Article (Scientific journals)
Oligo-astrocytoma in LZTR1-related Noonan syndrome.
JACQUINET, Adeline; Bonnard, Adeline; Capri, Yline et al.
2019In European Journal of Medical Genetics, 63 (1), p. 103617
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Keywords :
Glioma; Growth hormone therapy; LZTR1; Noonan syndrome
Abstract :
[en] Mutations in LZTR1, already known to be causal in familial schwannomatosis type 2, have been recently involved in a small proportion of patients with autosomal dominant and autosomal recessive Noonan syndrome. LZTR1 is also a driver gene in non syndromal glioblastoma. We report a 26-year-old patient with typical Noonan syndrome, and the dominantly transmitted c.850C>T (p.(Arg284Cys)) variant in LZTR1. An oligoastrocytoma was diagnosed in the patient at the age of 22 years; recurrence of the tumor occurred at age 26, as a ganglioblastoma. The patient had been transiently treated with growth hormone between ages 15 and 17. Considering the implication of LZTR1 in sporadic tumors of the nervous system, we hypothesize that gliomas are a possible complication of LZTR1-related Noonan syndrome. This report also supports a possible link between occurrence of a cerebral tumor in Noonan syndrome and a previous treatment with growth hormone.
Disciplines :
Genetics & genetic processes
Author, co-author :
JACQUINET, Adeline ;  Centre Hospitalier Universitaire de Liège - CHU > Unilab > Service de génétique
Bonnard, Adeline
Capri, Yline
Martin, Didier  ;  Université de Liège - ULiège > Département des sciences cliniques > Neurochirurgie
Sadzot, Bernard ;  Université de Liège - ULiège > Département des sciences cliniques > Département des sciences cliniques
Bianchi, Elettra ;  Université de Liège - ULiège > Département des sciences biomédicales et précliniques > Département des sciences biomédicales et précliniques
Servais, Laurent ;  Université de Liège - ULiège > Département des sciences cliniques > Neuropédiatrie
SACRE, Jean-Paul ;  Centre Hospitalier Universitaire de Liège - CHU > Département de Pédiatrie > Service de pédiatrie
Cave, Helene
Verloes, Alain
Language :
English
Title :
Oligo-astrocytoma in LZTR1-related Noonan syndrome.
Publication date :
January 2019
Journal title :
European Journal of Medical Genetics
ISSN :
1769-7212
eISSN :
1878-0849
Publisher :
Elsevier, Netherlands
Volume :
63
Issue :
1
Pages :
103617
Peer reviewed :
Peer Reviewed verified by ORBi
Commentary :
Copyright (c) 2019. Published by Elsevier Masson SAS. Epub 2019 Jan 19
Available on ORBi :
since 14 May 2019

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