Department of Hematology/Oncology, Saitama Children's Medical Center, Saitama, Japan.
J Pediatr. 2013 Jun;162(6):1285-8, 1288.e1. doi: 10.1016/j.jpeds.2013.01.003. Epub 2013 Feb 10.
A small fraction of cases of juvenile myelomonocytic leukemia (JMML) develop massive disease activation. Through genomic analysis of JMML, which developed in an individual with mosaicism for oncogenic KRAS mutation with rapid progression, we identified acquired uniparental disomy at 12p. We demonstrated that duplication of oncogenic KRAS is associated with rapid JMML progression.
少数幼年髓单核细胞白血病 (JMML) 病例会出现大量疾病激活。通过对一名患有快速进展性嵌合性致癌 KRAS 突变的 JMML 个体进行基因组分析，我们发现了 12p 上获得性单亲二体性。我们证明了致癌 KRAS 的重复与 JMML 的快速进展有关。
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