Mixed phenotype acute leukemia in a child associated with a NUP98‐NSD1 fusion and NRAS p.Gly61Arg mutation

Abstract

Abstract Background Mixed phenotype acute leukemia (MPAL) is a rare subset of acute leukemia in the pediatric population associated with genetic alterations seen in both acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML). Case We describe a patient with MPAL with a NUP98 (nucleoporin 98)‐NSD1 gene fusion (nuclear receptor binding SET domain protein1) and NRAS (neuroblastoma RAS viral oncogene homolog mutation) p.Gly61Arg mutation who was treated with upfront AML‐based chemotherapy, received hematopoietic stem cell transplant (HSCT), but unfortunately died from relapsed disease. Conclusion This case highlights the challenges faced in choosing treatment options in MPAL patients with complex genomics, with predominant myeloid features.

Keywords

• mixed phenotype acute leukemia (MPAL)
• mTOR inhibitors
• NRAS
• NUP98‐NSD1