首页> 外文期刊>Genes, Chromosomes and Cancer >Analysis of ALK ALK , MYCN MYCN , and the ALK ligand ALKAL2 ALKAL2 ( FAM150B/AUGα FAM150B/AUGα ) in neuroblastoma patient samples with chromosome arm 2p rearrangements
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Analysis of ALK ALK , MYCN MYCN , and the ALK ligand ALKAL2 ALKAL2 ( FAM150B/AUGα FAM150B/AUGα ) in neuroblastoma patient samples with chromosome arm 2p rearrangements

机译:铬母细胞瘤患者样品中κAb,MyCN mycn和Alk配体碱碱(AlK配体碱碱碱的分析,具有染色体臂2p重排

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摘要

Abstract Gain of chromosome arm 2p is a previously described entity in neuroblastoma (NB). This genomic address is home to two important oncogenes in NB— MYCN and anaplastic lymphoma kinase ( ALK ). MYCN amplification is a critical prognostic factor coupled with poor prognosis in NB. Mutation of the ALK receptor tyrosine kinase has been described in both somatic and familial NB. Here, ALK activation occurs in the context of the full‐length receptor, exemplified by activating point mutations in NB. ALK overexpression and activation, in the absence of genetic mutation has also been described in NB. In addition, the recently identified ALK ligand ALKAL2 (previously described as FAM150B and AUGα) is also found on the distal portion of 2p, at 2p25. Here we analyze 356 NB tumor samples and discuss observations indicating that gain of 2p has implications for the development of NB. Finally, we put forward the hypothesis that the effect of 2p gain may result from a combination of MYCN , ALK , and the ALK ligand ALKAL2 .
机译:摘要染色体臂2p的增益是神经母细胞瘤(Nb)中的先前描述的实体。该基因组地址是Nb-mycn和Anploplastic淋巴瘤激酶(Alk)中的两个重要癌症的所在地。 MyCN扩增是一种临界预后因子,其具有差的NB预后差。已在体细胞和家族性NB中描述了ALK受体酪氨酸激酶的突变。这里,在全长受体的上下文中发生烷烃活化,例如通过NB中的激活点突变举例说明。在没有遗传突变的情况下,也已在Nb中描述了ALK过度表达和活化。另外,在2P的远端部分,最近鉴定的ALK配体碱(先前描述为FAM150B和AUGα),在2P25中也发现了在2P的远端部分上。在这里,我们分析356个NB肿瘤样本并讨论观察结果,表明2P的增益对NB的发展有影响。最后,我们提出了由MyCN,Alk和Alk配体碱2的组合产生2P增益的效果的假设。

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  • 来源
    《Genes, Chromosomes and Cancer》 |2020年第1期|共8页
  • 作者单位

    Department of Laboratory MedicineInstitute of Biomedicine Sahlgrenska Academy University of;

    Department of Laboratory MedicineInstitute of Biomedicine Sahlgrenska Academy University of;

    Department of Laboratory MedicineInstitute of Biomedicine Sahlgrenska Academy University of;

    Department of Medical Biochemistry and Cell BiologyInstitute of Biomedicine Sahlgrenska Academy;

    Bioinformatics Core FacilitySahlgrenska Academy University of GothenburgGothenburg Sweden;

    Childhood Cancer Research Unit Department of Women's and Children's HealthKarolinska;

    Department of Medical Biochemistry and Cell BiologyInstitute of Biomedicine Sahlgrenska Academy;

    Department of Medical Biochemistry and Cell BiologyInstitute of Biomedicine Sahlgrenska Academy;

    Childhood Cancer Research Unit Department of Women's and Children's HealthKarolinska;

    Department of Laboratory MedicineInstitute of Biomedicine Sahlgrenska Academy University of;

    Department of Medical Biochemistry and Cell BiologyInstitute of Biomedicine Sahlgrenska Academy;

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  • 原文格式 PDF
  • 正文语种 eng
  • 中图分类 医学遗传学;
  • 关键词

    ALK; ALKAL2; Augmentor; FAM150; MYCN; neuroblastoma;

    机译:alk;alkal2;augmentor;fam150;mycn;神经母细胞瘤;

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