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Clinical Trial
Telomere attrition and candidate gene mutations preceding monosomy 7 in aplastic anemia.
- Bogdan Dumitriu, Xingmin Feng, Danielle M Townsley, Yasutaka Ueda, Tetsuichi Yoshizato, Rodrigo T Calado, Yanqin Yang, Yoshiyuki Wakabayashi, Sachiko Kajigaya, Seishi Ogawa, Jun Zhu, and Neal S Young.
- Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD;
- Blood. 2015 Jan 22; 125 (4): 706-9.
AbstractThe pathophysiology of severe aplastic anemia (SAA) is immune-mediated destruction of hematopoietic stem and progenitor cells (HSPCs). Most patients respond to immunosuppressive therapies, but a minority transform to myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML), frequently associated with monosomy 7 (-7). Thirteen SAA patients were analyzed for acquired mutations in myeloid cells at the time of evolution to -7, and all had a dominant HSPC clone bearing specific acquired mutations. However, mutations in genes associated with MDS/AML were present in only 4 cases. Patients who evolved to MDS and AML showed marked progressive telomere attrition before the emergence of -7. Single telomere length analysis confirmed accumulation of short telomere fragments of individual chromosomes. Our results indicate that accelerated telomere attrition in the setting of a decreased HSPC pool is characteristic of early myeloid oncogenesis, specifically chromosome 7 loss, in MDS/AML after SAA, and provides a possible mechanism for development of aneuploidy.
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