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

• Type of Material: Article
• Authors: Shireen S Ganapathi, University of Washington; Sunil Raikar, Emory University; Svetlana A Yatsenko, University of Pittsburgh School of Medicine; Miroslav Djokic, University of Pittsburgh School of Medicine; Andrew Bukowinski, University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh
• Language: English
• Date: 2021-08-01
• Publisher: Wiley Periodicals LLC.
• Publication Version: Final Published Version
• Copyright Statement: © 2021 The Authors. Cancer Reports published by Wiley Periodicals LLC.
• License: Creative Commons Attribution 4.0 International
• Final Published Version (URL): http://dx.doi.org/10.1002/cnr2.1372
• Title of Journal or Parent Work: Cancer Reports
• Volume: 4
• Issue: 4
• Start Page: e1372
• End Page: e1372
• Keywords: Oncogene Proteins, Fusion; Membrane Proteins; Neoplasms, Complex and Mixed; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Hematopoietic Stem Cell Transplantation; Humans; Adolescent; Neoadjuvant Therapy; Bone Marrow; Female; Biopsy; NRAS; Antineoplastic Combined Chemotherapy Protocols; Leukemia, Myeloid, Acute; mixed phenotype acute leukemia (MPAL); mTOR inhibitors; Fatal Outcome; GTP Phosphohydrolases; Mutation; NUP98-NSD1
• Research Categories: Health Sciences, Oncology; Health Sciences, Medicine and Surgery

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.