title: Optic nerve pilomyxoid astrocytoma in a patient with Noonan syndrome.
abstract: Noonan syndrome (NS; MIM 163950) is an autosomal dominant syndrome which is clinically diagnosed by the distinct facial features, short stature, cardiac anomalies and developmental delay. About 50% of cases are associated with gain of function mutations in PTPN11 gene which leads to activation of the RAS/mitogen-activated protein kinase signaling pathway. This is known to have a role in tumorigenesis. Despite this, only limited reports of solid tumors (Fryssira H, Leventopoulos G, Psoni S, et al. Tumor development in three patients with Noonan syndrome. Eur J Pediatr 2008;167:1025-1031; Schuettpelz LG, McDonald S, Whitesell K et al. Pilocytic astrocytoma in a child with Noonan syndrome. Pediatr Blood Cancer 2009;53:1147-1149; Sherman CB, Ali-Nazir A, Gonzales-Gomez I, et al. Primary mixed glioneuronal tumor of the central nervous system in a patient with Noonan syndrome. J Pediatr Hematol Oncol 2009;31:61-64; Sanford RA, Bowman R, Tomita T, et al. A 16 year old male with Noonan's syndrome develops progressive scoliosis and deteriorating gait. Pediatr Neurosurg 1999;30:47-52) and no prior reports of optic gliomas have been described in patients with NS. We present here a patient with NS with a PTPN11 mutation and an optic pathway pilomyxoid astrocytoma.
authors.affiliation: Department of Pediatric Hematology Oncology, University of Florida, Gainesville, Florida.
authors.forename: Sushmita
authors.initials: S
authors.lastname: Nair
authors.forename: John A
authors.initials: JA
authors.lastname: Fort
authors.forename: Anthony T
authors.initials: AT
authors.lastname: Yachnis
authors.forename: Charles A
authors.initials: CA
authors.lastname: Williams
mesh_terms: D000293:Adolescent; D001254:Astrocytoma / Q000209:etiology*; D006801:Humans; D008297:Male; D009154:Mutation; D009634:Noonan Syndrome / Q000150:complications* / Q000235:genetics; D019574:Optic Nerve Neoplasms / Q000209:etiology*; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11 / Q000235:genetics
chemical_list: C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11
keywords: Noonan syndrome; PTPN11; optic nerve astrocytoma