Publications récentes des membres du Centre PREDIR
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Maladie de von Hippel-Lindau
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Muller M, Hammel P, Couvelard A, Védie AL, Cros J, Burnichon N, Hercent A, Sauvanet A, Richard S, de Mestier L. Pancreatic neuroendocrine tumors in French VHL mutation carriers: a multicentric retrospective study. J Clin Endocrinol Metab. 2024 May 6:dgae310.

Mougel G, Mohamed A, Burnichon N, Giraud S, Pigny P, Bressac-de Paillerets B, Mirebeau-Prunier D, Buffet A, Savagner F, Romanet P, Arlot Y, Gardie B, Gimenez-Roqueplo AP, Beroud C, Richard S, Barlier A. Update of the UMD-VHL database: classification of 164 challenging variants based on genotype-phenotype correlation among 605 entries. J Med Genet. 2024 Mar 21;61(4):378-384.

​Villy MC, Frydman N, Moutou C, Thierry G, Raad J, Colas C, Steffann J, Metras J, Chabbert-Buffet N, Parc Y, Richard S, Benusiglio PR. Preimplantation genetic testing in patients with genetic susceptibility to cancer. Fam Cancer. 2023 Jan;22(1):119-125.

​Vibert R, Lahlou-Laforêt K, Samadi M, Krivosic V, Blanc T, Amar L, Burnichon N, Abadie C, Richard S, Gimenez-Roqueplo AP. Minors at risk of von Hippel-Lindau disease: 10 years' experience of predictive genetic testing and follow-up adherence. Eur J Hum Genet. 2022 Oct;30(10):1171-1177.

Jonasch E, Donskov F, Iliopoulos O, Rathmell WK, Narayan VK, Maughan BL, Oudard S, Else T, Maranchie JK, Welsh SJ, Thamake S, Park EK, Perini RF, Linehan WM, Srinivasan R; MK-6482-004 Investigators. Belzutifan for Renal Cell Carcinoma in von Hippel-Lindau Disease. N Engl J Med. 2021 Nov 25;385(22):2036-2046.​

Gad S, Le Teuff G, Nguyen B, Verkarre V, Duchatelle V, Molinié V, Posseme K, Grandon B, Da Costa M, Job B, Meurice G, Droin N, Mejean A, Couve S, Renaud F, Gardie B, Teh BT, Richard S, Ferlicot S. Involvement of PBRM1 in VHL disease-associated clear cell renal cell carcinoma and its putative relationship with the HIF pathway. Oncol Lett. 2021 Dec;22(6):835.

​Gardie B, Richard S. Prix Nobel de médecine 2019 : les découvreurs des mécanismes d’adaptation des cellules à la baisse d’oxygène récompensés. Rev Prat. 2020,70:17-19.

Buffet A, Calsina B, Flores S, Giraud S, Lenglet M, Romanet P, Deflorenne E, Aller J, Bourdeau I, Bressac-de Paillerets B, Calatayud M, Dehais C, De Mones Del Pujol E, Elenkova A, Herman P, Kamenický P, Lejeune S, Sadoul JL, Barlier A, Richard S, Favier J, Burnichon N, Gardie B, Dahia PL, Robledo M, Gimenez-Roqueplo AP. Germline mutations in the new E1' cryptic exon of the VHL gene in patients with tumours of von Hippel-Lindau disease spectrum or with paraganglioma. J Med Genet. 2020 Nov;57(11):752-759.

Coppin L, Plouvier P, Crépin M, Jourdain AS, Ait Yahya E, Richard S, Bressac-de Paillerets B, Cardot-Bauters C, Lejeune S, Leclerc J, Pigny P. Optimization of Next-Generation Sequencing Technologies for von Hippel-Lindau (VHL) mosaic mutation detection and development of confirmation methods. J Mol Diagn. 2019 May;21(3):462-470.

