CASE REPORT article
Front. Oncol.
Sec. Hematologic Malignancies
Volume 15 - 2025 | doi: 10.3389/fonc.2025.1667681
Isolated Central Nervous System Relapse in Acute Myeloid Leukemia: A Case Report and Review of Therapeutic Challenges
Provisionally accepted
- 1Virginia Polytechnic Institute and State University, Blacksburg, United States
- 2Carilion Clinic, Roanoke, United States
- 3Blue Ridge Cancer Care, Roanoke, VA, United States
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Central nervous system (CNS) relapse in acute myeloid leukemia (AML) is an uncommon but clinically significant event, with isolated CNS involvement occurring in a minority of cases and often eluding standard surveillance protocols. We report the case of a 60-year-old man with biallelic CEBPA-mutated AML and complex cytogenetics who achieved two complete remissions over four years before developing isolated leptomeningeal relapse involving the cauda equina. Despite a favorable molecular profile, CSF analysis revealed more than 3,000 WBCs with 97% blasts in the absence of marrow disease. The patient was treated with intrathecal methotrexate, cytarabine, and hydrocortisone, and later transitioned to an Ommaya reservoir. His response was complicated by persistent neurologic deficits and treatment-related neurotoxicity, culminating in functional decline, disease progression in the CNS, and death under hospice care. This case underscores the diagnostic and therapeutic challenges of isolated CNS recurrence in AML, including limited intrathecal drug delivery to nerve roots, the lack of CSF molecular profiling, and the potential for clonal evolution. Given the poor prognosis and therapeutic resistance associated with such cases, our findings support the consideration of CSF surveillance and combined systemic-intrathecal therapy in high-risk patients, particularly those with monocytic subtypes, elevated LDH, or complex cytogenetics.
Keywords: Acute Myeloid Leukemia, isolated CNS relapse, Intrathecal chemotherapy, Leptomeningeal disease, CEBPA mutation
Received: 17 Jul 2025; Accepted: 01 Sep 2025.
Copyright: © 2025 Burns, Muir, Foster and Kochenderfer. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Colin Burns, Virginia Polytechnic Institute and State University, Blacksburg, United States
Ian Muir, Carilion Clinic, Roanoke, United States
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