CASE REPORT article
Front. Oncol.
Sec. Hematologic Malignancies
Myeloid Sarcoma Masquerading as Central Nervous System Diffuse Large B-Cell Lymphoma: A Case Report and Literature Review
Provisionally accepted- Lanzhou University Second Hospital, Lanzhou, China
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This report presents a challenging case of a 52-year-old male with a history of acute myeloid leukemia (AML) with t(8;21)(q22;q22.1)/RUNX1::RUNX1T1 who developed an intracranial mass during hematologic remission. Initial histopathological examination of the resected lesion, due to aberrant expression of B-cell markers (PAX-5, CD79a, c-Myc, Bcl-2), led to a misdiagnosis of diffuse large B-cell lymphoma (DLBCL). Subsequent comprehensive integration of clinical history, repeated bone marrow assessment, cytogenetics, fluorescence in situ hybridization (FISH), and extended immunohistochemistry(IHC) revealed the tumor to be a myeloid sarcoma (MS), representing an extramedullary relapse of his underlying AML. This case underscores the diagnostic pitfalls of MS, particularly within the central nervous system (CNS), and highlights the critical importance of considering MS in patients with a history of AML, especially those with genetic profiles predisposing to extramedullary disease, even when pathology initially suggests lymphoma.
Keywords: Acute Myeloid Leukemia, Central Nervous System, Diffuse large B-cell lymphoma, Masquerade, myeloid sarcoma, RUNX1::RUNX1T1
Received: 25 Sep 2025; Accepted: 09 Dec 2025.
Copyright: © 2025 Hu, Liu, Ma, Gao, Zeng and Chen. 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:
Pengyun Zeng
Huiling Chen
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