Primary Cutaneous Anaplastic Large Cell Lymphoma in a Patient With Li Fraumeni Syndrome.
Aliya Shabbir, Katherine Awh, Neha Gupta et al.
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Case in brief
A 64-year-old man with Li-Fraumeni syndrome and a germline TP53 p.R196* mutation presented with a solitary ulcerated nodule on the left anterior thigh. Biopsy showed an ulcerated dermal infiltrate of large atypical CD30-positive T lymphocytes, with an immunophenotype supporting primary cutaneous anaplastic large cell lymphoma. Sequencing also identified somatic mutations and copy number alterations. Whole-body PET/CT showed no systemic disease. The lesion was completely excised; radiotherapy was deferred because of concern about radiation-induced malignancy in the setting of Li-Fraumeni syndrome. He remained disease-free 36 months after diagnosis.
What made this case unusual
The report describes primary cutaneous anaplastic large cell lymphoma in a patient with Li-Fraumeni syndrome, an association not previously described in the source.
Diagnostic / clinical pearl
In a patient with a hereditary cancer predisposition syndrome, treatment planning for a localized lymphoma should account for syndrome-specific risks; here, radiotherapy was deferred because of the risk of radiation-induced malignancy.
Why it matters
This case adds primary cutaneous anaplastic large cell lymphoma to the lymphoid malignancies reported in Li-Fraumeni syndrome.