Pediatric Myelodysplastic Syndrome With Germline RRAS Mutation: Expanding the Phenotype of RASopathies.
| Autor: | Catts DS; San Antonio Uniformed Services Health Education Consortium., Mroske C; Clinical Diagnostics, Ambry Genetics, Aliso Viejo, CA., Clark RO; San Antonio Uniformed Services Health Education Consortium.; Pediatric Hematology/Oncology, Department of Pediatrics., Hipp SJ; San Antonio Uniformed Services Health Education Consortium.; Pediatric Hematology/Oncology, Department of Pediatrics., Berg JM; Genetics and Metabolism, Department of Pediatrics, Brooke Army Medical Center, San Antonio, TX., Hunter JM; Clinical Diagnostics, Ambry Genetics, Aliso Viejo, CA., Whiteway SL; San Antonio Uniformed Services Health Education Consortium.; Pediatric Hematology/Oncology, Department of Pediatrics. |
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| Jazyk: | angličtina |
| Zdroj: | Journal of pediatric hematology/oncology [J Pediatr Hematol Oncol] 2021 May 01; Vol. 43 (4), pp. e517-e520. |
| DOI: | 10.1097/MPH.0000000000001910 |
| Abstrakt: | The RAS/mitogen-activated protein kinase pathway plays a significant role in cell cycle regulation. Germline mutation of this pathway leads to overlapping genetic disorders, RASopathies, and is also an important component of tumorigenesis. Here we describe a rare case of myelodysplastic syndrome with monosomy 7 in a pediatric patient with a germline RRAS mutation. RRAS mutations have been implicated in the development of juvenile myelomonocytic leukemia, but our case suggests RRAS mutations display a broader malignant potential. Our case supports the recommendation that genetic testing should include RRAS in suspected RASopathy patients and if identified, these patients undergo surveillance for hematologic malignancy. Competing Interests: C.M. and J.M.H. were paid employees of Ambry Genetics at the time of this work. The remaining authors declare no conflict of interest. (Copyright © 2020 Wolters Kluwer Health, Inc. All rights reserved.) |
| Databáze: | MEDLINE |
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