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

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• 作者：Motohiro Kato ; MD ; PhD¹ ; ^&lowast ; ; ^{katom-tky@umin.ac.jp} ; Naoko Yasui ; MD¹ ; ^&lowast ; ; Masafumi Seki ; MD² ; ^&lowast ; ; Hiroshi Kishimoto ; MD³ ; Aiko Sato-Otsubo ; MS⁴ ; Daisuke Hasegawa ; MD ; PhD⁵ ; Nobutaka Kiyokawa ; MD ; PhD⁶ ; Ryoji Hanada ; MD¹ ; Seishi Ogawa ; MD ; PhD⁴ ; Atsushi Manabe ; MD ; PhD⁵ ; Junko Takita ; MD ; PhD² ; ⁷ ; Katsuyoshi Koh ; MD¹
• 关键词：6-MP ; 6-mercaptopurine ; JMML ; Juvenile myelomonocytic leukemia ; MAPK ; Mitogen-activated protein kinase ; PBMC ; Peripheral blood mononuclear cell ; SNP ; Single nucleotide polymorphism ; UPD ; Uniparental disomy
• 刊名：The Journal of Pediatrics
• 出版年：2013
• 出版时间：June, 2013
• 年：2013
• 卷：162
• 期：6
• 页码：1285-1288.e1
• 全文大小：2900 K

文摘

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.