Low-Grade Gliomas in Patients with Noonan Syndrome: Case-Based Review of the Literature.
Noonan syndrome
cancer predisposition
everolimus
mTOR signaling
pediatric brain tumor
Journal
Diagnostics (Basel, Switzerland)
ISSN: 2075-4418
Titre abrégé: Diagnostics (Basel)
Pays: Switzerland
ID NLM: 101658402
Informations de publication
Date de publication:
12 Aug 2020
12 Aug 2020
Historique:
received:
19
07
2020
revised:
08
08
2020
accepted:
10
08
2020
entrez:
19
8
2020
pubmed:
19
8
2020
medline:
19
8
2020
Statut:
epublish
Résumé
Noonan syndrome (NS) is a congenital autosomic dominant condition characterized by a variable spectrum from a clinical and genetical point of view. Germline mutations in more than ten genes involved in RAS-MAPK signal pathway have been demonstrated to cause the disease. An higher risk for leukemia and solid malignancies, including brain tumors, is related to NS. A review of the published literature concerning low grade gliomas (LGGs) in NS is presented. We described also a 13-year-old girl with NS associated with a recurrent mutation in
Identifiants
pubmed: 32806529
pii: diagnostics10080582
doi: 10.3390/diagnostics10080582
pmc: PMC7460327
pii:
doi:
Types de publication
Case Reports
Langues
eng
Références
Eur J Pediatr. 2008 Sep;167(9):1025-31
pubmed: 18057963
Blood. 2004 Mar 15;103(6):2325-31
pubmed: 14644997
Pediatr Blood Cancer. 2009 Dec;53(6):1147-9
pubmed: 19621452
Leukemia. 2017 Jun;31(6):1415-1422
pubmed: 27840422
Pediatr Blood Cancer. 2019 May;66(5):e27625
pubmed: 30693642
Eur J Hum Genet. 2011 Aug;19(8):870-4
pubmed: 21407260
Cancer Res. 1989 Sep 1;49(17):4682-9
pubmed: 2547513
Calcif Tissue Int. 2000 Mar;66(3):200-3
pubmed: 10666495
Pediatr Neurosurg. 1999 Jan;30(1):47-52
pubmed: 10202309
Clin Genet. 2015 Dec;88(6):516-22
pubmed: 25683281
Am J Med Genet A. 2017 Apr;173(4):1061-1065
pubmed: 28328117
Oncogene. 2008 Jun 5;27(25):3508-15
pubmed: 18223690
Klin Padiatr. 2019 May;231(3):107-135
pubmed: 31108561
Childs Nerv Syst. 2001 Sep;17(9):503-11
pubmed: 11585322
Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):161-79
pubmed: 21396583
Am J Med Genet A. 2006 Apr 1;140(7):740-6
pubmed: 16523510
Neuropathol Appl Neurobiol. 2018 Dec;44(7):687-706
pubmed: 29478280
Mol Syndromol. 2011 Sep;1(6):282-289
pubmed: 22190897
Lancet. 2013 Jan 12;381(9861):125-32
pubmed: 23158522
J Pediatr Hematol Oncol. 2009 Jan;31(1):61-4
pubmed: 19125092
Am J Hum Genet. 2006 Feb;78(2):279-90
pubmed: 16358218
Nat Genet. 2001 Dec;29(4):465-8
pubmed: 11704759
J Neurosurg Pediatr. 2014 Jan;13(1):1-12
pubmed: 24138145
Am J Hum Genet. 2010 Aug 13;87(2):250-7
pubmed: 20619386
Pediatr Blood Cancer. 2015 Jun;62(6):1084-6
pubmed: 25585602
Am J Med Genet C Semin Med Genet. 2011 May 15;157C(2):83-9
pubmed: 21500339
Am J Med Genet A. 2016 Jan;170A(1):195-201
pubmed: 26377682
Lancet. 2013 Jan 26;381(9863):333-42
pubmed: 23312968
Br J Cancer. 2015 Apr 14;112(8):1392-7
pubmed: 25742478
Br J Dermatol. 2019 Jun;180(6):1438-1448
pubmed: 30417923
Cancer Res. 2004 Dec 15;64(24):8816-20
pubmed: 15604238
Horm Res Paediatr. 2017;88(6):423-426
pubmed: 28746941
Br J Haematol. 2005 May;129(3):333-9
pubmed: 15842656
Clin Neuropathol. 2011 Nov-Dec;30(6):297-300
pubmed: 22011734
BMC Med Genet. 2020 Mar 12;21(1):50
pubmed: 32164556
Clin Cancer Res. 2017 Jun 15;23(12):e83-e90
pubmed: 28620009
N Engl J Med. 2010 Nov 4;363(19):1801-11
pubmed: 21047224
Cancer Genet Cytogenet. 2006 Apr 15;166(2):124-9
pubmed: 16631468