-Case Reports-

Primary Central Nervous System Lymphoma in a Patient with Down Syndrome

Ami Shibata^1,2, Fumio Yamaguchi^3,4, Kazuma Sasaki², Shoji Yokobori² and Akio Morita³

¹Department of Emergency and Critical Care Medicine, Nippon Medical School Tama Nagayama Hospital, Tokyo, Japan
²Department of Emergency and Critical Care Medicine, Nippon Medical School, Tokyo, Japan
³Department of Neurosurgical Surgery, Nippon Medical School, Tokyo, Japan
⁴Department of Neurosurgery for Community Health, Nippon Medical School, Tokyo, Japan

Intracranial tumors are rare in persons with Down syndrome. Although germ cell tumors and gliomas have been reported in Down syndrome, primary central nervous system lymphoma (PCNSL) has not. We report a case of PCNSL in a 48-year-old man with Down syndrome and no history of malignant tumors. He visited our hospital for evaluation of left hemiparesis and gait disturbance. A thorough examination revealed brain tumors, and analysis of a biopsy specimen of the tumor confirmed a diagnosis of PCNSL. The final pathological diagnosis was diffuse large B-cell lymphoma of the central nervous system. Chemotherapy with rituximab, methotrexate, procarbazine, and vincristine was administered, and whole-brain irradiation was planned in conjunction with chemotherapy. It is unclear whether chromosomal abnormalities related to Down syndrome were involved in the development of PCNSL. Further molecular biological analysis may clarify the mechanism of combined Down syndrome and PCNSL.

J Nippon Med Sch 2023; 90: 346-350

Keywords
brain tumor, Down syndrome, lymphoma, PCNSL, primary central nervous system lymphoma

Correspondence to
Ami Shibata, MD, PhD, Department of Emergency and Critical Care Medicine, Nippon Medical School Tama Nagayama Hospital, 1-7-1 Nagayama, Tama, Tokyo 206-8512, Japan
068m1044@nms.ac.jp

Received, March 1, 2022
Accepted, April 21, 2022