Acquisition of loss of the wild-type NRAS locus with aggressive disease progression in a patient with juvenile myelomonocytic leukemia and a heterozygous NRAS mutation.
In a patient with juvenile myelomonocytic leukemia, a NRAS mutation at codon 12 (GGT>TGT) was initially heterozygous, but became homozygous after blastic crisis (BC). According to microsatellite and FISH analyses, the post-BC homozygous mutation might result from the loss of the wild-type NRAS locus through mitotic recombination.
Matsuda
Kazuyuki
K
Nakazawa
Yozo
Y
Sakashita
Kazuo
K
Shiohara
Masaaki
M
Yamauchi
Kazuyoshi
K
Koike
Kenichi
K
D018450:Disease Progression; D011905:Genes, ras / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007223:Infant; D054429:Leukemia, Myelomonocytic, Juvenile / Q000235:genetics* / Q000473:pathology; D008297:Male; D009154:Mutation