Gattolliat CH, Couvé S, Meurice G, Oréar C, Droin N, Chiquet M, Ferlicot S, Verkarre V, Vasiliu V, Molinié V, Méjean A, Dessen P, Giraud S, Bressac-De-Paillerets B, Gardie B, Tean Teh B, Richard S, Gad S. Integrative analysis of dysregulated microRNAs and mRNAs in multiple recurrent synchronized renal tumors from patients with von Hippel-Lindau disease. Int J Oncol. 2018 Oct;53(4):1455-1468

Lenglet M, Robriquet F, Schwarz K, Camps C, Couturier A, Hoogewijs D, Buffet A, Knight SJ, Gad S, Couvé S, Chesnel F, Pacault M, Lindenbaum P, Job S, Dumont S, Besnard T, Cornec M, Dreau H, Pentony M, Kvikstad E, Deveaux S, Burnichon N, Ferlicot S, Vilaine M, Mazzella JM, Airaud F, Garrec C, Heidet L, Irtan S, Mantadakis E, Bouchireb K, Debatin KM, Redon R, Bezieau S, Bressac-de Paillerets B, Teh BT, Girodon F, Randi ML, Putti MC, Bours V, Van Wijk R, Göthert JR, Kattamis A, Janin N, Bento C, Taylor JC, Arlot-Bonnemains Y, Richard S, Gimenez-Roqueplo AP, Cario H, Gardie B. New lessons from an old gene: complex splicing and a novel cryptic exon in VHL gene cause erythrocytosis and VHL disease. Blood. 2018 Aug 2;132(5):469-483.

David P, Messerer M, Aghakhani N, Benoudiba F, Adam C, Richard S, Parker F. Les hémangioblastomes intramédullaires. Neurochirurgie. 2017 Nov;63(5):366-371.

Oudard S, Elaidi R, Brizard M, Le Rest C, Caillet V, Deveaux S, Benoit G, Corréas JM, Benoudiba F, David P, Gaudric A, Hammel P, Joly D, Timsit MO, Méjean A, Richard S. Sunitinib for the treatment of benign and malignant neoplasms from von Hippel-Lindau disease: A single-arm, prospective phase II clinical study from the PREDIR group. Oncotarget. 2016 Dec 20;7(51):85306-85317.

Giammattei L, Messerer M, Aghakhani N, David P, Herbrecht A, Richard S, Parker F. Acta Neurochir (Wien). 2016 Jul;158(7):1333-41.

Nielsen SM, Rhodes l, Blanco I, Chung WK, Eng C, Maher ER, Richard S, Giles RH. Von Hippel-Lindau disease: genetics and role of genetic counseling in a Multiple Neoplasia Syndrome. J Clin Oncol. 2016 Jun 20;34(18):2172-81.

Krivosic C, Kamami-Levy C, Jacob J, Tadayoni R, Richard S, Gaudric A. Laser photocoagulation for peripheral retinal capillary hemangioblastoma in von Hippel-Lindau disease. Ophthalmol. Retina, 2016 Jan ;1(1): 59-67.

Bausch B, Wellner U, Peyre M, Boedeker CC, Hes FJ, Anglani M, de Campos JM, Kanno H, Maher ER, Krauss T, Sansó G, Barontini M, Letizia C, Hader C, Schiavi F, Zanoletti E, Suárez C, Offergeld C, Malinoc A, Zschiedrich S, Glasker S, Bobin S, Sterkers O, Ba Huy PT, Giraud S, Links T, Eng C, Opocher G, Richard S, Neumann HP; International Endolymphatic Sac Tumor (ELST) Consortium. Characterization of endolymphatic sac tumors and von Hippel-Lindau disease in the International Endolymphatic Sac Tumor Registry. Head Neck. 2015 Apr 13. abstract​

