腹水分析による孤発性骨髄肉腫の診断:隠された病態の解明
Zhengyu Zhou1, Zhanyi Yue1, Landi Zhang1
1Department of Laboratory Diagnostics, Changhai Hospital, Naval Medical University, Shanghai, China.
Introduction:
Isolated myeloid sarcoma, defined as an extramedullary manifestation of acute myeloid leukemia with essentially normal bone marrow, is frequently misdiagnosed as other disorders due to its nonspecific presentation.
Methods:
A 31-year-old woman presented at Shanghai Changhai hospital with abdominal symptoms without obvious inducement.
Results:
Computed tomography scans revealed circumferential wall thickening of the terminal ileum with luminal narrowing, accompanied by moderate ascites. Primitive myeloid cells were identified in ascitic fluid through cytologic analysis. Flow cytometric analysis of the ascitic fluid showed an immunophenotypic profile consistent with myeloid blasts. Molecular analysis of the ascitic fluid identified the presence of CBFβ::MYH11 fusion genes. The bone marrow aspiration, biopsy, and fluorescence in situ hybridization test revealed normocellular marrow without abnormalities. The final diagnosis was isolated myeloid sarcoma.
Discussion:
Cytologic, flow cytometric, and molecular analyses of ascitic fluid can provide critical diagnostic evidence for myeloid sarcoma in cases where abdominal effusion is associated with myeloid sarcoma involvement.
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