NUP98-NSD1 Driven MDS/MPN in Childhood Masquerading as JMML

J Pediatr Hematol Oncol. 2021 Aug 1;43(6):e808-e811. doi: 10.1097/MPH.0000000000001913.


Overlapping myelodysplastic/myeloproliferative neoplasms (MDS/MPN) are clonal hematopoietic disorders with features of myelodysplasia and myeloproliferation. The only well-characterized MDS/MPN in children is juvenile myelomonocytic leukemia, an aggressive disorder of infants and toddlers. The biochemical hallmark of this disease is hyperactivation of the Ras/MAPK signaling pathway caused by mutations in Ras pathway genes in more than 90% of patients. Translocations involving receptor tyrosine kinases have been identified in rare cases. Here, we report a 2-year-old patient who presented with MDS/MPN driven by a cytogenetically cryptic NUP98-NSD1 fusion, a translocation thought to exclusively occur in patients with acute myeloid leukemia.

Publication types

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

MeSH terms

  • Child, Preschool
  • Cytogenetics
  • Female
  • Humans
  • Leukemia, Myelomonocytic, Juvenile / diagnosis
  • Leukemia, Myelomonocytic, Juvenile / genetics*
  • Myelodysplastic-Myeloproliferative Diseases / diagnosis
  • Myelodysplastic-Myeloproliferative Diseases / genetics*
  • Oncogene Proteins, Fusion / genetics*
  • Translocation, Genetic


  • NUP98-NSD1 protein, human
  • Oncogene Proteins, Fusion