Primary Cutaneous Anaplastic Large Cell Lymphoma in a Patient With Li Fraumeni Syndrome

Area of Science:

• Oncology
• Genetics
• Dermatology

Background:

• Li-Fraumeni syndrome (LFS) is an inherited cancer predisposition caused by TP53 mutations, increasing the risk of various malignancies.
• While breast implant-associated anaplastic large cell lymphoma is known in LFS, primary cutaneous anaplastic large cell lymphoma has not been previously documented.

Purpose of the Study:

• To report the first case of primary cutaneous anaplastic large cell lymphoma in a patient with Li-Fraumeni syndrome.
• To highlight the importance of considering hereditary cancer predisposition in managing cutaneous lymphomas.

Main Methods:

• Case presentation of a 64-year-old man with LFS and a TP53 mutation.
• Histopathologic and immunophenotypic analysis of the skin lesion.
• Targeted exome sequencing and whole-body PET/CT imaging.

Main Results:

• The patient presented with a solitary ulcerated thigh nodule, diagnosed as primary cutaneous anaplastic large cell lymphoma.
• Genetic analysis confirmed the germline TP53 mutation and identified somatic alterations.
• No evidence of systemic disease was found; the lesion was surgically excised, and radiotherapy was avoided due to LFS risks.

Conclusions:

• This case expands the spectrum of lymphoid malignancies associated with Li-Fraumeni syndrome.
• Recognizing hereditary cancer predisposition is crucial for tailoring treatment strategies in primary cutaneous lymphomas.
• The patient remained disease-free 36 months post-diagnosis.