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:
NRAS; NUP98-NSD1; mTOR inhibitors; mixed phenotype acute leukemia (MPAL).
© 2021 The Authors. Cancer Reports published by Wiley Periodicals LLC.
MeSH terms
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Adolescent
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Antineoplastic Combined Chemotherapy Protocols / therapeutic use
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Biopsy
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Bone Marrow / pathology
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Fatal Outcome
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Female
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GTP Phosphohydrolases / genetics*
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Hematopoietic Stem Cell Transplantation
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Humans
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Leukemia, Myeloid, Acute / diagnosis*
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Leukemia, Myeloid, Acute / genetics
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Leukemia, Myeloid, Acute / pathology
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Leukemia, Myeloid, Acute / therapy
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Membrane Proteins / genetics*
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Mutation
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Neoadjuvant Therapy
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Neoplasms, Complex and Mixed / diagnosis*
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Neoplasms, Complex and Mixed / genetics
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Neoplasms, Complex and Mixed / pathology
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Neoplasms, Complex and Mixed / therapy
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Oncogene Proteins, Fusion / genetics*
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Precursor Cell Lymphoblastic Leukemia-Lymphoma / diagnosis*
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Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics
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Precursor Cell Lymphoblastic Leukemia-Lymphoma / pathology
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Precursor Cell Lymphoblastic Leukemia-Lymphoma / therapy
Substances
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Membrane Proteins
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NUP98-NSD1 protein, human
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Oncogene Proteins, Fusion
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GTP Phosphohydrolases
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NRAS protein, human