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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. Copyright © 2013 Mosby, Inc. All rights reserved.

Citation

Motohiro Kato, Naoko Yasui, Masafumi Seki, Hiroshi Kishimoto, Aiko Sato-Otsubo, Daisuke Hasegawa, Nobutaka Kiyokawa, Ryoji Hanada, Seishi Ogawa, Atsushi Manabe, Junko Takita, Katsuyoshi Koh. Aggressive transformation of juvenile myelomonocytic leukemia associated with duplication of oncogenic KRAS due to acquired uniparental disomy. The Journal of pediatrics. 2013 Jun;162(6):1285-8, 1288.e1

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PMID: 23403250

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