Significance of somatic mutations on the prognosis of myelodysplastic syndromes

  • YOSHIZATO Tetsuichi
    Kyoto University, Department of Pathology and Tumor Biology, Graduate School of Medicine

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  • MDSにおける体細胞変異と予後への影響
  • MDS ニ オケル タイサイボウ ヘンイ ト ヨゴ エ ノ エイキョウ

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<p>During the past decade, substantial advances have been made in our understanding of the genetic basis of myelodysplastic syndromes (MDS), wherein a spectrum of major mutational targets associated with MDS, such as splicing factors and epigenetic regulators, has been revealed. The impact of mutations in these genes on disease subtypes and prognosis has also been evaluated. A mutation in SF3B1, one of the spliceosome machinery components, defines a distinct MDS subtype characterized by ring sideroblasts, indolent clinical course, and favorable clinical outcome. On the other hand, mutation in TP53 is observed in 5-10% of cases and is associated with an aggressive phenotype, higher frequency of copy number abnormalities, and poor prognosis. Even in the setting of hematopoietic stem-cell transplantation, patients with TP53 mutations, particularly in cases where complex cytogenetic abnormalities were also present, showed extremely poor prognosis. Because the importance of molecular profiles in the prognosis of MDS is being better understood, treatment decisions may begin incorporating this information in addition to conventional clinical factors.</p>


  • Rinsho Ketsueki

    Rinsho Ketsueki 59 (8), 1078-1085, 2018

    The Japanese Society of Hematology

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