title: Aggressive transformation of juvenile myelomonocytic leukemia associated with duplication of oncogenic KRAS due to acquired uniparental disomy.
abstract: 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.
authors: Department of Hematology/Oncology, Saitama Children's Medical Center, Saitama, Japan. katom-tky@umin.ac.jp
authors: Motohiro
authors: M
authors: Kato
authors: Naoko
authors: N
authors: Yasui
authors: Masafumi
authors: M
authors: Seki
authors: Hiroshi
authors: H
authors: Kishimoto
authors: Aiko
authors: A
authors: Sato-Otsubo
authors: Daisuke
authors: D
authors: Hasegawa
authors: Nobutaka
authors: N
authors: Kiyokawa
authors: Ryoji
authors: R
authors: Hanada
authors: Seishi
authors: S
authors: Ogawa
authors: Atsushi
authors: A
authors: Manabe
authors: Junko
authors: J
authors: Takita
authors: Katsuyoshi
authors: K
authors: Koh
mesh_terms: D006801:Humans; D007223:Infant; D054429:Leukemia, Myelomonocytic, Juvenile / Q000235:genetics* / Q000473:pathology*; D008297:Male; D009030:Mosaicism; D009154:Mutation; D009858:Oncogenic Viruses / Q000235:genetics*; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D016283:Proto-Oncogene Proteins p21(ras); D024182:Uniparental Disomy / Q000235:genetics*; D018631:ras Proteins / Q000235:genetics*
chemical_list: C117307:KRAS protein, human; D011518:Proto-Oncogene Proteins; D016283:Proto-Oncogene Proteins p21(ras); D018631:ras Proteins