RT Journal Article
SR Electronic
T1 Molecular Analysis of <em>PDGFRA</em> and <em>PDGFRB</em> Genes by Rapid Single-strand Conformation Polymorphism (SSCP) in Patients with Core-binding Factor Leukaemias without <em>KIT</em> or <em>FLT3</em> Mutation
JF Anticancer Research
JO Anticancer Res
FD International Institute of Anticancer Research
SP 2745
OP 2751
VO 28
IS 5A
A1 TROJANI, ALESSANDRA
A1 RIPAMONTI, CARLA BARBARA
A1 PENCO, SILVANA
A1 BEGHINI, ALESSANDRO
A1 NADALI, GIANPAOLO
A1 DI BONA, EROS
A1 VIOLA, ASSUNTA
A1 CASTAGNOLA, CARLO
A1 COLAPIETRO, PATRIZIA
A1 GRILLO, GIOVANNI
A1 PEZZETTI, LAURA
A1 RAVELLI, ERICA
A1 PATROSSO, MARIA CRISTINA
A1 MAROCCHI, ALESSANDRO
A1 CUNEO, ANTONIO
A1 FERRARA, FELICETTO
A1 LAZZARINO, MARIO
A1 PIZZOLO, GIOVANNI
A1 CAIROLI, ROBERTO
A1 MORRA, ENRICA
YR 2008
UL http://ar.iiarjournals.org/content/28/5A/2745.abstract
AB 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. Patients and 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. Conclusion: 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.