Late onset Li-Fraumeni Syndrome with bilateral breast cancer and other malignancies: case report and review of the literature

Research output: Contribution to journal › Case report › Contributed › peer-review

Contributors

  • Karin Kast - , University Hospital Carl Gustav Carus Dresden, Department of Gynecology and Obstetrics (Author)
  • Mechthild Krause - , Department of Radiotherapy and Radiooncology, University Hospital Carl Gustav Carus Dresden (Author)
  • Markus Schuler - , Department of Internal Medicine I, University Hospital Carl Gustav Carus Dresden (Author)
  • Katrin Friedrich - , University Hospital Carl Gustav Carus Dresden, Institute of Pathology (Author)
  • Barbara Thamm - , MVZ Labor Dr. Reising-Ackermann und Kollegen (Author)
  • Andrea Bier - , Group practice for human genetics (Author)
  • Wolfgang Distler - , University Hospital Carl Gustav Carus Dresden, Department of Gynecology and Obstetrics (Author)
  • Stefan Krüger - , Group practice for human genetics (Author)

Abstract

Background: Li-Fraumeni-Syndrome (LFS) is an autosomal-dominant, inherited tumour predisposition syndrome associated with heterozygous germline mutations in the TP53 gene. Patients with LFS are at a high risk to develop early-onset breast cancer and multiple malignancies, among which sarcomas are the most common. A high incidence of childhood tumours and close to 100% penetrance has been described. Knowledge of the genetic status of the TP53 gene in these patients is critical not only due to the increased risk of malignancies, but also because of the therapeutic implications, since a higher rate of radiation-induced secondary tumours in these patients has been observed.Case report: We report a patient with LFS harbouring heterozygous, pathogenic TP53 germline mutation, who was affected by four synchronous malignancies at the age of 40: a myxofibrosarcoma of the right upper arm, bilateral breast cancer and a periadrenal liposarcoma. Radiological treatments and a surveillance program were adjusted according to recommendations for LFS patients.Conclusion: Management of tumour treatment of patients with LFS is different to the general population because of their risk for secondary cancers in the radiation field. Screening procedures should take a possibly elevated risk for radiation induced cancer into account.

Details

Original languageEnglish
Article number217
JournalBMC cancer
Volume12
Publication statusPublished - 6 Jun 2012
Peer-reviewedYes

External IDs

PubMed 22672556
ORCID /0000-0003-1776-9556/work/171065815

Keywords

Sustainable Development Goals

ASJC Scopus subject areas

Keywords

  • LFS, Li-Fraumeni-Syndrome, Secondary cancer, TP53, Treatment