ERG and CD31 expression in acute megakaryoblastic leukemia and myeloid sarcoma: A diagnostic pitfall.
Ali Yılmaz Altay, Naciye Betül Barut, Simge Erdem et al.
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Case in brief
A case of acute megakaryoblastic leukemia (AMKL) presented as a soft tissue mass was misdiagnosed as composite hemangioendothelioma due to the co-expression of ERG and CD31. Further investigation revealed that while ERG expression was frequent and extensive in AMKL blasts, CD31 expression did not differ significantly from other myeloid neoplasms. Recognizing this co-expression is crucial for accurate diagnosis.
What made this case unusual
The co-expression of ERG and CD31 in AMKL mimicked vascular neoplasms, leading to diagnostic confusion with conditions like angiosarcoma.
Diagnostic / clinical pearl
Clinicians should be aware that ERG and CD31 co-expression in AMKL can lead to misdiagnosis as vascular tumors, particularly in extramedullary presentations.
Why it matters
This case highlights the importance of distinguishing between myeloid neoplasms and vascular tumors to prevent misinterpretation and ensure appropriate management.