Pilocytic astrocytoma in a child with Noonan syndrome.
Noonan syndrome (NS; MIM 163950) is an autosomal dominant dysmorphic syndrome characterized by distinct facial features, cardiac anomalies, short stature, and motor delay. Activating mutations in PTPN11, encoding the protein tyrosine phosphatase SHP2, are associated with about 50% of cases. Mutations in other genes in the RAS/mitogen-activated protein kinase signaling pathway are responsible for many of the remainder of cases. While mutations in this pathway are found in a variety of malignancies, including solid tumors, there are few reports of solid tumors in individuals with NS. We report here a patient with PTPN11 mutation-associated NS and a pilocytic astrocytoma.
Schuettpelz
Laura G
LG
Department of Pediatrics, Washington University School of Medicine, Saint Louis, Missouri 63110, USA. schuettpelz_l@kids.wustl.edu
McDonald
Sharon
S
Whitesell
Kristina
K
Desruisseau
David M
DM
Grange
Dorothy K
DK
Gurnett
Christina A
CA
Wilson
David B
DB
D001254:Astrocytoma / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D009634:Noonan Syndrome / Q000150:complications*; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11 / Q000235:genetics
C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11