Pilocytic astrocytoma in a child with Noonan syndrome
Article first published online: 20 JUL 2009
Copyright © 2009 Wiley-Liss, Inc.
Pediatric Blood & Cancer
Volume 53, Issue 6, pages 1147–1149, 1 December 2009
How to Cite
Schuettpelz, L. G., McDonald, S., Whitesell, K., Desruisseau, D. M., Grange, D. K., Gurnett, C. A. and Wilson, D. B. (2009), Pilocytic astrocytoma in a child with Noonan syndrome. Pediatr. Blood Cancer, 53: 1147–1149. doi: 10.1002/pbc.22193
- Issue published online: 9 SEP 2009
- Article first published online: 20 JUL 2009
- Manuscript Accepted: 10 JUN 2009
- Manuscript Received: 6 APR 2009
- 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. Pediatr Blood Cancer 2009;53:1147–1149. © 2009 Wiley-Liss, Inc.