骨髓肿瘤是一种罕见的临床实体，表现为白血病细胞独立增殖，与急性髓系白血病（AML），骨髓增生异常综合征/肿瘤（MDS），慢性髓细胞白血病（CML）和髓增生性肿瘤（MPN）同时出现或复发有关。骨髓肿瘤破坏了周围组织的正常结构。当它形成在长骨中时，可能导致病理性骨折。我们最近遇到了一例罕见的MDS病例，患者在股骨中出现骨髓肿瘤，并最终导致了病理性骨折。详细的染色体分析显示，骨髓细胞中出现了MDS快速进展后的骨髓肿瘤，同时伴有三体染色体22的出现。对以往导致骨髓肿瘤相关病理性骨折的病例进行的综合回顾表明，染色体9和22的结构重排可能涉及其中。骨髓肿瘤的管理应继续改善，临床医生应注意，具有特定染色体改变的骨髓肿瘤需要额外的医疗关注，以预防病理性骨折。© 2023年作者（们）。

Myeloid sarcoma is a rare clinical entity that presents as an isolated proliferation of leukemic cells, concurrently with or at relapse of acute myeloid leukemia (AML), myelodysplastic syndromes/neoplasms (MDS), chronic myeloid leukemia (CML), and myeloproliferative neoplasm (MPN). Myeloid sarcoma disrupts the normal architecture of its surrounding tissues. When it forms in long bones, it can cause their pathological fracture. We recently experienced a rare case of MDS presenting with myeloid sarcoma in the femur that eventually resulted in its pathological fracture. Detailed chromosomal analysis of the bone marrow cells suggested emergence of myeloid sarcoma during the fast-paced progression of MDS just after acquiring trisomy 22. A comprehensive review of previous cases of myeloid sarcoma-associated pathological fracture indicated possible involvement of structural rearrangements of chromosomes 9 and 22. Management of myeloid sarcoma should continue to improve, and clinicians should note that myeloid sarcoma with specific chromosomal alterations needs extra medical attention to prevent pathological fracture.© 2023. The Author(s).