{"id":3352,"date":"2023-06-19T18:33:04","date_gmt":"2023-06-19T16:33:04","guid":{"rendered":"https:\/\/cerenef.org\/?page_id=3352"},"modified":"2026-03-17T15:53:02","modified_gmt":"2026-03-17T14:53:02","slug":"publications","status":"publish","type":"post","link":"https:\/\/cerenef.org\/en\/publications\/","title":{"rendered":"Publications"},"content":{"rendered":"
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Find the main publications of CERENEF on this page.<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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High frequency of mosaic NF2-related schwannomatosis diagnosed after somatic analysis of multi-nodular schwannomas in schwannomatosis patients <\/a>
Matthieu Peyre, C\u00e9cile Barbance, Suzanne Tran , Laurence Pacot , Beno\u00eet Terris , Michel Kalamarides , B\u00e9atrice Parfait<\/em>
PMID: 41824074 DOI: 10.1007\/s00439-026-02825-6<\/em> <\/p>

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Prevalence, natural history and surgical outcome of spinal meningiomas in NF2-related schwannomatosis<\/a>
Louise Deboeuf , Antoine Keraudy, Thiebaud Picart, Giorgio Haddad , Imen Bernaoui, Samiya Abi Jaoude, Nozar Aghakhani, Fran\u00e7ois Ducray, Timoth\u00e9e Jacquesson, David Meyronet, C\u00e9dric Y Barrey, Emmanuel Jouanneau, Michel Kalamarides , Rabih Aboukais, Matthieu Peyre<\/em>
PMID: 40958044 DOI: 10.1007\/s11060-025-05231-6<\/em><\/p>

Comprehensive approach of executive functions in children with neurofibromatosis type 1<\/a>
Alice P Chen , Geraldine O’Sullivan Coyne, Pamela L Wolters, Staci Martin , Said Farschtschi, Ignacio Blanco, Zhongping Chen, Luiz Guilherme Darrigo Jr, Marica Eoli, James R Whittle, Yoshihiro Nishida, Rosa Lamarca, Randolph de la Rosa Rodriguez, Ayo Adeyemi, Idoia Herrero, Nereida Llorente, Scott J Diede, Eva Dombi, Pierre Wolkenstein ; KOMET study investigators
Neuropsychology. 2025; 39(4):332-346<\/p>

Efficacy and safety of selumetinib in adults with neurofibromatosis type 1 and symptomatic, inoperable plexiform neurofibromas (KOMET): a multicentre, international, randomised, placebo-controlled, parallel, double-blind, phase 3 study<\/a>
Alice P Chen , Geraldine O’Sullivan Coyne, Pamela L Wolters, Staci Martin , Said Farschtschi, Ignacio Blanco, Zhongping Chen, Luiz Guilherme Darrigo Jr, Marica Eoli, James R Whittle, Yoshihiro Nishida, Rosa Lamarca, Randolph de la Rosa Rodriguez, Ayo Adeyemi, Idoia Herrero, Nereida Llorente, Scott J Diede, Eva Dombi, Pierre Wolkenstein ; KOMET study investigators<\/em>
Lancet. 2025 Jun 21;405(10496):2217-2230.<\/em><\/p>

Correlation between natural history and multi-omics profiling of meningiomas in NF2-related schwannomatosis suggests role of methylation group and immune microenvironment in tumor growth rate<\/a>
Yu Teranishi , Andrey Yurchenko , Suzanne Tran, Philipp Sievers, Fatemeh Rajabi\u00a0 3 , Singhabahu Ruchith, Samiya Abi-Jaoude, Antoine Blouin, Franck Bielle, Dominique Cazals-Hatem, Felix Sahm, Sergey Nikolaev, Michel Kalamarides, Matthieu Peyre<\/em>
Acta Neuropathol. 2024 Aug 27;148(1):30<\/em><\/p>

Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants<\/a>
Pacot L., Blok M., Vidaud D., Fertitta L., Laurendeau I., Coustier A., Maillard T., Barbance C., Hadjadj D., Ye1 M., Lallemand D., Ferkal S., Funalot B., Lunati-Rozie A., Hebrard B., Bhouri R., Spruijt L., Bessis D., Genevi\u00e8ve D., Vernimmen V., Broen M., Sigaudy S., Odent S., Damaj L., Qu\u00e9lin C., Pasquier L., Layet V., Gilbert-Dussardier B., Nicolas G., Guerrot AM., Leheup B., Bursztejn C., Petit F., Boute-B\u00e9n\u00e9jean O., Capri Y., Guimier A., Lyonnet S., Baujat G., Bourrat E., Isidor B., Nizon M., Barbarot S., Toutain A., Blesson S., Van-Gils J., Morice-Picard F., Audebert-Bellanger S., Mazereeuw-Hautier J., Ziegler A., Alembik Y., Piard J., Brischoux-Boucher E., Guerrini-Rousseau L., Morera J., Paquis-Flucklinger V., Delobel B., Alessandri JL., Parfait B., on behalf of NF-France network, Wolkenstein P., Pasmant Eric
J Med Genet. 2025<\/em><\/p>

