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

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.

• Authors: Shireen S Ganapathi, Sunil S Raikar, Svetlana A Yatsenko, Miroslav Djokic, Andrew Bukowinski
• Journal: Cancer reports (Hoboken, N.J.) (Cancer Rep (Hoboken)) Vol. 4 Issue 4 Pg. e1372 (08 2021) ISSN: 2573-8348 [Electronic] United States
• PMID: 33784031 (Publication Type: Case Reports, Journal Article)
• Copyright: © 2021 The Authors. Cancer Reports published by Wiley Periodicals LLC.

Chemical References

• Membrane Proteins
• NUP98-NSD1 protein, human
• Oncogene Proteins, Fusion
• GTP Phosphohydrolases
• NRAS protein, human

Topics

• Adolescent
• Antineoplastic Combined Chemotherapy Protocols (therapeutic use)
• Biopsy
• Bone Marrow (pathology)
• Fatal Outcome
• Female
• GTP Phosphohydrolases (genetics)
• Hematopoietic Stem Cell Transplantation
• Humans
• Leukemia, Myeloid, Acute (diagnosis, genetics, pathology, therapy)
• Membrane Proteins (genetics)
• Mutation
• Neoadjuvant Therapy
• Neoplasms, Complex and Mixed (diagnosis, genetics, pathology, therapy)
• Oncogene Proteins, Fusion (genetics)
• Precursor Cell Lymphoblastic Leukemia-Lymphoma (diagnosis, genetics, pathology, therapy)