CENTRAL NERVOUS SYSTEM CANCERS IN PATIENTS WITH NON-NEUROFIBROMATOSIS TYPE 1 RASopathies

The association of non-neurofibromatosis type 1 (NF-1)-RASopathies (e.g., Noonan syndrome [NS]) with central nervous system (CNS) cancers is uncommon (less than 40 described cases). NS, which is reported to be as common as NF-1, causes a variable phenotype with age and in severity, with a large proportion of mildly affected subjects who may be misdiagnosed or not diagnosed at all. Based on our experience and the overlapping molecular characteristics of non-NF-1 RASopathies and somatic abnormalities found in some pediatric CNS cancers (e.g. low-grade gliomas), we postulate that this association is more common than currently recognized. We are collecting cases of the association of non-NF-1 RASopathies and CNS cancers at our institution and from other institutions in the US. By using data from cases collected through CBTTC, we are hoping to increase the size of our cohort of research participants.