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

  • Author(s): Behnert, Astrid
  • Lee, Alex G
  • Young, Elizabeth P
  • Breese, Marcus R
  • Leung, Stanley G
  • Behroozfard, Inge
  • Maruffi, Maria
  • Sweet-Cordero, E Alejandro
  • Dvorak, Christopher C
  • Chu, Julia
  • Stieglitz, Elliot
  • et al.

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.

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