title: Incidence and prognosis of c-KIT and FLT3 mutations in core binding factor (CBF) acute myeloid leukaemias.
abstract: DNA from 110 adult de novo acute myeloid leukaemia (AML) patients exhibiting either inv(16) (n = 63) or t(8;21) (n = 47) was screened for mutations in the c-KIT (exon 8 and Asp816) and FLT3 (ITD and Asp835) genes. c-KIT exon 8 mutations were found in 15/63 (23.8%) inv(16) patients and 1/47 (2.1%) t(8;21) patients. c-KIT Asp816 mutations were present in 5/63 (7.9%) inv(16) AML and 5/47 (10.6%) t(8;21) AML. FLT3 mutations were identified in five patients (7.9%) with inv(16) and three patients (5.6%) with t(8;21) AML. All mutations were mutually exclusive; 40% of inv(16) AML patients possessed either a c-KIT or FLT3 mutation. c-KIT exon 8 mutations were shown to be a significant factor adversely affecting relapse rate.
authors.affiliation: Academic Unit of Haematology, Division of Genomic Medicine, Royal Hallamshire Hospital, Sheffield, UK.
authors.forename: Rory S
authors.initials: RS
authors.lastname: Care
authors.forename: Peter J M
authors.initials: PJ
authors.lastname: Valk
authors.forename: Anne C
authors.initials: AC
authors.lastname: Goodeve
authors.forename: Faisel M
authors.initials: FM
authors.lastname: Abu-Duhier
authors.forename: Wendy M C
authors.initials: WM
authors.lastname: Geertsma-Kleinekoort
authors.forename: Giu A
authors.initials: GA
authors.lastname: Wilson
authors.forename: Mamdooh A
authors.initials: MA
authors.lastname: Gari
authors.forename: Ian R
authors.initials: IR
authors.lastname: Peake
authors.forename: Bob
authors.initials: B
authors.lastname: Löwenberg
authors.forename: John T
authors.initials: JT
authors.lastname: Reilly
mesh_terms: D000208:Acute Disease; D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D006801:Humans; D007951:Leukemia, Myeloid / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D011379:Prognosis; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*; D012008:Recurrence; D016019:Survival Analysis
chemical_list: D008565:Membrane Proteins; C084881:flt3 ligand protein; D019009:Proto-Oncogene Proteins c-kit