NUP98-NSD1 driven MDS/MPN in childhood masquerading as JMML
In: J Pediatr Hematol Oncol Journal of pediatric hematology/oncology, vol 43, iss 6; (2021-08-01)
Online
unknown
Zugriff:
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.
Titel: |
NUP98-NSD1 driven MDS/MPN in childhood masquerading as JMML
|
---|---|
Autor/in / Beteiligte Person: | Dvorak, Christopher C. ; Stieglitz, Elliot ; Behroozfard, Inge ; Leung, Stanley G. ; Chu, Julia ; Maruffi, Maria ; Lee, Alex G. ; E. Alejandro Sweet-Cordero ; Breese, Marcus R. ; Elizabeth P Young ; Behnert, Astrid |
Link: | |
Quelle: | J Pediatr Hematol Oncol Journal of pediatric hematology/oncology, vol 43, iss 6; (2021-08-01) |
Veröffentlichung: | 2021 |
Medientyp: | unknown |
Schlagwort: |
|
Sonstiges: |
|