Cerebral dural arteriovenous fistulas in ...
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Article dans une revue scientifique: Article original
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Title :
Cerebral dural arteriovenous fistulas in patients with PTEN-related hamartoma tumor syndrome.
Author(s) :
Gerasimenko, A. [Auteur]
Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute [ICM]
Mignot, C. [Auteur]
Institut du Cerveau = Paris Brain Institute [ICM]
Naggara, O. [Auteur]
Coulet, F. [Auteur]
Ekram, S. [Auteur]
Heide, S. [Auteur]
Sorato, C. [Auteur]
Mazowiecki, M. [Auteur]
Perrin, L. [Auteur]
Colas, C. [Auteur]
Cusin, V. [Auteur]
Caux, F. [Auteur]
Dardenne, A. [Auteur]
El Chehadeh, S. [Auteur]
Verloes, A. [Auteur]
Maurey, H. [Auteur]
Afenjar, A. [Auteur]
Petit, Florence [Auteur]
Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364
Barete, S. [Auteur]
Boespflug-Tanguy, O. [Auteur]
Bourrat, E. [Auteur]
Capri, Y. [Auteur]
Ciorna, V. [Auteur]
Deb, W. [Auteur]
Doummar, D. [Auteur]
Perrier, A. [Auteur]
Guédon, A. [Auteur]
Houdart, E. [Auteur]
Isidor, B. [Auteur]
Jacquemont, M. L. [Auteur]
Buffet, C. [Auteur]
Mercier, S. [Auteur]
Passemard, S. [Auteur]
Riquet, A. [Auteur]
Ruaud, L. [Auteur]
Schaefer, E. [Auteur]
Heron, D. [Auteur]
Bisdorff, A. [Auteur]
CHU Trousseau [APHP]
Benusiglio, P. R. [Auteur]
Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute [ICM]
Mignot, C. [Auteur]
Institut du Cerveau = Paris Brain Institute [ICM]
Naggara, O. [Auteur]
Coulet, F. [Auteur]
Ekram, S. [Auteur]
Heide, S. [Auteur]
Sorato, C. [Auteur]
Mazowiecki, M. [Auteur]
Perrin, L. [Auteur]
Colas, C. [Auteur]
Cusin, V. [Auteur]
Caux, F. [Auteur]
Dardenne, A. [Auteur]
El Chehadeh, S. [Auteur]
Verloes, A. [Auteur]
Maurey, H. [Auteur]
Afenjar, A. [Auteur]
Petit, Florence [Auteur]
![refId](/themes/Mirage2//images/idref.png)
Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364
Barete, S. [Auteur]
Boespflug-Tanguy, O. [Auteur]
Bourrat, E. [Auteur]
Capri, Y. [Auteur]
Ciorna, V. [Auteur]
Deb, W. [Auteur]
Doummar, D. [Auteur]
Perrier, A. [Auteur]
Guédon, A. [Auteur]
Houdart, E. [Auteur]
Isidor, B. [Auteur]
Jacquemont, M. L. [Auteur]
Buffet, C. [Auteur]
Mercier, S. [Auteur]
Passemard, S. [Auteur]
Riquet, A. [Auteur]
Ruaud, L. [Auteur]
Schaefer, E. [Auteur]
Heron, D. [Auteur]
Bisdorff, A. [Auteur]
CHU Trousseau [APHP]
Benusiglio, P. R. [Auteur]
Journal title :
Clinical Genetics
Abbreviated title :
Clin Genet
Volume number :
106
Pages :
90-94
Publisher :
Wiley
Publication date :
2024-02-29
ISSN :
1399-0004
English keyword(s) :
cancer genetics
cerebrovascular disorders
Cowden syndrome
DAVF
dural fistula
genetic predisposition to disease
MRI
PHTS
PTEN
cerebrovascular disorders
Cowden syndrome
DAVF
dural fistula
genetic predisposition to disease
MRI
PHTS
PTEN
HAL domain(s) :
Sciences du Vivant [q-bio]
English abstract : [en]
Central nervous system (CNS) dural arteriovenous fistulas (DAVF) have been reported in PTEN-related hamartoma tumor syndrome (PHTS). However, PHTS-associated DAVF remain an underexplored field of the PHTS clinical landscape. ...
Show more >Central nervous system (CNS) dural arteriovenous fistulas (DAVF) have been reported in PTEN-related hamartoma tumor syndrome (PHTS). However, PHTS-associated DAVF remain an underexplored field of the PHTS clinical landscape. Here, we studied cases with a PTEN pathogenic variant identified between 2007 and 2020 in our laboratory (n = 58), and for whom brain imaging was available. Two patients had DAVF (2/58, 3.4%), both presenting at advanced stages: a 34-year-old man with a left lateral sinus DAVF at immediate risk of hemorrhage, and a 21-year-old woman with acute intracranial hypertension due to a torcular DAVF. Interestingly, not all patients had 3D TOF/MRA, the optimal sequences to detect DAVF. Early diagnosis of DAVF can be lifesaving, and is easier to treat compared to developed, proliferative, or complex lesions. As a result, one should consider brain MRI with 3D TOF/MRA in PHTS patients at genetic diagnosis, with subsequent surveillance on a case-by-case basis.Show less >
Show more >Central nervous system (CNS) dural arteriovenous fistulas (DAVF) have been reported in PTEN-related hamartoma tumor syndrome (PHTS). However, PHTS-associated DAVF remain an underexplored field of the PHTS clinical landscape. Here, we studied cases with a PTEN pathogenic variant identified between 2007 and 2020 in our laboratory (n = 58), and for whom brain imaging was available. Two patients had DAVF (2/58, 3.4%), both presenting at advanced stages: a 34-year-old man with a left lateral sinus DAVF at immediate risk of hemorrhage, and a 21-year-old woman with acute intracranial hypertension due to a torcular DAVF. Interestingly, not all patients had 3D TOF/MRA, the optimal sequences to detect DAVF. Early diagnosis of DAVF can be lifesaving, and is easier to treat compared to developed, proliferative, or complex lesions. As a result, one should consider brain MRI with 3D TOF/MRA in PHTS patients at genetic diagnosis, with subsequent surveillance on a case-by-case basis.Show less >
Language :
Anglais
Audience :
Internationale
Popular science :
Non
Administrative institution(s) :
Université de Lille
CHU Lille
CHU Lille
Collections :
Submission date :
2024-05-06T23:17:10Z
2024-06-19T09:51:48Z
2024-06-19T09:51:48Z
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