Secondary leukemia and myelodysplastic syndromes have been reported
in patients following treatment for a wide range of neoplastic disorders. However
second malignancies after chemotherapy and/or irradiation for osteosarcoma are
unusual. PROCEDURE: We report the case of a 15-year-old girl who developed a
myelodysplastic syndrome with evolution to acute nonlymphocytic leukemia after
treatment for osteosarcoma. Therapy-related acute leukemia karyotype findings
such as abnormalities of chromosomes 5, 7, and 17 were found in the cytogenetic
analysis. Moreover, using denaturing gradient gel electrophoresis and DNA
sequencing, we detected the presence of a double germline mutation in exon 7 of
the TP53 gene. CONCLUSION: This observation supports the possibility of a causal
relationship between germline TP53 mutations and the development of secondary
leukemia and myelodysplasi
