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首页> 外文期刊>British Journal of Haematology >Spectrum of molecular defects in juvenile myelomonocytic leukaemia includes ASXL1 mutations
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Spectrum of molecular defects in juvenile myelomonocytic leukaemia includes ASXL1 mutations

机译：青少年骨髓单核细胞白血病的分子缺陷谱包括ASXL1突变

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摘要

SummaryMutations 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.
机译：总结据报道，NF1，PTPN11，NRAS，KRAS和CBL的突变在青少年骨髓单核细胞白血病（JMML）中起着致病作用，这是一种罕见的儿童骨髓增生异常/骨髓增生性肿瘤。最近，在慢性粒细胞单核细胞白血病和其他髓样恶性肿瘤中发现了ASXL1的突变。我们对49名JMML患者的ASLX1外显子12进行了测序，发现了2个新的杂合（无意义和移码）突变，一个突变为单一病变，另一个与PTPN11突变结合。 ASXL1在转录抑制方面与KDM1A合作，因此ASXL1突变可与其他JMML相关突变协同作用或模仿。

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  • 来源
    《British Journal of Haematology》 |2010年第1期|p.83-87|共5页
  • 作者

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

  • 作者单位

    Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland Clinic, Cleveland, Ohio, USA;

    Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland Clinic, Cleveland, Ohio, USA|Department of Paediatrics, Nagoya University Graduate School of Medicine;

    Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland Clinic, Cleveland, Ohio, USA;

    Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland Clinic, Cleveland, Ohio, USA;

    Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland Clinic, Cleveland, Ohio, USA;

    Department of Paediatrics, Nagoya University Graduate School of Medicine|Division of Paediatric Haematology/Oncology, Children’s Medical Centre, Japanese Red Cross Nagoya First Hospital, Nagoya;

    Department of Paediatrics, Nagoya University Graduate School of Medicine;

    Department of Paediatrics, Nagoya University Graduate School of Medicine;

    Department of Paediatrics, Nagoya University Graduate School of Medicine;

    Department of Paediatrics, Nagoya University Graduate School of Medicine;

    Department of Paediatrics, Nagoya University Graduate School of Medicine;

    Division of Paediatric Haematology/Oncology, Children’s Medical Centre, Japanese Red Cross Nagoya First Hospital, Nagoya;

    Department of Paediatrics, St. Luke’s International Hospital, Tokyo, Japan;

    Department of Paediatrics, Nagoya University Graduate School of Medicine;

    |Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland Clinic, Cleveland, Ohio, USA|;

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  • 关键词

    juvenile myelomonocytic leukaemia; ASXL1; chronic myelomonocytic leukaemia; PTPN11; RAS signalling;

    机译：少年骨髓单核细胞白血病;ASXL1;慢性骨髓单核细胞白血病;PTPN11;RAS信号;

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