A 16-Year-Old Male with Noonan’s Syndrome Develops Progressive Scoliosis and Deteriorating Gait

Sanford, Robert A.; Bowman, Robin; Tomita, Tadanori; León, Germán David Sánchez; Palka, Peter

doi:10.1159/000028761

Cited by 17 publications

(9 citation statements)

References 3 publications

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“…Brain tumor is the second most common type of malignancy in childhood; however, only 2 NS patients with pilocytic astrocytoma (a 16-year-old boy and 11-year-old girl) have been reported [34,35]. This is in accordance with the rarity of somatic mutations of PTPN11 , NRAS , KRAS or HRAS genes in astrocytoma [36], where mutation of BRAF is a frequent molecular event [37].…”

Section: Cns Tumorsmentioning

confidence: 96%

Malignant Diseases in Noonan Syndrome and Related Disorders

Hasle

2009

Horm Res Paediatr

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The overall risk of cancer in children with Noonan (NS), cardio-facial-cutaneous, Costello or LEOPARD syndrome is high, although no precise estimates are available. There are few data on cancer in adults with NS, but the reported numbers of malignancies in adults do not seem excessive. Juvenile myelomonocytic leukemia (JMML) is a rare aggressive leukemia in young children. A JMML-like myeloproliferative disorder has been described in about 30 neonates with NS and the PTPN11 mutation. The disorder often regresses spontaneously, but fatal complications may occur. A review of the literature indicates an increased risk of acute lymphoblastic leukemia and acute myeloid leukemia in NS. Young children with Costello syndrome have an extremely high risk of rhabdomyosarcoma, and also an increased risk of neuroblastoma and bladder carcinoma. Registry-based studies of patients with NS and related disorders diagnosed with molecular genetics and a high-quality long-term follow-up are necessary to further estimate the incidence of malignancy.

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Section: Cns Tumorsmentioning

confidence: 96%

Malignant Diseases in Noonan Syndrome and Related Disorders

Hasle

2009

Horm Res Paediatr

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“…51 Three cases of glial tumours in Noonan syndrome have been recorded, two in association with a germline PTPN11 mutation. 59,60 …”

Section: Organ Dysfunctionmentioning

confidence: 99%

Noonan syndrome

et al. 2013

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Noonan syndrome is a genetic multisystem disorder characterised by distinctive facial features, developmental delay, learning difficulties, short stature, congenital heart disease, renal anomalies, lymphatic malformations, and bleeding difficulties. Mutations that cause Noonan syndrome alter genes encoding proteins with roles in the RAS–MAPK pathway, leading to pathway dysregulation. Management guidelines have been developed. Several clinically relevant genotype–phenotype correlations aid risk assessment and patient management. Increased understanding of the pathophysiology of the disease could help development of pharmacogenetic treatments.

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“…He was found to be heterozygous for a G>C nucleotide substitution (c.417G>C) in exon 4 of PTPN11, resulting in the replacement of a glutamic acid codon (GAG) with an aspartic acid codon (GAC) at amino acid position 139 (E139D). Review of literature revealed three other reports of pilocytic astrocytomas described in patients with NS with PTPN11 mutations but our patient is the first report of an optic nerve glioma in NS [11,[13][14][15].…”

Section: Case Reportmentioning

confidence: 52%

Optic nerve pilomyxoid astrocytoma in a patient with Noonan syndrome

Nair

Fort

Yachnis

et al. 2015

Pediatric Blood & Cancer

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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.

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A 16-Year-Old Male with Noonan’s Syndrome Develops Progressive Scoliosis and Deteriorating Gait

Cited by 17 publications

References 3 publications

Malignant Diseases in Noonan Syndrome and Related Disorders

Malignant Diseases in Noonan Syndrome and Related Disorders

Noonan syndrome

Optic nerve pilomyxoid astrocytoma in a patient with Noonan syndrome

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