Couvé S, Ladroue C, Laine E, Mahtouk K, Guégan J, Gad S, Le Jeune H, Le Gentil M, Nuel G, Kim WY, Lecomte B, Pagès JC, Collin C, Lasne F, Benusiglio PR, Bressac-de Paillerets B, Feunteun J, Lazar V, Gimenez-Roqueplo AP, Mazure NM, Dessen P, Tchertanov L, Mole DR, Kaelin W, Ratcliffe P, Richard S, Gardie B. Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis. Cancer Res. 2014 Nov 15;74(22):6554-64. Epub 2014 Nov 4. abstract

De Mestier L, Gaujoux S, Cros J, Hentic O, Vullierme MP, Couvelard A, Cadiot G, Sauvanet A, Ruszniewski P, Richard S, Hammel P. Long-term Prognosis of Resected Pancreatic Neuroendocrine Tumors in von Hippel-Lindau disease Is favorable and not influenced by small tumors left in place. Ann Surg. 2014 Sep 1. [Epub ahead of print] abstract

Nevoux J, Nowak C, Vellin JF, Lepajolec C, Sterkers O, Richard S, Bobin S. Management of endolymphatic sac tumors: sporadic cases and von Hippel-Lindau disease. Otol Neurotol. 2014 Jun;35(5):899-904. abstract

Richard S, Gardie B, Couvé S, Gad S. Von Hippel-Lindau: how a rare disease illuminates cancer biology. Semin Cancer Biol. 2013 Feb;23(1):26-37. abstract

Maher ER, Neumann HP, Richard S. von Hippel-Lindau disease: a clinical and scientific review. Eur J Hum Genet. 2011 Jun;19(6):617-23. abstract

Joly D, Méjean A, Corréas Jm, Timsit Mo, Verkarre V, Deveaux S, Landais P, Grünfeld JP, Richard S. Progress in nephron sparing therapy for renal cell carcinoma and von Hippel-Lindau disease. J Urol. 2011 Jun;185(6):2056-60. abstract

Syndrome de Birt-Hogg-Dubé

Geilswijk M, Genuardi M, Woodward ER, Nightingale K, Huber J, Madsen MG, Liekelema-van der Heij D, Lisseman I, Marlé-Ballangé J, McCarthy C, Menko FH, Moorselaar RJAV, Radzikowska E, Richard S, Rajan N, Sommerlund M, Wetscherek MTA, Di Donato N, Maher ER, Brunet J. ERN GENTURIS clinical practice guidelines for the diagnosis, surveillance and management of people with Birt-Hogg-Dubé syndrome. Eur J Hum Genet. 2024 Jul 31.

Bodard S, Boudhabhay I, Dariane C, Delavaud C, Guinebert S, Joly D, Timsit MO, Méjean A, Verkarre V, Hélénon O, Richard S, Correas JM. Percutaneous Thermal Ablation for Renal Tumors in Patients with Birt-Hogg-Dubé Syndrome. Cancers (Basel). 2022 Oct 11;14(20):4969.

Benusiglio PR. The Birt-Hogg-Dugé cancer predisposition syndrome: Current challenges. Intractable Rare Dis Res. 2015 Aug;4(3):162-3. abstract

Benusiglio PR, Giraud S, Deveaux S, Méjean A, Correas JM, Joly D, Timsit MO, Ferlicot S, Verkarre V, Abadie C, Chauveau D, Leroux D, Avril MF, Cordier JF, Richard S; French National Cancer Institute Inherited Predisposition to Kidney Cancer Network. Renal cell tumour characteristics in patients with the Birt-Hogg-Dubé cancer susceptibility syndrome: a retrospective, multicentre study. Orphanet J Rare Dis. 2014 Oct 29;9:163. abstract

Benusiglio PR, Gad S, Massard C, Carton E, Longchampt E, Faudot T, Lamoril J, Ferlicot S. Case Report: Expanding the tumour spectrum associated with the Birt-Hogg-Dubé cancer susceptibility syndrome. F1000Res. 2014 Jul 11;3:159. abstract

