Pediatric Myelodysplastic Syndrome With Germline RRAS Mutation: Expanding the Phenotype of RASopathies.

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. Copyright © 2020 Wolters Kluwer Health, Inc. All rights reserved.

Citation

Daniel S Catts, Cameron Mroske, Rebecca O Clark, Sean J Hipp, Janet M Berg, Jesse M Hunter, Susan L Whiteway. Pediatric Myelodysplastic Syndrome With Germline RRAS Mutation: Expanding the Phenotype of RASopathies. Journal of pediatric hematology/oncology. 2021 May 01;43(4):e517-e520

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PMID: 32815881

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