Spliceosome-related gene mutations in myelodysplastic syndrome can be used as stable markers for monitoring minimal residual disease during follow-up.
Various gene mutations have been reported in patients with myelodysplastic syndrome (MDS). Serial studies of mutations during follow-up are important for investigating the stability of the mutations for use as minimal residual disease (MRD) markers. Sequential quantitative analyses of 5 patients with spliceosome-related gene mutations by allele-specific quantitative polymerase chain reaction revealed that the U2AF1 S34F and SF3B1 K666N were persistently retained during the disease progression. The spliceosome-related gene mutations appear to be stable during disease progression and may be useful as potential markers for MRD monitoring in MDS patients that usually lack established specific MRD markers.
Department of Laboratory Medicine, Shinshu University Hospital, Matsumoto, Japan. kmatsuda@shinshu-u.ac.jp
Kazuyuki
K
Matsuda
Fumihiro
F
Ishida
Toshiro
T
Ito
Hideyuki
H
Nakazawa
Shuhei
S
Miura
Chiaki
C
Taira
Akane
A
Sueki
Yukihiro
Y
Kobayashi
Takayuki
T
Honda
D015415:Biomarkers / Q000032:analysis; D004252:DNA Mutational Analysis; D005500:Follow-Up Studies; D006801:Humans; D009154:Mutation; D009190:Myelodysplastic Syndromes / Q000235:genetics* / Q000473:pathology; D018365:Neoplasm, Residual / Q000235:genetics* / Q000473:pathology; D016133:Polymerase Chain Reaction; D017381:Spliceosomes / Q000235:genetics*
D015415:Biomarkers