A Novel NUP98/RARG Gene Fusion in Pediatric Acute Myeloid Leukemia Resembling Acute Promyelocytic Leukemia

J Pediatr Hematol Oncol. 2022 Apr 1;44(3):e665-e671. doi: 10.1097/MPH.0000000000002331.

Abstract

Here, we introduced the first case of acute myeloid leukemia (AML) with RARG-NUP98 in a pediatric patient. The young male presented with structural and functional abnormalities similar to hypergranular acute promyelocytic leukemia, but was resistant to all transretinoic acids and arsenic trioxide. Till date, only 12 adult AML cases involving RARG rearrangement have been reported. At present, there is no standardized or optimal treatment option for this AML subtype. Disease management may typically require a joint treatment strategy involving chemotherapy, immunotherapy, and support therapy. In this study, we report the clinical manifestations and experimental results of a 10-year-old male and review other cases of RARG gene rearrangement reported in the literature.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Arsenic Trioxide / therapeutic use
  • Child
  • Chromosome Aberrations
  • Gene Fusion
  • Humans
  • Leukemia, Myeloid, Acute* / drug therapy
  • Leukemia, Myeloid, Acute* / therapy
  • Leukemia, Promyelocytic, Acute* / drug therapy
  • Leukemia, Promyelocytic, Acute* / genetics
  • Male
  • Nuclear Pore Complex Proteins / genetics

Substances

  • Nuclear Pore Complex Proteins
  • Nup98 protein, human
  • nuclear pore complex protein 98
  • Arsenic Trioxide