Late Onset Li-Fraumeni Syndrome with Bilateral Breast Cancer and Other Malignancies: Case Report and Review of the Literature

Overview

Journal BMC Cancer

Publisher Biomed Central

Specialty Oncology

Date 2012 Jun 8

PMID 22672556

Citations 8

Authors

Karin Kast

Mechthild Krause

Markus Schuler

Katrin Friedrich

Barbara Thamm

Andrea Bier

Wolfgang Distler

Stefan Kruger

Affiliations

Soon will be listed here.

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.

Citing Articles

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Li-Fraumeni syndrome in the setting of re-occurring malignancies after 27 years of remission: a case report.

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Second Primary Malignancies in Patients with Well-differentiated/Dedifferentiated Liposarcoma.

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