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Léiomyomatose héréditaire avec cancer rénal

Carril-Ajuria L, Colomba E, Cerbone L, Romero-Ferreiro C, Crouzet L, Laguerre B, Thibault C, Vicier C, de Velasco G, Fléchon A, Saldana C, Benusiglio PR, Bressac-de Paillerets B, Guillaud-Bataille M, Gaignard P, Scoazec JY, Richard S, Caron O, Escudier B, Albiges L. Response to systemic therapy in fumarate hydratase-deficient renal cell carcinoma. Eur J Cancer. 2021 Jul;151:106-114.

Muller M, Guillaud-Bataille M, Salleron J, Genestie C, Deveaux S, Slama A, de Paillerets BB, Richard S, Benusiglio PR, Ferlicot S. Pattern multiplicity and fumarate hydratase (FH)/S-(2-succino)-cysteine (2SC) staining but not eosinophilic nucleoli with perinucleolar halos differentiate hereditary leiomyomatosis and renal cell carcinoma-associated renal cell carcinomas from kidney tumors without FH gene alteration. Mod Pathol. 2018 Jun;31(6):974-983. abstract

Muller M, Ferlicot S, Guillaud-Bataille M, Le Teuff G, Genestie C, Deveaux S, Slama A, Poulalhon N, Escudier B, Albiges L, Soufir N, Avril MF, Gardie B, Saldana C, Allory Y, Gimenez-Roqueplo AP, Bressac-de Paillerets B, Richard S, Benusiglio PR. Reassessing the clinical spectrum associated with hereditary leiomyomatosis and renal cell carcinoma syndrome in French FH mutation carriers. Clin Genet. 2017 Dec;92(6):606-615.

Perrier-Trudova V, Huimin BW, Kongpetch S, Huang D, Ong P, Le Formal A, Poon SL, Siew EY, Myint SS, Gad S, Gardie B, Couvé S, Foong YM, Choudhury Y, Poh J, Ong CK, Toh CK, Ooi A, Richard S, Tan MH, Teh BT. Fumarate Hydratase-deficient Cell Line NCCFH1 as a New In Vitro Model of Hereditary Papillary Renal Cell Carcinoma Type 2. Anticancer Res. 2015 Dec;35(12):6639-53.

Menko FH, Maher ER, Schmidt LS, Middelton LA, Aittomäki K, Tomlinson I, Richard S, Linehan WM. Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment. Fam Cancer. 2014 Dec;13(4):637-44.1. abstract

Gardie B, Remenieras A, Kattygnarath D, Bombled J, Lefèvre S, Perrier-Trudova V, Rustin P, Barrois M, Slama A, Avril Mf, Bessis D, Caron O, Caux F, Collignon P, Coupier I, Cremin C, Dollfus H, Dugast C, Escudier B, Faivre L, Field M, Gilbert-Dussardier B, Janin N, Leport Y, Leroux D, Lipsker D, Malthieu F, Mcgilliwray B, Maugard C, Méjean A, Mortemousque I, Plessis G, Poppe B, Pruvost-Balland C, Rooker S, Roume J, Soufir N, Steinraths M, Tan Mh, Théodore C, Thomas L, Vabres P, Van Glabeke E, Meric Jb, Verkarre V, Lenoir G, Joulin V, Deveaux S, Cusin V, Feunteun J, Teh Bt, Bressac-De Paillerets B, Richard S. Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma. J Med Genet. 2011 Apr;48(4):226-34. Erratum in: J Med Genet. 2011 Aug;48(8):576. abstract

Cancer rénal papillaire de type 1 héréditaire

Sebai M, Tulasne D, Caputo SM, Verkarre V, Fernandes M, Guérin C, Reinhart F, Adams S, Maugard C, Caron O, Guillaud-Bataille M, Berthet P, Bignon YJ, Bressac-de Paillerets B, Burnichon N, Chiesa J, Giraud S, Lejeune S, Limacher JM, de Pauw A, Stoppa-Lyonnet D, Zattara-Cannoni H, Deveaux S, Lidereau R, Richard S, Rouleau E. Novel germline MET pathogenic variants in French patients with papillary renal cell carcinomas type I. Hum Mutat. 2022 Mar;43(3):316-327.