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Whole-Body Positron Emission Tomography with 18F-Fluorodeoxyglucose\/Magnetic Resonance Imaging as a Screening Tool for the Detection of Malignant Transformation in Individuals with Neurofibromatosis Type 1 <\/a>
Laura Fertitta, Arnaud Jannic, Ouidad Zehou, Christina Bergqvist, Salah Ferkal, Sabine Moryousef, Lionel Lerman, S\u00e9bastien Mul\u00e9, Alain Luciani, Blanche Bapst, Khaled Ezzedine, Nicolas Ortonne, Emmanuel Itti, Pierre Wolkenstein<\/em>
PMID: 38368929 DOI: 10.1016\/j.jid.2024.01.028<\/em><\/p><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t

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A core outcome domain set to assess cutaneous neurofibromas related to neurofibromatosis type 1 in clinical trials<\/a>
Laura Fertitta, Christina Bergqvist, Kavita Sarin, Scott R Plotkin, Christopher Moertel, Andrea J Petersen, Ashley Cannon, Yemima Berman, Dominique C Pichard, Class R\u00f6hl, Andres Lessing, Bernadette Brizion, Bastien Peiffer, Philippe Ravaud, Viet-Thi Tran, Marie-Laure Armand, Sabine Moryousef, Salah Ferkal, Arnaud Jannic, Khaled Ezzedine, Pierre Wolkenstein <\/em>
Br J Dermatol. 2023 Oct 25:ljad397. doi: 10.1093\/bjd\/ljad397.
Online ahead of print.
PMID: 37877514<\/em><\/p>

Topical delivery of MEK inhibitor binimetinib prevents the development of cutaneous neurofibromas in Neurofibromatosis type 1 mutant mice<\/a>
Coulpier F, Pulh P, Oubrou L, Naudet J, Fertitta L, Gregoire JM, Bocquet A, Schmitt AM, Wolkenstein P, Radomska KJ, Topilko P.<\/em>
Transl Res. 2023 Jun 16:S1931-5244(23)00105-6. doi: 10.1016\/j.trsl.2023.06.003. Online ahead of print.<\/em>
PMID: 37331503<\/em><\/p>

In-hospital clinical features, morbidity and mortality of patients with Neurofibromatosis 1 in France: a nationwide, population-based retrospective cohort study<\/a>
Diaz E, Bergqvist C, Peiffer B, Fertitta L, Jannic A, Ferkal S, Zehou O, Hemery F, Sbidian E, Wolkenstein P.<\/em>
J Invest Dermatol. 2023 May 29:S0022-202X(23)02128-0. doi: 10.1016\/j.jid.2023.04.034. Online ahead of print.<\/em>
PMID: 37257636<\/em><\/p>

French cohort of children and adolescents with neurofibromatosis type 1 and symptomatic inoperable plexiform neurofibromas: CASSIOPEA study<\/a>
Wolkenstein P, Chaix Y, Entz Werle N, Amini-Adle M, Barbarot S, Boileau C, Miled A, Rashid T, Aerts I.<\/em>
Eur J Med Genet. 2023 May;66(5):104734. doi: 10.1016\/j.ejmg.2023.104734. Epub 2023 Mar 2.<\/em>
PMID: 36868501<\/span><\/span><\/em><\/p>

Neurofibromatosis type 1: Factors associated with flare-ups of cutaneous neurofibromas at puberty<\/a>
Skayem C, Fertitta L, Diaz E, Jannic A, Ferkal S, Ravaud P, Tran VT, Ezzedine K, Wolkenstein P.
<\/em>J Eur Acad Dermatol Venereol. 2023 Feb;37(2):e158-e159. doi: 10.1111\/jdv.18652. Epub 2022 Oct 20.
<\/em>PMID: 36226401<\/span><\/span> No abstract available.<\/span><\/em><\/p>

cNF-Skindex in Adults Living with Neurofibromatosis 1: Severity Strata in France and Validation in United States Adults<\/a>
Fertitta L, Sarin KY, Bergqvist C, Patel E, Peiffer B, Moryousef S, Armand ML, Jannic A, Ferkal S, Ravaud P, Tran VT, Blakeley JO, Romo CG, Ezzedine K, Wolkenstein P.<\/em>
J Invest Dermatol. 2023 May 5:S0022-202X(23)02048-1. doi: 10.1016\/j.jid.2023.04.014. Online ahead of print.<\/em>
PMID: 37149083<\/em><\/p>

