ubiquitin ligase c-Cbl but not TET2 mutations are pathogenic in juvenile myelomonocytic leukemia.

Blood - 11 Mar 2010

Muramatsu Hideki, Makishima Hideki, Jankowska Anna M, Cazzolli Heather, O'Keefe Christine, Yoshida Nao, Xu Yinyan, Nishio Nobuhiro, Hama Asahito, Yagasaki Hiroshi, Takahashi Yoshiyuki, Kato Koji, Manabe Atsushi, Kojima Seiji, Maciejewski Jaroslaw P

Abstract excerpt

Juvenile myelomonocytic leukemia (JMML) is a rare pediatric myeloid neoplasm characterized by excessive proliferation of myelomonocytic cells. When we investigated the presence of recurrent molecular lesions in a cohort of 49 children with JMML, neurofibromatosis phenotype (and thereby NF1 mutati...

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Source

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Identifiers

PMID: 20008299
DOI: 10.1182/blood-2009-06-226340
PMCID: PMC2837338

Genes

PTPN11
TET2
KRAS
NRAS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20008299-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Mutations of an E3 ubiquitin ligase c-Cbl but not TET2 mutations are pathogenic in juvenile myelomonocytic leukemia.PMID 20008299Read ↗

Mutations in CBL occur frequently in juvenile myelomonocytic leukemia.Semantic proximity Read ↗

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

CBL mutations in chronic myelomonocytic leukemia often occur in the RING domain with multiple subclones per patient: Implications for targeting.Semantic proximity Read ↗

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

The genomic landscape of juvenile myelomonocytic leukemia.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 ↗

Somatic mosaicism for oncogenic NRAS mutations in juvenile myelomonocytic leukemia.Semantic proximity Read ↗

Mutations of e3 ubiquitin ligase cbl family members constitute a novel common pathogenic lesion in myeloid malignancies.Semantic proximity Read ↗

Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia.Semantic proximity Read ↗

Juvenile myelomonocytic leukemia displays mutations in components of the RAS pathway and the PRC2 network.Semantic proximity Read ↗

Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia.Semantic proximity Read ↗

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