Li-Fraumeni Syndrome Detected during Breast Cancer Diagnosis

Abstract

Li-Fraumeni syndrome (LFS) is an autosomal dominant disorder associated with various malignancies, including soft tissue sarcoma, osteosarcoma, leukemia, brain tumor, and breast, lung, adrenocortical, and gastrointestinal cancer. As radiation therapy in patients with LFS carries a potential risk of secondary carcinogenesis, treatment and surveillance must be carefully selected.

A 27-year-old woman who underwent surgery for right paratibial osteosarcoma aged 18 years old and for left upper mandibular chondrosarcoma aged 27 years old was referred to our department because follow-up computed tomography showed a nodule in her right breast. Needle biopsy revealed ductal carcinoma in situ (DCIS). We recommended genetic counseling and genetic examination because her past medical history matched the Chompret criteria. However, she was reluctant to undergo counseling, and genetic examination was not performed before surgery. We decided upon a treatment strategy under the assumption she had LFS. We performed right nipple-sparing mastectomy and sentinel lymph node biopsy followed by tissue expander insertion. The surgical specimen was a 16.7-cm high-grade DCIS. One and a half years after the operation, she decided to have the genetic examination, which indicated the likely pathogenic variant (NM1126114 (TP53) : c.476C>A : p.Ala159Asp, de novo) and she was diagnosed with LFS. We are currently following her using annual whole-body magnetic resonance imaging.