Comment on Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1<\/a>
Pacot L, Chansavang A, Jacques S, Laurendeau I, Hadjadj D, Ferkal S, Wolkenstein P, Vidaud D, Pasmant E.<\/em>
Eur J Hum Genet. 2023 Apr;31(4):380-382. doi: 10.1038\/s41431-023-01304-0. Epub 2023 Feb 3.<\/em>
PMID: 36732663 No abstract available.<\/em><\/p><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t

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Quality of life in neurofibromatosis 1: development and validation of a tool dedicated to cutaneous neurofibromas in adults<\/a>
Fertitta L, Bergqvist C, Armand ML, Moryousef S, Ferkal S, Jannic A, Ravaud P, Tran VT, Ezzedine K, Wolkenstein P.<\/em>
J Eur Acad Dermatol Venereol. 2022 Aug;36(8):1359-1366. doi: 10.1111\/jdv.18140. Epub 2022 Apr 28.<\/em>
PMID: 35412677<\/em><\/p>

Identification of three clinical neurofibromatosis 1 subtypes: Latent class analysis of a series of 1351 patients<\/a>
Bergqvist C, Fertitta L, Ezzedine K, Jannic A, Zehou O, Ferkal S, Combemale P, Barbarot S, Mazereeuw-Hautier J, Sbidian E, Wolkenstein P; NF France.<\/em>
J Eur Acad Dermatol Venereol. 2022 May;36(5):739-743. doi: 10.1111\/jdv.17974. Epub 2022 Mar 1.<\/em>
PMID: 35098592.<\/em><\/p>

VEGF and VEGFR family members are expressed by neoplastic cells of NF1-associated tumors and may play an oncogenic role in malignant peripheral nerve sheath tumor growth through an autocrine loop<\/a>
Bonsang B, Maksimovic L, Maille P, Martin N, Laurendeau I, Pasmant E, Bi\u00e8che I, Deschamps J, Wolkenstein P, Ortonne N.<\/em>
Ann Diagn Pathol. 2022 Oct;60:151997. doi: 10.1016\/j.anndiagpath.2022.151997. Epub 2022 Jun 23.<\/em>
PMID: 35777330.<\/em><\/p>

Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study<\/a>
Forde C, Burkitt-Wright E, Turnpenny PD, Haan E, Ealing J, Mansour S, Holder M, Lahiri N, Dixit A, Procter A, Pacot L, Vidaud D, Capri Y, Gerard M, Dollfus H, Schaefer E, Quelin C, Sigaudy S, Busa T, Vera G, Damaj L, Messiaen L, Stevenson DA, Davies P, Palmer-Smith S, Callaway A, Wolkenstein P, Pasmant E, Upadhyaya M.<\/em>
Eur J Hum Genet. 2022 Mar;30(3):291-297. doi: 10.1038\/s41431-021-01015-4. Epub 2021 Dec 13.<\/em>
PMID: 34897289 Free PMC article.<\/em><\/p>

Treatment of cutaneous neurofibromas with carbon dioxide laser: Technique and patient experience<\/a>
Peltonen S, Jannic A, Wolkenstein P.<\/em>
Eur J Med Genet. 2022 Jan;65(1):104386. doi: 10.1016\/j.ejmg.2021.104386. Epub 2021 Nov 9.<\/em>
PMID: 34768015<\/em><\/p><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t

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Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation<\/a>
Legius E, Messiaen L, Wolkenstein P, Pancza P, Avery RA, Berman Y, Blakeley J, Babovic-Vuksanovic D, Cunha KS, Ferner R, Fisher MJ, Friedman JM, Gutmann DH, Kehrer-Sawatzki H, Korf BR, Mautner VF, Peltonen S, Rauen KA, Riccardi V, Schorry E, Stemmer-Rachamimov A, Stevenson DA, Tadini G, Ullrich NJ, Viskochil D, Wimmer K, Yohay K; International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC); Huson SM, Evans DG, Plotkin SR.<\/em>
Genet Med. 2021 Aug;23(8):1506-1513. doi: 10.1038\/s41436-021-01170-5. Epub 2021 May 19.<\/em>
PMID: 34012067 Free PMC article.<\/em><\/p>

