Li-Fraumeni syndrome.

Area of Science:

• Genetics
• Oncology
• Molecular Biology

Background:

• Li-Fraumeni syndrome is an inherited disorder characterized by early-onset, multiple organ tumors.
• It stems from germline mutations in the TP53 tumor suppressor gene.
• A strong family history of various cancers often indicates this syndrome.

Purpose of the Study:

• To report a case of Li-Fraumeni syndrome with confirmed molecular diagnosis in Colombia.
• To highlight the clinical presentation of synchronous tumors in a young patient.
• To emphasize the importance of genetic counseling and multidisciplinary management.

Main Methods:

• Clinical assessment and detailed family cancer history.
• Genetic counseling and TP53 gene analysis (sequencing, deletion/duplication analysis).
• Molecular diagnosis using peripheral blood lymphocytes.

Main Results:

• A 31-year-old female presented with a leiomyosarcoma and a phyllodes breast tumor.
• Germline mutation c.527G>T (p.Cys176Phe) in the TP53 gene was identified.
• This represents the first molecularly confirmed case of Li-Fraumeni syndrome in Colombia.

Conclusions:

• Li-Fraumeni syndrome requires early diagnosis and management by a multidisciplinary team.
• Genetic testing for TP53 mutations is crucial for confirming the diagnosis.
• Genetic counseling is essential for patients and their families to understand risks and management options.