Pediatric Myelodysplastic Syndrome With Germline RRAS Mutation: Expanding the Phenotype of RASopathies. Issue 4 (May 2021)

• Record Type: Journal Article
• Authors: Catts, Daniel S.; Mroske, Cameron; Clark, Rebecca O.; Hipp, Sean J.; Berg, Janet M.; Hunter, Jesse M.; Whiteway, Susan L.
• Is Part Of: Journal of pediatric hematology/oncology. Volume 43:Issue 4(2021)
• Publication Date: 2021-05
• Subjects: myelodysplastic syndrome -- monosomy 7 -- RRAS -- RASopathy; Pediatric hematology -- Periodicals; Tumors in children -- Periodicals; 618.9215
• DOI: 10.1097/MPH.0000000000001910
• Languages: English
• ISSNs: 1077-4114

Abstract

Abstract : 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.