- 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
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.