Human Oncology and Pathogenesis Program, Leukemia Service, Memorial Sloan-Kettering Cancer Center, Weill Cornell Medical College, New York, NY 10065, USA.
Cancer Cell. 2011 Oct 18;20(4):420-3. doi: 10.1016/j.ccr.2011.10.004.
Reports of whole-exome sequencing in myelodysplastic syndrome (MDS) patients by Yoshida et al. and Papaemmanuil et al. suggest spliceosome mutations have clinical relevance. Identifying the impact of these mutations on MDS pathogenesis holds promise for therapeutic modulation of mRNA splicing.
Yoshida 等人和 Papaemmanuil 等人报道的骨髓增生异常综合征 (MDS) 患者全外显子测序报告表明剪接体突变具有临床相关性。确定这些突变对 MDS 发病机制的影响有望为调节 mRNA 剪接的治疗提供帮助。