NUP98-NSD1 Driven MDS/MPN in Childhood Masquerading as JMML.
J Pediatr Hematol Oncol
; 43(6): e808-e811, 2021 08 01.
Article
in En
| MEDLINE
| ID: mdl-32815876
ABSTRACT
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Oncogene Proteins, Fusion
/
Leukemia, Myelomonocytic, Juvenile
/
Myelodysplastic-Myeloproliferative Diseases
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Child, preschool
/
Female
/
Humans
Language:
En
Journal:
J Pediatr Hematol Oncol
Journal subject:
HEMATOLOGIA
/
NEOPLASIAS
/
PEDIATRIA
Year:
2021
Type:
Article