Primary central nervous system T cell lymphoma involving multiple brain and spinal cord lesions with SETD2 mutation.
Ken Naganuma, Takeaki Matsunaga, Yuta Arai et al.
✦ AI-curated · Sources linked
Case in brief
A 37-year-old Japanese man presented with impaired consciousness, and imaging revealed multiple contrast-enhancing lesions in the brain and spinal cord. Histopathology confirmed peripheral T cell lymphoma, not otherwise specified. Despite initial treatment with methotrexate, procarbazine, and vincristine leading to a complete radiological response, the patient experienced rapid relapse and died shortly after starting consolidation therapy.
What made this case unusual
The case is notable for the simultaneous involvement of both brain and spinal cord in primary CNS T cell lymphoma, along with the identification of a SETD2 mutation, which may be linked to the aggressive nature of the disease.
Diagnostic / clinical pearl
Clinicians should consider the possibility of primary CNS T cell lymphoma in patients presenting with neurological symptoms and multiple enhancing lesions, especially when accompanied by spinal cord involvement.
Why it matters
This case emphasizes the need for molecular genetic profiling in rare lymphomas, as mutations like SETD2 may influence disease behavior and treatment strategies.