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Open Access Case report

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

Karin Kast1*, Mechthild Krause2, Markus Schuler3, Katrin Friedrich4, Barbara Thamm5, Andrea Bier6, Wolfgang Distler1 and Stefan Krüger6

Author Affiliations

1 Klinik und Poliklinik für Frauenheilkunde und Geburtshilfe, Universitätsklinikum Carl Gustav Carus, Fetscherstr, 74, 01307, Dresden, Germany

2 Klinik und Poliklinik für Strahlentherapie und Radioonkologie, Universitätsklinikum Carl Gustav Carus, Fetscherstr, 74, 01307, Dresden, Germany

3 Medizinisch Klinik und Poliklinik I, Universitätsklinikum Carl Gustav Carus, Fetscherstr, 74, 01307, Dresden, Germany

4 Institut für Pathologie, Universitätsklinikum Carl Gustav Carus, Fetscherstr, 74, 01307, Dresden, Germany

5 MVZ Dr. Reising-Ackermann u, Kollegen, Strümpelstr, 40, 04289, Leipzig, Germany

6 Gemeinschaftspraxis für Humangenetik, Gutenbergstr, 5, 01307, Dresden, Germany

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BMC Cancer 2012, 12:217  doi:10.1186/1471-2407-12-217

Published: 6 June 2012

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.

Keywords:
Li-Fraumeni-Syndrome; LFS; TP53; Secondary cancer; Treatment