Secondary Leukemia in a Patient With EBV-HLH Carrying Heterozygous STXBP2 Variant

Abstract

Hemophagocytic lymphohistiocytosis (HLH) is a symptom with severe systemic hyperinflammation. A 26-month-old male presented with Epstein-Barr virus associated HLH with a heterozygous variant of syntaxin-binding protein-2 (STXBP2). Complete remission was achieved with the HLH-2004 protocol, but the disease soon relapsed. Four weeks after re-installing HLH-2004 protocol, HLH was resolved. The cumulative dosage of etoposide was 2100 mg/m2. He developed acute promyelocytic leukemia 17 months later. The patient underwent standard chemotherapy and since remained in complete remission. In conclusion, a regular screening of malignance might be in necessity for the patients harboring gene variants associated with familial HLH.