PT  - JOURNAL ARTICLE
AU  - TROJANI, ALESSANDRA
AU  - RIPAMONTI, CARLA BARBARA
AU  - PENCO, SILVANA
AU  - BEGHINI, ALESSANDRO
AU  - NADALI, GIANPAOLO
AU  - DI BONA, EROS
AU  - VIOLA, ASSUNTA
AU  - CASTAGNOLA, CARLO
AU  - COLAPIETRO, PATRIZIA
AU  - GRILLO, GIOVANNI
AU  - PEZZETTI, LAURA
AU  - RAVELLI, ERICA
AU  - PATROSSO, MARIA CRISTINA
AU  - MAROCCHI, ALESSANDRO
AU  - CUNEO, ANTONIO
AU  - FERRARA, FELICETTO
AU  - LAZZARINO, MARIO
AU  - PIZZOLO, GIOVANNI
AU  - CAIROLI, ROBERTO
AU  - MORRA, ENRICA
TI  - 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
DP  - 2008 Sep 01
TA  - Anticancer Research
PG  - 2745--2751
VI  - 28
IP  - 5A
4099  - http://ar.iiarjournals.org/content/28/5A/2745.short
4100  - http://ar.iiarjournals.org/content/28/5A/2745.full
SO  - Anticancer Res2008 Sep 01; 28
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.