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TP53 mutations emerge at early phase of myelodysplastic syndrome and are
associated with complex chromosomal abnormalities
H Kaneko, S Misawa, S Horiike, H Nakai and K Kashima
Third Department of Medicine, Kyoto Prefectural University of Medicine,
Japan.
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 polymorphism
(PCR-SSCP) analysis. TP53 mutations within exons 5 through 8 were found in
seven patients. All these mutations were detected at the presentation of
MDS whether these patients showed leukemic transformation or not. TP53
mutations were frequently found in patients with loss of the short arm of
chromosome 17 (17p-) (three of seven patients with 17p-, 43%) and complex
karyotypic abnormalities (five of 14, 38%). Among 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.
Volume 85,
Issue 8,
pp. 2189-2193,
04/15/1995
Copyright © 1995 by The American Society of Hematology
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