Aggressive Transformation of Juvenile Myelomonocytic Leukemia Associated with Duplication of Oncogenic KRAS due to Acquired Uniparental Disomy

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.