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5. Cerebral dural arteriovenous fistulas in patients with PTEN-related hamartoma tumor syndrome.

Author

Gerasimenko A, Mignot C, Naggara O, Coulet F, Ekram S, Heide S, Sorato C, Mazowiecki M, Perrin L, Colas C, Cusin V, Caux F, Dardenne A, El Chehadeh S, Verloes A, Maurey H, Afenjar A, Petit F, Barete S, Boespflug-Tanguy O, Bourrat E, Capri Y, Ciorna V, Deb W, Doummar D, Perrier A, Guédon A, Houdart E, Isidor B, Jacquemont ML, Buffet C, Mercier S, Passemard S, Riquet A, Ruaud L, Schaefer E, Heron D, Bisdorff A, and Benusiglio PR

Subjects
Humans, Adult, Female, Male, Young Adult, Magnetic Resonance Imaging, Mutation, PTEN Phosphohydrolase genetics, Central Nervous System Vascular Malformations genetics, Central Nervous System Vascular Malformations complications, Central Nervous System Vascular Malformations diagnostic imaging, Central Nervous System Vascular Malformations diagnosis, Hamartoma Syndrome, Multiple genetics, Hamartoma Syndrome, Multiple complications
Abstract

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., (© 2024 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.)

Published
2024
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