Summary
A 24-year-old male patient with hereditary retinoblastoma and a poorly differentiated osteoblastic osteogenic sarcoma was found to carry a mutant RB 1 allele in all cells. This findings was most likely a point mutation or microdeletion because Southern blot analysis of peripheral blood DNA failed to disclose any structural aberration of the RBl gene. A somatic mutation (deletion) affecting the other allele was found in the osteosarcoma cells. Management of tumor by external radiotherapy in early age is questioned because the effect of irradiation is to significantly increase the total incidence of second tumors above the already high incidence in non-irradiated patients.
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Issing, W.J., Wustrow, T.P.U., Oeckler, R. et al. An association of the RB gene with osteosarcoma: molecular genetic evaluation of a case of hereditary retinoblastoma. Eur Arch Otorhinolaryngol 250, 277–280 (1993). https://doi.org/10.1007/BF00186225
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DOI: https://doi.org/10.1007/BF00186225