TP53 MUTATIONS EMERGE AT EARLY PHASE OF MYELODYSPLASTIC SYNDROME AND ARE ASSOCIATED WITH COMPLEX CHROMOSOMAL-ABNORMALITIES

We examined TP53 mutation in 57 patients with myelodysplastic syndrome (MDS) at either the MDS phase or at the terminal leukemic phase using polymerase chain reaction-mediated single-strand conformation polymor phism (PCR-SSCP) analysis, TP53 mutations within exons 5 through 8 wer e found in seven patients, All these mutations were detected at the pr esentation of MDS whether these patients showed leukemic transformatio n or not, TP53 mutations were frequently found in patients with loss o f the short arm of chromosome 17 (17p-) (three of seven patients with 17p-, 43%) and complex karyotypic abnormalities (five of 14, 38%), Amo ng the seven patients with the TP53 mutation, four patients progressed to acute leukemia within 7 months from the diagnosis of MDS, and the remaining three died within 7 months without leukemic transformation, These findings suggest that mutations of the TP53 can be implicated in leukemic transformation and a poor prognosis in MDS. (C) 1995 by The American Society of Hematology.