title: Molecular analysis of PDGFRA and PDGFRB genes by rapid single-strand conformation polymorphism (SSCP) in patients with core-binding factor leukaemias with KIT or FLT3 mutation.
abstract: BACKGROUND
  Mutations involving KIT and FLT3 genes, encoding tyrosine kinase (TK) membrane receptors, are detected in core-binding factor leukaemia (CBFL) patients. PDFGRA and PDGFRB encode class III TK receptors and are involved both in physiological processes and in the pathogenesis of haematological and solid tumours. The aim of this study was to investigate if PDGFR mutations are involved in CBFL.
  
  
  METHODS
  In order to detect PDGFR mutations in CBFL, 35 patients without KIT or FLT3 mutations patients were screened by rapid and sensitive single-strand conformation polymorphism (SSCP) analysis. Sequence analysis was performed in polymerase chain reaction (PCR) products showing altered mobility in SSCP analysis in order to determine the nucleotide changes.
  
  
  RESULTS
  Three types of single-nucleotide polymorphism (SNP) were detected in the PDGFRA gene (exon 12, exon 13 and exon 18) while no mutation of PDGFRB was detected in the tested CBFLs.
  
  
  CONCLUSIONS
  These data showed that no pathogenic mutations in PDGFRA and PDGFRB were detected in the context of CBFL without KIT and FLT3 mutations. Thus, PDGFR genes do not seem to be involved in CBFL and future studies are needed to establish the genetic causes of the disease in these particular patients.
authors.affiliation: Division of Hematology, Niguarda Hospital, Milan, Italy. alessandra.trojani@ospedaleniguarda.it
authors.forename: Alessandra
authors.initials: A
authors.lastname: Trojani
authors.forename: Carla Barbara
authors.initials: CB
authors.lastname: Ripamonti
authors.forename: Silvana
authors.initials: S
authors.lastname: Penco
authors.forename: Alessandro
authors.initials: A
authors.lastname: Beghini
authors.forename: Gianpaolo
authors.initials: G
authors.lastname: Nadali
authors.forename: Eros
authors.initials: E
authors.lastname: Di Bona
authors.forename: Assunta
authors.initials: A
authors.lastname: Viola
authors.forename: Carlo
authors.initials: C
authors.lastname: Castagnola
authors.forename: Patrizia
authors.initials: P
authors.lastname: Colapietro
authors.forename: Giovanni
authors.initials: G
authors.lastname: Grillo
authors.forename: Laura
authors.initials: L
authors.lastname: Pezzetti
authors.forename: Erica
authors.initials: E
authors.lastname: Ravelli
authors.forename: Maria Cristina
authors.initials: MC
authors.lastname: Patrosso
authors.forename: Alessandro
authors.initials: A
authors.lastname: Marocchi
authors.forename: Antonio
authors.initials: A
authors.lastname: Cuneo
authors.forename: Felicetto
authors.initials: F
authors.lastname: Ferrara
authors.forename: Mario
authors.initials: M
authors.lastname: Lazzarino
authors.forename: Giovanni
authors.initials: G
authors.lastname: Pizzolo
authors.forename: Roberto
authors.initials: R
authors.lastname: Cairoli
authors.forename: Enrica
authors.initials: E
authors.lastname: Morra
mesh_terms: D000208:Acute Disease; D000328:Adult; D000368:Aged; D050660:Core Binding Factors / Q000235:genetics; D005260:Female; D006801:Humans; D007951:Leukemia, Myeloid / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*; D020796:Receptor, Platelet-Derived Growth Factor alpha / Q000235:genetics*; D020797:Receptor, Platelet-Derived Growth Factor beta / Q000235:genetics*; D051941:fms-Like Tyrosine Kinase 3 / Q000235:genetics*
chemical_list: D050660:Core Binding Factors; C497970:FLT3 protein, human; D019009:Proto-Oncogene Proteins c-kit; D020796:Receptor, Platelet-Derived Growth Factor alpha; D020797:Receptor, Platelet-Derived Growth Factor beta; D051941:fms-Like Tyrosine Kinase 3