Article
PTPN11-related Noonan syndrome predisposes to multifocal low-grade CNS tumors harboring FGFR1 variants.
Journal of neuro-oncology - 5 Mar 2026
Kohanbash Gary, Ryall Scott, Gary Sam E, Hoffman Lindsey M, Siddaway Robert, Bendel Anne E, Gripp Karen W, Walter Andrew W, Hansford Jordan R, Smith Amy A, Wang Hong, Skaugen John M, Tabori Uri, Hawkins Cynthia E, Broniscer Alberto
Abstract excerpt
PURPOSE: To characterize the clinical, radiological, and molecular characteristics of CNS tumors associated with Noonan syndrome (NS) and other non-Neurofibromatosis type 1 RASopathies. METHODS: Twenty-four patients with concern for NS underwent clinical and central radiological review in this multi-institutional study. Whole-exome sequencing, RNA sequencing, and methylation analyses of peripheral blood and/or...
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