Past Issues

2019: Volume 2, Issue 1

Breast Metachronous Carcinoma and Sarcoma in a Young Patient Leading to the Diagnosis of Li Fraumeni Syndrome

Seidler SJ, Huber DE

Department of Gynaecology and Obstetrics Valais Hospital, Switzerland

Corresponding author: Seidler SJ, Department of Gynaecology and Obstetrics, Valais Hospital,1950 Sion, Switzerland

Received: December 28, 2018
Published: January 15, 2019


Breast cancer is the most frequently diagnosed malignancy and the leading cause of death in women, especially among women below the age of 40 years. Genetic and familial cancer syndromes are more prevalent in young patients. Through the presentation of a case report and a literature review, specific aspects of breast cancer patients with Li-Fraumeni syndrome are discussed. Our patient is a 29-year-old woman diagnosed with breast sarcoma four years after the treatment of a breast cancer by lumpectomy and radiation. Clinical presentation and familial history raised suspicion of a Li-Fraumeni syndrome, confirmed by gene sequencing. Because of a high risk of secondary malignancies, special considerations regarding breast cancer treatment options are warranted and screening for other malignancies is required.

Keywords: Li-Fraumeni Syndrome; Breast Cancer; Sarcoma; Trastuzumab

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