Zhao Cindy S, Wang Lin, Menke Joshua R, Homer Natalie A
Byers Eye Institute at Stanford University, 2452 Watson Ct, Palo Alto, CA, 94303, USA.
Stanford University Department of Pathology, Lane Building L235, 300 Pasteur Drive, Stanford, CA, 94305, USA.
Am J Ophthalmol Case Rep. 2025 May 3;39:102350. doi: 10.1016/j.ajoc.2025.102350. eCollection 2025 Sep.
Myeloid sarcoma (MS) is an extramedullary-based hematolymphoid tumor that presents in 2-9 % of cases of acute myeloid leukemia (AML). Herein, we present an unusual adult case of myeloid sarcoma (MS) presenting as an isolated orbital mass and review the literature.
A 61-year-old man presented with several weeks of unilateral eye pain, proptosis, and diplopia. Examination demonstrated 4 mm of proptosis with limitation of supraduction and abduction. Presenting visual acuity was 20/50 with no signs of optic neuropathy. Imaging revealed an infiltrative, retrobulbar soft tissue density involving the extraocular muscles and optic nerve. Laboratory workup for inflammatory and infectious etiologies was negative. The patient initially responded well to a high-dose oral steroid taper but developed recurrent symptoms. Biopsy was pursued and histopathology was consistent with MS, conferring a diagnosis of AML. Oncologic workup demonstrated central nervous system involvement. After orbital radiation and chemotherapy, no further blasts were detectable in the cerebral spinal fluid. At one year follow-up the patient had complete clinical tumor regression, with stable visual acuity and resolved right exophthalmos.
In adults, MS presents rarely as an isolated finding in the orbit. Biopsy is indicated when an orbital mass recurs or does not fully respond to anti-inflammatory treatment. Establishing a diagnosis of MS can be a histopathological challenge. Genetic testing to evaluate for CEBPA mutations in the bZIP domain can predict a good prognosis. When diagnosed, MS warrants referral to an oncologist for systemic evaluation and treatment due to its implication of AML.
髓系肉瘤（MS）是一种基于髓外的血液淋巴肿瘤，在2% - 9%的急性髓系白血病（AML）病例中出现。在此，我们报告一例罕见的成年髓系肉瘤病例，其表现为孤立的眼眶肿块，并对相关文献进行综述。
一名61岁男性出现数周的单侧眼痛、眼球突出和复视。检查发现眼球突出4毫米，上转和外展受限。初始视力为20/50，无视神经病变迹象。影像学检查显示眶后软组织密度浸润，累及眼外肌和视神经。针对炎症和感染病因的实验室检查结果为阴性。患者最初对大剂量口服类固醇逐渐减量治疗反应良好，但症状复发。进行了活检，组织病理学结果与MS一致，确诊为AML。肿瘤学检查显示有中枢神经系统受累。经过眼眶放疗和化疗后，脑脊液中未检测到进一步的原始细胞。在一年的随访中，患者临床肿瘤完全消退，视力稳定，右眼眼球突出消失。
在成年人中，MS很少以孤立的眼眶病变形式出现。当眼眶肿块复发或对抗炎治疗不完全反应时，应进行活检。确立MS的诊断可能是一项组织病理学挑战。评估bZIP结构域中CEBPA突变的基因检测可预测良好的预后。一旦确诊，由于MS提示AML，因此需要转诊至肿瘤学家进行全身评估和治疗。
