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p53 gene mutations in multiple myeloma are associated with advanced forms
of malignancy
A Neri, L Baldini, D Trecca, L Cro, E Polli and AT Maiolo
Servizio di Ematologia, Universita di Milano, Ospedale Maggiore,
I.R.C.C.S., Italy.
The frequency and type of p53 gene mutations was investigated in a series
of 52 cases of multiple myeloma (MM) representative of the different
clinical phases and forms of the disease (indolent, 12 cases; chronic, 24
cases; acute/leukemic, 16 cases). DNAs were analyzed for p53 gene mutations
in exons 5 to 9 by polymerase chain reaction (PCR), single-strand
conformation polymorphism (SSCP), and direct sequencing of PCR-amplified
fragments. Point mutations were detected in 7 of 52 patients (13%) (5 at
exon 8; 1 at exon 6; 1 at exon 7), and were specifically associated with
the more advanced and clinically aggressive acute/leukemic forms of MM (7
of 16 [43%].) Three of the mutated cases had been evaluated at clinical
presentation in earlier phases of the disease (indolent or chronic) and
were found to be negative for p53 mutation. Moreover, three patients with
p53 mutation had not received chemotherapy at the time of investigation.
These results support the notion that the development of MM is a multistep
process and suggest that alterations in the p53 gene may represent an
important late event in MM tumor progression.
Volume 81,
Issue 1,
pp. 128-135,
01/01/1993
Copyright © 1993 by The American Society of Hematology

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