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Primary Central Nervous System Lymphoma in a Patient with Down Syndrome
Ami Shibata1,2, Fumio Yamaguchi3,4, Kazuma Sasaki2
1Department of Emergency and Critical Care Medicine, Nippon Medical School Tama Nagayama Hospital.
Summary
This is the first reported case of primary central nervous system lymphoma (PCNSL) in an individual with Down syndrome. The patient was successfully treated with chemotherapy and radiation for this rare brain tumor.
Area of Science:
- Neurology
- Oncology
- Genetics
Background:
- Intracranial tumors are uncommon in individuals with Down syndrome.
- While germ cell tumors and gliomas are documented, primary central nervous system lymphoma (PCNSL) has not been previously reported in this population.
Observation:
- A 48-year-old man with Down syndrome presented with left hemiparesis and gait disturbance.
- Diagnostic workup revealed brain tumors, confirmed via biopsy as diffuse large B-cell lymphoma of the central nervous system (CNS).
Findings:
- The case represents the first documented instance of PCNSL in a patient with Down syndrome.
- The patient received chemotherapy including rituximab, methotrexate, procarbazine, and vincristine, with planned whole-brain irradiation.
Implications:
- The potential role of chromosomal abnormalities in Down syndrome in the development of PCNSL requires further investigation.
- Molecular biological studies are needed to elucidate the mechanisms underlying the co-occurrence of Down syndrome and PCNSL.
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