Myeloid sarcoma transformed from myeloproliferative neoplasm: A case report and review of literature

BACKGROUND Myeloid sarcoma (MS) is a rare hematological malignancy that may be associated with myelodysplastic or myeloproliferative neoplasms. Herein, we report a case of transformation from myelofibrosis to MS. CASE SUMMARY A 56-year-old male patient was found to have multiple bone lesions by the pelvic magnetic resonance imaging. Pathological analysis of the lesions indicated a myeloid tumor, and immunohistochemistry revealed a TP53 mutation. Bone marrow aspiration was consistent with myelofibrosis. Based on the patient’s history of polycythemia and the immunohistochemical findings of the surgically resected lesions, a transformation from a myeloproliferative neoplasm to MS was suggested. The patient developed hematological toxicity after receiving chemotherapy with idarubicin plus cytarabine, and treatment was subsequently adjusted to ruxolitinib combined with venetoclax. However the patient exhibited suboptimal treatment response. CONCLUSION Cases of myelofibrosis transforming into MS are extremely rare. The TP53 mutation is a key molecular marker associated with poor tumor prognosis. Because it can be easily mistaken for other tumors, it is crucial to perform relevant examinations and establish a clear diagnosis as early as possible. This facilitates the timely formulation of an appropriate treatment plan and may help prolong the patient’s life.