Aggressive transformation of juvenile myelomonocytic leukemia associated with duplication of oncogenic KRAS due to acquired uniparental disomy

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

doi:10.1016/j.jpeds.2013.01.003

Aggressive transformation of juvenile myelomonocytic leukemia associated with duplication of oncogenic KRAS due to acquired uniparental disomy

J Pediatr. 2013 Jun;162(6):1285-8, 1288.e1. doi: 10.1016/j.jpeds.2013.01.003. Epub 2013 Feb 10.

Authors

Motohiro Kato¹, Naoko Yasui, Masafumi Seki, Hiroshi Kishimoto, Aiko Sato-Otsubo, Daisuke Hasegawa, Nobutaka Kiyokawa, Ryoji Hanada, Seishi Ogawa, Atsushi Manabe, Junko Takita, Katsuyoshi Koh

Affiliation

¹ Department of Hematology/Oncology, Saitama Children's Medical Center, Saitama, Japan. katom-tky@umin.ac.jp

PMID: 23403250
DOI: 10.1016/j.jpeds.2013.01.003

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.

Publication types

Case Reports

MeSH terms

Humans
Infant
Leukemia, Myelomonocytic, Juvenile / genetics*
Leukemia, Myelomonocytic, Juvenile / pathology*
Male
Mosaicism
Mutation
Oncogenic Viruses / genetics*
Proto-Oncogene Proteins / genetics*
Proto-Oncogene Proteins p21(ras)
Uniparental Disomy / genetics*
ras Proteins / genetics*

Substances

KRAS protein, human
Proto-Oncogene Proteins
Proto-Oncogene Proteins p21(ras)
ras Proteins