title: p53 tumour suppressor gene and RAS oncogenes: molecular analysis in the chronic and leukaemic phases of essential thrombocythaemia.
abstract: A panel of 51 cases of essential thrombocythaemia (ET), in chronic or leukaemic phase, was investigated for p53 gene and RAS oncogenes mutations by PCR-SSCP-direct sequencing. No RAS oncogenes mutations were detected, but p53 mutations were identified in three cases: 1/27 cases (approximately 4%) in chronic phase not undergoing chemotherapy, 1/19 cases (approximately 5%) in chronic phase undergoing chemotherapy, and 1/5 cases (20%) which had progressed to leukaemia. Our results suggest that: (1) p53 gene mutations occur sporadically in the chronic phase of ET, independent of chemotherapy, and may contribute to the progression to the leukaemic phase in a limited number of ET patients; (2) the RAS genes family does not seem to be involved in the pathogenesis of ET, unlike other bcr/abl negative chronic myeloproliferative diseases (CMPDs).
authors.affiliation: Servizio di Ematologia, Istituto di Scienze Mediche, Università di Milano, Ospedale Maggiore, I.R.C.C.S., Italy.
authors.forename: A
authors.initials: A
authors.lastname: Neri
authors.forename: N S
authors.initials: NS
authors.lastname: Fracchiolla
authors.forename: F
authors.initials: F
authors.lastname: Radaelli
authors.forename: A
authors.initials: A
authors.lastname: Boletini
authors.forename: S
authors.initials: S
authors.lastname: Ribera
authors.forename: C
authors.initials: C
authors.lastname: Migliorini
authors.forename: D
authors.initials: D
authors.lastname: Trecca
authors.forename: A T
authors.initials: AT
authors.lastname: Maiolo
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D015139:Blotting, Southern; D002908:Chronic Disease; D005260:Female; D016147:Genes, Tumor Suppressor; D016158:Genes, p53 / Q000235:genetics*; D011905:Genes, ras / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction; D013920:Thrombocythemia, Essential / Q000235:genetics*