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Oligo-astrocytoma in LZTR1-related Noonan syndrome.

Authors
  • Jacquinet, Adeline1
  • Bonnard, Adeline2
  • Capri, Yline2
  • Martin, Didier3
  • Sadzot, Bernard4
  • Bianchi, Elettra5
  • Servais, Laurent6
  • Sacré, Jean-Paul6
  • Cavé, Hélène7
  • Verloes, Alain8
  • 1 Department of Genetics, Sart Tilman University Hospital, Belgium. , (Belgium)
  • 2 Department of Genetics, APHP-Robert DEBRE University Hospital, Denis Diderot School of Medicine, Paris University, France. , (France)
  • 3 Department of Neurosurgery, Sart Tilman University Hospital, Belgium. , (Belgium)
  • 4 Department of Anatomopathology, Sart Tilman University Hospital, Belgium. , (Belgium)
  • 5 Department of Oncology, Sart Tilman University Hospital, Belgium. , (Belgium)
  • 6 Department of Pediatrics, Citadelle University Hospital, Liège, Belgium. , (Belgium)
  • 7 Department of Genetics, APHP-Robert DEBRE University Hospital, Denis Diderot School of Medicine, Paris University, France; INSERM UMR 1131, Institut Universitaire d'Hématologie, Paris, France. , (France)
  • 8 Department of Genetics, APHP-Robert DEBRE University Hospital, Denis Diderot School of Medicine, Paris University, France; INSERM UMR1141, Paris, France. Electronic address: [email protected] , (France)
Type
Published Article
Journal
European journal of medical genetics
Publication Date
Jan 01, 2020
Volume
63
Issue
1
Pages
103617–103617
Identifiers
DOI: 10.1016/j.ejmg.2019.01.007
PMID: 30664951
Source
Medline
Keywords
Language
English
License
Unknown

Abstract

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. Copyright © 2019. Published by Elsevier Masson SAS.

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