Severe Phenotype in Patients with Large Deletions of NF1<\/a>
Pacot L, Vidaud D, Sabbagh A, Laurendeau I, Briand-Suleau A, Coustier A, Maillard T, Barbance C, Morice-Picard F, Sigaudy S, Glazunova OO, Damaj L, Layet V, Quelin C, Gilbert-Dussardier B, Audic F, Dollfus H, Guerrot AM, Lespinasse J, Julia S, Vantyghem MC, Drouard M, Lackmy M, Leheup B, Alembik Y, Lemaire A, Nitschk\u00e9 P, Petit F, Dieux Coeslier A, Mutez E, Taieb A, Fradin M, Capri Y, Nasser H, Ruaud L, Dauriat B, Bourthoumieu S, Genevi\u00e8ve D, Audebert-Bellanger S, Nizon M, Stoeva R, Hickman G, Nicolas G, Mazereeuw-Hautier J, Jannic A, Ferkal S, Parfait B, Vidaud M, Members Of The Nf France Network, Wolkenstein P, Pasmant E.<\/em>
Cancers (Basel). 2021 Jun 13;13(12):2963. doi: 10.3390\/cancers13122963.<\/em>
PMID: 34199217 Free PMC article.<\/em><\/p>

Bone Status According to Neurofibromatosis Type 1 Phenotype: A Descriptive Study of 60 Women in France<\/a>
Jalabert M, Ferkal S, Souberbielle JC, Sbidian E, Mageau A, Eymard F, Le Corvoisier P, Allanore L, Chevalier X, Wolkenstein P, Guignard S.<\/em>
Calcif Tissue Int. 2021 Jun;108(6):738-745. doi: 10.1007\/s00223-021-00807-6. Epub 2021 Feb 8.<\/em>
PMID: 33558959<\/span><\/span><\/em><\/p>

Lymphoproliferative malignancies in patients with neurofibromatosis 1<\/a>
Bergqvist C, Hemery F, Jannic A, Ferkal S, Wolkenstein P.<\/em>
Orphanet J Rare Dis. 2021 May 19;16(1):230. doi: 10.1186\/s13023-021-01856-8.<\/em>
PMID: 34011343 Free PMC article.<\/em><\/p>

MEK inhibitors in RASopathies<\/a>
Bergqvist C, Wolkenstein P.<\/em>
Curr Opin Oncol. 2021 Mar 1;33(2):110-119. doi: 10.1097\/CCO.0000000000000711.<\/em>
PMID: 33395032 Review.<\/em><\/p>

Identifying challenges in neurofibromatosis: a modified Delphi procedure<\/a>
Dhaenens BAE, Ferner RE, Bakker A, Nievo M, Evans DG, Wolkenstein P, Potratz C, Plotkin SR, Heimann G, Legius E, Oostenbrink R.<\/em>
Eur J Hum Genet. 2021 Nov;29(11):1625-1633. doi: 10.1038\/s41431-021-00892-z. Epub 2021 Apr 26.<\/em>
PMID: 33903738 Free PMC article.<\/em><\/p><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t

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Retrouver sur cette page, les principales publications du CERENEF 2026 High frequency of mosaic NF2-related schwannomatosis diagnosed after somatic analysis of multi-nodular schwannomas in schwannomatosis patients Matthieu Peyre, C\u00e9cile Barbance, Suzanne Tran , Laurence Pacot , Beno\u00eet Terris , Michel Kalamarides , B\u00e9atrice ParfaitPMID: 41824074 DOI: 10.1007\/s00439-026-02825-6 \u00a0 2025 Prevalence, natural history and surgical outcome… <\/p>\n

\u279c Read morePublications<\/span><\/a><\/div>","protected":false},"author":1,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"neve_meta_sidebar":"","neve_meta_container":"","neve_meta_enable_content_width":"off","neve_meta_content_width":100,"neve_meta_title_alignment":"","neve_meta_author_avatar":"","neve_post_elements_order":"","neve_meta_disable_header":"","neve_meta_disable_footer":"","neve_meta_disable_title":"","neve_meta_reading_time":"","footnotes":""},"categories":[16],"tags":[],"class_list":["post-3352","post","type-post","status-publish","format-standard","hentry","category-le-cerenef"],"_links":{"self":[{"href":"https:\/\/cerenef.org\/en\/wp-json\/wp\/v2\/posts\/3352","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/cerenef.org\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/cerenef.org\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/cerenef.org\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/cerenef.org\/en\/wp-json\/wp\/v2\/comments?post=3352"}],"version-history":[{"count":18,"href":"https:\/\/cerenef.org\/en\/wp-json\/wp\/v2\/posts\/3352\/revisions"}],"predecessor-version":[{"id":4263,"href":"https:\/\/cerenef.org\/en\/wp-json\/wp\/v2\/posts\/3352\/revisions\/4263"}],"wp:attachment":[{"href":"https:\/\/cerenef.org\/en\/wp-json\/wp\/v2\/media?parent=3352"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/cerenef.org\/en\/wp-json\/wp\/v2\/categories?post=3352"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/cerenef.org\/en\/wp-json\/wp\/v2\/tags?post=3352"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}