NUP98-NSD1 Driven MDS/MPN in Childhood Masquerading as JMML.
| Autor: | Behnert A; Department of Pediatrics, Benioff Children's Hospital.; Helen Diller Comprehensive Cancer Center, University of California San Francisco, San Francisco., Lee AG; Department of Pediatrics, Benioff Children's Hospital.; Helen Diller Comprehensive Cancer Center, University of California San Francisco, San Francisco., Young EP; Department of Pediatrics, Benioff Children's Hospital., Breese MR; Department of Pediatrics, Benioff Children's Hospital.; Helen Diller Comprehensive Cancer Center, University of California San Francisco, San Francisco., Leung SG; Department of Pediatrics, Benioff Children's Hospital.; Helen Diller Comprehensive Cancer Center, University of California San Francisco, San Francisco., Behroozfard I; Department of Pediatrics, Benioff Children's Hospital., Maruffi M; Department of Pediatric Subspecialty, Kaiser Permanente, Oakland, CA., Sweet-Cordero EA; Department of Pediatrics, Benioff Children's Hospital.; Helen Diller Comprehensive Cancer Center, University of California San Francisco, San Francisco., Dvorak CC; Department of Pediatrics, Benioff Children's Hospital.; Helen Diller Comprehensive Cancer Center, University of California San Francisco, San Francisco., Chu J; Department of Pediatrics, Benioff Children's Hospital., Stieglitz E; Department of Pediatrics, Benioff Children's Hospital.; Helen Diller Comprehensive Cancer Center, University of California San Francisco, San Francisco. |
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| Jazyk: | angličtina |
| Zdroj: | Journal of pediatric hematology/oncology [J Pediatr Hematol Oncol] 2021 Aug 01; Vol. 43 (6), pp. e808-e811. |
| DOI: | 10.1097/MPH.0000000000001913 |
| Abstrakt: | 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. Competing Interests: The authors declare no conflict of interest. (Copyright © 2020 Wolters Kluwer Health, Inc. All rights reserved.) |
| Databáze: | MEDLINE |
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