[Hereditary p53 mutation in a patient with multiple tumors: significance for genetic counseling]

Schweiz Med Wochenschr. 1993 Jun 26;123(25):1287-92.
[Article in German]


We describe molecular genetic findings in a patient who initially presented with an intermediate teratoma of the testis and who many years later presented with an oligodendro-astrocytoma. In addition he developed a malignant histiocytoma over the scapula, an adenocarcinoma of the stomach and a late stage adenoma of the sigmoid colon. Due to the development of several neoplasms the possibility of either ataxia telangiectasia or Li-Fraumeni syndrome was considered in differential diagnosis. A molecular genetic investigation revealed that both he and his brother carried a germline p53 tumor suppressor gene mutation at codon 248. From this result we conclude that this family belongs to the Li-Fraumeni syndrome. Once characterized as belonging to the Li-Fraumeni syndrome, the remaining members of the family were typed to determine if they too carried the same mutation. The two children of the index patient were shown not to carry the mutation and are therefore at no increased risk of developing any of the Li-Fraumeni spectrum of malignancies. A molecular genetic investigation into similar families could help to prevent the development of additional malignancies as seen in the index patient, as radiotherapy may interfere with the normal function of the p53 protein and this may in turn help to orchestrate DNA repair after radiation.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Amino Acid Sequence
  • Brain Neoplasms / genetics
  • Gastrointestinal Neoplasms / genetics
  • Genes, p53*
  • Genetic Carrier Screening
  • Glioma / genetics
  • Histiocytoma, Benign Fibrous / genetics
  • Humans
  • Li-Fraumeni Syndrome / genetics*
  • Male
  • Molecular Sequence Data
  • Soft Tissue Neoplasms / genetics
  • Teratoma / genetics
  • Testicular Neoplasms / genetics