Extensive myeloid sarcoma presenting with esophageal compression and dysphagia as the initial manifestation

Myeloid sarcoma (MS) is an extramedullary tumor of immature myeloid cells that can precede or accompany acute myeloid leukemia (AML). Mediastinal/retroperitoneal involvement causing esophageal compression is rare and prone to misdiagnosis.

A 67-year-old woman presented with 20 days of progressive dysphagia.

Contrast-enhanced Computed tomography showed infiltrative soft-tissue masses in the posterior mediastinum, para-aortic region, and bilateral chest/abdominal walls, encasing the esophagus and major vessels; endoscopy confirmed extrinsic esophageal stenosis. EUS-FNA was nondiagnostic for small-cell carcinoma. Core biopsy with high-power review revealed predominantly medium-to-large blasts with focal granulocytic maturation. Immunophenotype supported myeloid lineage: MPO diffuse positive; CD117 positive; focal CD34 and CD99; weak-to-focal CD45/LCA; negative B-cell (CD19, CD20, CD79a), T-cell (CD2, CD3, CD5, CD7), and epithelial markers (CK AE1/AE3, CK19). Ki-67 proliferation rate was 40%-50%. Peripheral blood counts were unremarkable for blasts or cytopenias; bone marrow aspirate/biopsy/flow showed no diagnostic evidence of AML. Final diagnosis: MS with extrinsic esophageal compression.

AML-type systemic chemotherapy with the HAA regimen (homoharringtonine 3 mg d1-7, aclarubicin 20 mg d1-7, cytarabine 0.2 g d1-7; q3 weeks) plus standard supportive care.

Dysphagia improved during the first cycle. Interval imaging demonstrated reduction of mediastinal/retroperitoneal soft-tissue bulk and improved esophageal lumen consistent with disease control. No radiotherapy or esophageal stenting was required. On follow-up, disease remained controlled without transformation to AML.

Infiltrative mediastinal/retroperitoneal MS may present with esophageal obstruction and mimic lymphoma or carcinoma. High-index suspicion, targeted biopsy with high-power morphology, and a focused immunohistochemical panel are critical for timely diagnosis and treatment initiation.