Abstract:
:Mutations of the p53 tumour suppressor gene have frequently been observed in several types of solid tumours and are believed to be implicated in the development of these tumours. To determine the relevance of p53 mutations in haematologic neoplasms, we performed polymerase chain reaction-single strand conformation polymorphism analysis on the p53 gene in 45 patients with various types of haematologic neoplasms. In exons 5-8 containing highly conserved regions, mobility shifts indicating sequence alterations were detected in four of the 45 patients, and subsequent sequencing was performed. A point mutation resulting in a novel stop codon was detected at codon 213 in one of 23 cases of chronic myelogenous leukaemia (one of five cases of blast crisis). Point mutations causing amino acid substitutions were detected in one of four cases of myelodysplastic syndrome at codon 195, one of three cases of adult T-cell leukaemia at codon 281, and one of eight cases of acute lymphoblastic leukaemia at codon 281, and these missense mutations were accompanied by loss of the wild type allele. Patients harbouring these nonsense and missense mutations were in advanced disease stages. These findings suggest that mutational inactivation of the p53 gene is infrequent but is involved in the tumorigenesis of several types of haematologic neoplasms at least in some cases.
journal_name
Br J Haematoljournal_title
British journal of haematologyauthors
Mori N,Wada M,Yokota J,Terada M,Okada M,Teramura M,Masuda M,Hoshino S,Motoji T,Oshimi Kdoi
10.1111/j.1365-2141.1992.tb08213.xsubject
Has Abstract,Author List Incompletepub_date
1992-06-01 00:00:00pages
235-40issue
2eissn
0007-1048issn
1365-2141journal_volume
81pub_type
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