To characterize the clinical, radiological, and molecular characteristics of CNS tumors associated with Noonan syndrome (NS) and other non-Neurofibromatosis type 1 RASopathies. Twenty-four patients wi Show more
To characterize the clinical, radiological, and molecular characteristics of CNS tumors associated with Noonan syndrome (NS) and other non-Neurofibromatosis type 1 RASopathies. 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 tumor specimens were performed. Nineteen (79%) of 24 participants had NS, 17/19 (89%) of which had a germline The online version contains supplementary material available at 10.1007/s11060-026-05478-7. Show less
To characterize the clinical, radiological, and molecular characteristics of CNS tumors associated with Noonan syndrome (NS) and other non-Neurofibromatosis type 1 RASopathies. Twenty-four patients wi Show more
To characterize the clinical, radiological, and molecular characteristics of CNS tumors associated with Noonan syndrome (NS) and other non-Neurofibromatosis type 1 RASopathies. 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 tumor specimens were performed. Nineteen (79%) of 24 participants had NS, 17/19 (89%) of which had a germline Show less
This report aims to demonstrate the phenotypic, radiological, and genetic features of encephalocraniocutaneous lipomatosis (ECCL), a rare neurocutaneous disorder characterized by a distinct triad of c Show more
This report aims to demonstrate the phenotypic, radiological, and genetic features of encephalocraniocutaneous lipomatosis (ECCL), a rare neurocutaneous disorder characterized by a distinct triad of congenital skin lesions, ocular anomalies, and central nervous system (CNS) abnormalities. The mosaic nature of ECCL puts the radiologist in a unique position to facilitate its prompt diagnosis. In the patient reported here, pulmonic stenosis and facial dysmorphism initially raised the suspicion of Noonan syndrome, which was unsupported by genetic testing. Serial imaging revealed multiple intracranial lipomas and glioma along with a clinically evident nevus psiloliparus, prompting further genetic evaluation. This identified a novel de novo variant in FGFR1 (c.1685A > C, p.Glu562Ala). The variant appeared heterozygous in blood and cheek swab cells derived DNA, contrasting with the typical mosaic nature of variants in ECCL. Show less