Cerebral dural arteriovenous fistulas in patients with PTEN ‐related hamartoma tumor syndrome

Anna Gerasimenko (1, 2, 3) , Cyril Mignot (1, 2) , Olivier Naggara (4) , Florence Coulet (5, 2, 6, 7) , Samar Ekram (8) , Solveig Heide (2) , Clarisse Sorato (2) , Maxime Mazowiecki (2) , Chrystelle Colas (9, 10) , Veronica Cusin (2) , Frédéric Caux (11) , Antoine Dardenne (12) , Salima El Chehadeh (13) , Alain Verloes (14) , Hélène Maurey (15) , Alexandra Afenjar (1) , Florence Petit (16) , Stéphane Barete (2) , Odile Boespflug-Tanguy (14) , Emmanuelle Bourrat (17) , Yline Capri (18) , Viorica Ciorna (19) , Wallid Deb (20, 21) , Diane Doummar (1, 22) , Alexandre Perrier (5, 2) , Alexis Guédon (23) , Emmanuel Houdart (24) , Bertrand Isidor (21, 20) , Marie‐line Jacquemont (25) , Camille Buffet (26, 27) , Sandra Mercier (21, 20) , Sandrine Passemard (14) , Audrey Riquet (28, 29) , Lyse Ruaud (14, 18) , Elise Schaefer (30, 31) , Delphine Heron (2, 32) , Annouk Bisdorff (24) , Patrick R Benusiglio (5, 2, 6, 7, 12)

1 CHU Trousseau [APHP]
2 CHU Pitié-Salpêtrière [AP-HP]
3 ICM - Institut du Cerveau = Paris Brain Institute
4 Service de neuroradiologie [Paris]
5 IUC - Institut Universitaire de Cancérologie [Sorbonne Université]
6 CRSA - Centre de Recherche Saint-Antoine
7 SiRIC CURAMUS - Site de recherche intégrée en cancérologie
8 Umm Al-Qura University
9 Institut Curie [Paris]
10 U830 - Unité de génétique et biologie des cancers
11 Service de dermatologie [Avicenne]
12 CHU Saint-Antoine [AP-HP]
13 IGBMC - Institut de Génétique et de Biologie Moléculaire et Cellulaire
14 NeuroDiderot (UMR_S_1141 / U1141) - Maladies neurodéveloppementales et neurovasculaires
15 Hôpital Bicêtre [AP-HP, Le Kremlin-Bicêtre]
16 RADEME - Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364
17 AP-HP - Hopital Saint-Louis [AP-HP]
18 Hôpital Robert Debré
19 CHR de Metz-Thionville
20 Institut du Thorax [Nantes]
21 CHU Nantes - Centre Hospitalier Universitaire de Nantes
22 SU - Sorbonne Université
23 iPLESP - Institut Pierre Louis d'Epidémiologie et de Santé Publique
24 Hôpital Lariboisière-Fernand-Widal [APHP]
25 CHU Sainte Justine [Montréal]
26 GRC 16 - GRC-TT - Groupe de recherche clinique Tumeurs Thyroïdiennes
27 AP-HP - Assistance publique - Hôpitaux de Paris (AP-HP)
28 Centre de référence des maladies rares neuromusculaires
29 Hôpital Roger Salengro [Lille]
30 Service de génétique médicale
31 CHU Strasbourg - Centre Hospitalier Universitaire [Strasbourg]
32 Centre de Référence Déficiences Intellectuelles de causes rares / Rare Disease Reference Center for Intellectual Disability [CHU Robert Debré, AP-HP]

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.

Mots clés: cancer genetics; cerebrovascular disorders; Cowden syndrome; DAVF; dural fistula; genetic predisposition to disease; MRI; PHTS; PTEN

Domaines: Génétique humaine; Cancer; Imagerie

Anna Gerasimenko, Cyril Mignot, Olivier Naggara, Florence Coulet, Samar Ekram, et al.. Cerebral dural arteriovenous fistulas in patients with PTEN ‐related hamartoma tumor syndrome. Clinical Genetics, 2024, ⟨10.1111/cge.14515⟩. ⟨hal-04487772⟩