TY - JOUR
T1 - Pilocytic astrocytoma in a child with Noonan syndrome
AU - Schuettpelz, Laura G.
AU - McDonald, Sharon
AU - Whitesell, Kristina
AU - Desruisseau, David M.
AU - Grange, Dorothy K.
AU - Gurnett, Christina A.
AU - Wilson, David B.
PY - 2009
Y1 - 2009
N2 - 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.
AB - 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.
KW - Astrocytoma
KW - Noonan syndrome
KW - PTPN11
UR - http://www.scopus.com/inward/record.url?scp=71049122433&partnerID=8YFLogxK
U2 - 10.1002/pbc.22193
DO - 10.1002/pbc.22193
M3 - Article
C2 - 19621452
AN - SCOPUS:71049122433
SN - 1545-5009
VL - 53
SP - 1147
EP - 1149
JO - Pediatric Blood and Cancer
JF - Pediatric Blood and Cancer
IS - 6
ER -