TY - JOUR
T1 - Spectrum of molecular defects in juvenile myelomonocytic leukaemia includes ASXL1 mutations
T2 - Short report
AU - Sugimoto, Yuka
AU - Muramatsu, Hideki
AU - Makishima, Hideki
AU - Prince, Courtney
AU - Jankowska, Anna M.
AU - Yoshida, Nao
AU - Xu, Yinyan
AU - Nishio, Nobuhiro
AU - Hama, Asahito
AU - Yagasaki, Hiroshi
AU - Takahashi, Yoshiyuki
AU - Kato, Koji
AU - Manabe, Atsushi
AU - Kojima, Seiji
AU - MacIejewski, Jaroslaw P.
PY - 2010/7
Y1 - 2010/7
N2 - 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.
AB - 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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U2 - 10.1111/j.1365-2141.2010.08196.x
DO - 10.1111/j.1365-2141.2010.08196.x
M3 - Article
C2 - 20408841
AN - SCOPUS:77953485589
SN - 0007-1048
VL - 150
SP - 83
EP - 87
JO - British Journal of Haematology
JF - British Journal of Haematology
IS - 1
ER -