Optic nerve pilomyxoid astrocytoma in a patient with Noonan syndrome

Pediatric Blood and Cancer

Volumn 62, Issue 6, 2015, Pages 1084-1086

  Nair, Sushmita ^a   Fort, John A ^a   Yachnis, Anthony T ^a   Williams, Charles A ^a  

^a UNIVERSITY OF FLORIDA   (United States)

Author keywords

Noonan syndrome; Optic nerve astrocytoma; PTPN11

Indexed keywords

BEVACIZUMAB; CARBOPLATIN; GLIAL FIBRILLARY ACIDIC PROTEIN; TEMOZOLOMIDE; VINBLASTINE; VINCRISTINE; PROTEIN TYROSINE PHOSPHATASE SHP 2; PTPN11 PROTEIN, HUMAN;

ADOLESCENT; ARTICLE; CANCER CHEMOTHERAPY; CASE REPORT; CHEMOTHERAPY INDUCED NAUSEA AND VOMITING; CHILDHOOD CANCER; CRANIOTOMY; DRUG WITHDRAWAL; GENE DELETION; GENE SEQUENCE; HUMAN; MALE; MULTIPLE CYCLE TREATMENT; NOONAN SYNDROME; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTIC NERVE GLIOMA; OPTIC NERVE PILOMYXOID ASTROCYTOMA; PILOCYTIC ASTROCYTOMA; PRIORITY JOURNAL; PROTON THERAPY; TUMOR BIOPSY; VISUAL ACUITY; ASTROCYTOMA; COMPLICATION; GENETICS; MUTATION; OPTIC NERVE NEOPLASMS;

ADOLESCENT; ASTROCYTOMA; HUMANS; MALE; MUTATION; NOONAN SYNDROME; OPTIC NERVE NEOPLASMS; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 11;

EID: 84927912534     PISSN: 15455009     EISSN: 15455017     Source Type: Journal    
DOI: 10.1002/pbc.25382     Document Type: Article

References (19)

1. Noonan JA. Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease. Am J Dis Child 1968; 116:373-380.
2. Tartaglia M, Gelb B. Noonan syndrome and related disorders: genetics and pathogenesis. Annu rev Genom Human Genet 2005; 6:45-68.
3. Cizmarov M, Kostalova L, Pribilincova Z, Lasabova Z, Hlavata A, Kovacs L, Ilencikova D. Rasopathies-dysmorphic syndromes with short stature and risk of malignancy. Endocr Reg 2013; 47:217-222.
4. Jongmans MC, van der Burgt I, Hoogerbrugge PM, Noordam K, Yntema HG, Nillesen WM, Kuiper RP, Ligtenberg MJ, van Kessel AG, van Krieken JH, Kiemeney LA, Hoogerbrugge N. Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation. Eur J Hum Genet 2011; 19:870-874.
5. Lewis RA, Gerson LP, Axelson KA, Ricadi VM, Whitford RP. Von recklinghausen neurofibromatosis II. Incidence of optic gliomata Ophthalmology 1984; 91:929.
6. Ater JL, Zhou T, Holmes E, Mazewski CM, Booth TN, Freyer DR, Lazarus KH, Packer RJ, Prados M, Sposto R, Vezina G, Wisoff JH, Pollack IF. Randomized study of two chemotherapy regimens for treatment of low-grade glioma in young children: A report from the Childrens Oncology Group. J Clin Oncol 2012; 30:2641-2647.
7. Lafay-Cousin L, Holm S, Qaddoumi I, Nicolin G, Bartels U, Tabori U, Huang A, Boufett E. Weekly vinblastine in pediatric low-grade glioma patients with carboplatin allergy. Cancer 2005; 103:2636-2642.
8. Tartaglia M, Niemeyer CM, Fragale A, Song X, Buechner J, Jung A, Hahlen K, Hasle H, Licht JD, Gelb BD. Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. Nat Genet 2003; 34:148-150.
9. Tartaglia M, Martinelli S, Stella L, Bocchinfuso G, Flex E, Codeddu V, Zampino G, Burgt Iv, Palleschi A, Petrucci TC, Sorcini M, Schoch M, Foa R, Emanuel PD, Gelb BD. Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. Am J Hum Genet 2006; 78:279-290.
10. Pauli S, Steinemann D, Dittmann K, Wienands J, Shoukier M, Moschner M, Burfiend P, Manukjan G, Gohring G, Escherich G. Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with Noonan syndrome carrying the germline PTPNII mutation p.E139D. Am J Med Genet Part A 2012; 158A:652-658.
11. Fryssira H, Leventopoulos G, Psoni S, Kitsiou-Tzeli S, Stavrianeas N, Kanavakis E. Tumor development in three patients with Noonan syndrome. Eur J Pediatr 2008; 167:1025-1031.
12. Jongmans M, Otten B, Noordam K, van der Burgt I. Genetics and variation in phenotype in Noonan syndrome. Horm Res 2004; 62:56-59.
13. Schuettpelz LG, McDonald S, Whitesell K, Desruisseau DM, Grange DK, Gurnett CA, Wilson DB. Pilocytic astrocytoma in a child with noonan syndrome. Pediatr Blood Cancer 2009; 53:1147-1149.
14. Sherman CB, Ali-Nazir A, Gonzales-Gomez I, Finlay JL, Dhall G. Primary mixed glioneuronal tumor of the central nervous system in a patient with Noonan syndrome. J Pediatr Hematol Oncol 2009; 31:61-64.
15. Sanford RA, Bowman R, Tomita T, De Leon G, Palka P. A 16 year old male with Noonan's syndrome develops progressive scoliosis and deteriorating gait. Pediatr Neurosurg 1999; 30:47-52.
16. Marko NF, Weil RJ. The molecular biology of WHO grade II gliomas. Neurosurg Focus 2013; 34:E1.
17. Sharma MK, Zehnbauer BA, Watson M, Gutmann DH. RAS pathway activation and an oncogenic RAS mutation in sporadic pilocytic astrocytoma. Neurology 2005; 65:1335-1336.
18. Rodriguez FJ, Ligon AH, Horkayne-Szakaly I, Rushing EJ, Ligon KL, Vena N, Garcia DI, Cameron JD, Eberhart CJ. BRAF duplications and MAPK pathway alterations are frequent in gliomas of optic nerve proper. J Neuropathol Exp Neurol 2012; 71:789-794.
19. Lau N, Feldkamp MM, Roncari L, Loehr AH, Shannon P, Gutmann DH, Guha A et. Loss of neurofibromin is associated with activation of RAS/MAPK and PI3-K/AKT signalling in neurofibromatosis 1 astrocytoma. J Neuropathol Exp Neurol 2000; 59:759-767.