title: The detection of KIT mutations in acute myeloid leukemia.
abstract: OBJECTIVE
  This study describes a new method used in the clinical laboratory at Hospital Israelita Albert Einstein to detect mutations in exons 8 and 17 of the KIT gene in patients with acute myeloid leukemia.
  
  
  METHODS
  Genomic DNA extraction was performed on 54 samples of peripheral blood or bone marrow from patients with acute myeloid leukemia. The extracted DNA was amplified by polymerase chain reaction and sequenced, and the fragments were analyzed.
  
  
  RESULTS
  Within the analyzed samples, we detected four mutations in exon 8, two mutations in exon 17, and mutations or a double mutation in one sample.
  
  
  CONCLUSIONS
  The tests detecting mutations in exon 8 and 17 on the KIT gene were successfully standardized. The test is now included among the routine diagnostics employed for patients at Hospital Israelita Albert Einstein clinical laboratory.
authors: Serviço de Hematologia, Hospital Israelita Albert Einstein, São Paulo, SP, Brasil.
authors: Luis Eduardo Silva
authors: LE
authors: Machado
authors: João Renato Rebello
authors: JR
authors: Pinho
authors: Roberta
authors: R
authors: Sitnik
authors: Nair Hideko
authors: NH
authors: Muto
authors: Elvira Deolinda Rodrigues Pereira
authors: ED
authors: Velloso
authors: Roberta Cardoso
authors: RC
authors: Petroni
authors: Paulo Vidal
authors: PV
authors: Campregher
mesh_terms: D019075:Electrophoresis, Capillary; D005091:Exons / Q000235:genetics*; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D017422:Sequence Analysis, DNA
chemical_list: D019009:Proto-Oncogene Proteins c-kit