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Article

Spectrum of molecular defects in juvenile myelomonocytic leukaemia includes ASXL1 mutations.

British journal of haematology - 1 Jul 2010

Sugimoto Yuka, Muramatsu Hideki, Makishima Hideki, Prince Courtney, Jankowska Anna M, Yoshida Nao, Xu Yinyan, Nishio Nobuhiro, Hama Asahito, Yagasaki Hiroshi, Takahashi Yoshiyuki, Kato Koji, Manabe Atsushi, Kojima Seiji, Maciejewski Jaroslaw P

Abstract excerpt

Mutations in NF1, PTPN11, NRAS, KRAS and CBL have been reported to play a pathogenetic role in juvenile myelomonocytic leukaemia (JMML), a rare myelodyplastic/myeloproliferative neoplasm occurring in children. Recently, mutations in ASXL1 were identified in chronic myelomonocytic leukaemia and other myeloid malignancies. We sequenced exon 12 of ASLX1 in 49 JMML patients, and found 2 novel heterozygous (nonsense...

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Source

Identifiers

PMID: 20408841
DOI: 10.1111/j.1365-2141.2010.08196.x

Genes

ASXL1
PTPN11
CBL
KRAS
NRAS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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