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Article

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

Journal of human genetics - 1 Jun 2016

Muraoka Michiko, Okuma Chiho, Kanamitsu Kiichiro, Ishida Hisashi, Kanazawa Yui, Washio Kana, Seki Masafumi, Kato Motohiro, Takita Junko, Sato Yusuke, Ogawa Seishi, Tsukahara Hirokazu, Oda Megumi, Shimada Akira

Abstract excerpt

Juvenile myelomonocytic leukemia (JMML) appears to be a life-threatening disease and showed poor prognosis even after hematopoietic stem cell transplantation (HSCT) because of high relapse rate. On the other hand, recent molecular analysis revealed the heterogeneity of JMML. Here we report that two JMML patients survived >20 years without HSCT and both patients had uniparental disomy of 11q23 where CBL is located...

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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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Source

Identifiers

PMID: 26911351
DOI: 10.1038/jhg.2016.8

Genes

CBL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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