Ferlicot S, Just PA, Compérat E, Rouleau E, Tissier F, Vaessen C, Richard S. Clear cell and papillary renal cell carcinomas in hereditary papillary renal cell carcinoma (HPRCC) syndrome: a case report. Diagn Pathol. 2021 Nov 20;16(1):107.

​Denize T, Just PA, Sibony M, Blons H, Timsit MO, Drossart T, Jakubowicz D, Broudin C, Morini A, Molina T, Vano Y, Auvray-Kuentz M, Richard S, Mejean A, Gimenez Roqueplo AP, Burnichon N, Verkarre V. MET alterations in biphasic squamoid alveolar papillary renal cell carcinomas and clinicopathological features. Mod Pathol. 2021 Mar;34(3):647-659.

​Hwang JW, Desterke C, Féraud O, Richard S, Ferlicot S, Verkarre V, Patard JJ, Loisel-Duwattez J, Foudi A, Griscelli F, Bennaceur-Griscelli A, Turhan AG. iPSC-Derived Embryoid Bodies as Models of c-Met-Mutated Hereditary Papillary Renal Cell Carcinoma. Int J Mol Sci. 2019 Sep 30;20(19).

Chartier S, Méjean A, Richard S, Thiounn N, Vasiliu V, Verkarre V. Biphasic squamoid alveolar Renal Cell Carcinoma: 2 cases in a family supporting a continuous spectrum with Papillary Type I Renal Cell Carcinoma. Am J Surg Pathol. 2017 Jul;41(7):1011-1012.

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Cancer rénal à cellules claires familial

Bories C, Lejour T, Adolphe F, Kermasson L, Couvé S, Tanguy L, Luszczewska G, Watzky M, Garnier P, Groisman R, Ferlicot S, Richard S, Saparbaev M, Revy P, Gad S, Renaud F. DCLRE1B/Apollo mutations impair its telomere protective activity in renal cell carcinoma. Biochim Biophys Acta Mol Basis Dis. 2024 Apr;1870(4):167107.

Adolphe F, Ferlicot S, Verkarre V, Posseme K, Couvé S, Garnier P, Droin N, Deloger M, Job B, Giraud S, Paillerets BB, Gardie B, Richard S, Renaud F, Gad S. Germline mutation in the NBR1 gene involved in autophagy detected in a family with renal tumors. Cancer Genet. 2021 Nov;258-259:51-56.

​Benusiglio PR, Couvé S, Gilbert-Dussardier B, Deveaux S, Le Jeune H, Da Costa M, Fromont G, Memeteau F, Yacoub M, Coupier I, Leroux D, Méjean A, Escudier B, Giraud S, Gimenez-Roqueplo AP, Blondel C, Frouin E, Teh BT, Ferlicot S, Bressac-de Paillerets B, Richard S, Gad S. A germline mutation in PBRM1 predisposes to renal cell carcinoma. J Med Genet. 2015 Jun;52(6):426-30. abstract

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Prédispositions héréditaires au cancer rénal en général

Verkarre V, Morini A, Denize T, Ferlicot S, Richard S. Les cancers du rein héréditaires vus par le pathologiste en 2020. Ann Pathol. 2020 Mar 17.

Beaugerie A, Verkarre V, Audenet F, Le Guilchet T, Hurel S, Richard S, Corréas JM, Fontaine E, Méjean A, Timsit MO. [Cancer genetic screening for patient with multiple renal tumors: What is the current practice for what results?].Prog Urol. 2016 Jun;26(8):442-9.

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