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Spectrum of molecular defects in juvenile myelomonocytic leukaemia includes ASXL1 mutations
Author(s) -
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.
Publication year - 2010
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.2010.08196.x
Subject(s) - juvenile myelomonocytic leukemia , frameshift mutation , neuroblastoma ras viral oncogene homolog , ptpn11 , cancer research , kras , mutation , nonsense mutation , myeloproliferative neoplasm , myeloid , exon , biology , medicine , genetics , myelofibrosis , missense mutation , immunology , gene , haematopoiesis , bone marrow , stem cell
Summary 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 and frameshift) mutations, one occurring as a sole lesion, the other was in conjunction with a PTPN11 mutation. ASXL1 cooperates with KDM1A in transcriptional repression and thereby ASXL1 mutations may synergize with or mimic other JMML‐related mutations.
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