French national reference center for rare diseases of the skin and mucous membranes of genetic origin (North MAGEC)
The reference center for rare diseases of the skin and mucous membranes of genetic origin (North MAGEC) at Cochin hospital is a multidisciplinary center of specialists for the management of skin cancers occurring in patients with predisposing genodermatoses. It was accredited in 2017 as a constituent center providing complementary expertise. It is located within the dermatology department of the Cochin hospital, which is one of the AP-HP’s expert centers for the treatment of malignant skin tumours. It also has particular expertise in tumours developing from genetic diseases.
It has :
- doctors with expertise in oncology (n=7)
- 3 multidisciplinary consultations: primary skin tumours, metastatic forms and skin lymphomas
- a surgical day hospital for the removal of skin tumours, including under general anaesthetic
- a medical day hospital for chemotherapy and follow-up of heavy patients
- a conventional hospitalization of 13 beds
An announcement consultation has been set up, in accordance with the cancer plan. Multidisciplinary care is facilitated by the presence on the Cochin site, and more widely within the APHP.centre hospital group, of complementary medical specialities, as well as anatomopathology and molecular genetics laboratories with expertise in very specific diagnostic and monitoring examinations.
Within the federation of genetics and genomic medicine of APHP.centre, the department collaborates with the endocrinology, gastroenterology, oncology and molecular genetics departments of the Cochin hospital and the Georges-Pompidou european hospital. Privileged links are also developed within the framework of the PREDIR (familial predisposition to renal tumours) and PRED-IdF (familial predisposition to colorectal cancers) networks with the other oncogenetic centres in the Île-de-France region, in particular: the Pitié-Salpêtrière, Saint Antoine and Bicêtre hospitals and the Curie Institute.
This reference center is affiliated with the FIMARAD rare diseases healthcare network and the ERN Skin European reference network (ERN).
Keywords : Familial melanoma, Lynch/Muir-Torre, Gorlin, CDKN2A, BAP1, Multiple cutaneous and uterine leiomyomas, Birt-Hogg-Dubé, Cowden, Carney.
Medical team
Pr Sarah Guégan
MD, PhD
Contact us
Request for an onco-genetic consultation
Secretariat of Pr Guégan : +33 1 58 41 18 06
> Send an email
Secretariat of Dr Lheure : +33 1 58 41 17 99
> Send an email
In case of emergency
The missions of the reference center are :
- Care :
- screening with the identification of predisposing factors (genetic and environmental),
- diagnosis
- treatment (surgical and medical) of skin cancers
- regular monitoring of patients
- therapeutic education workshops
- interfaces with patient associations
- Research :
- carrying out studies in the framework of translational research in some of the pathologies treated by the reference center
- Teaching :
- Courses on the different genodermatoses treated by the reference center at different stages of the medical and paramedical curriculum or in the context of patient associations
- Oculocutaneous albinism
- Monogenic diseases predisposing to malignant and benign skin proliferation
- Carney complex
- Familial cylindromatosis/Brooke-Spiegler syndrome/CYLD gene mutation/Familial multiple trichoepithelioma
- Epidermodysplasia verruciformis
- Epidermal hamartoma syndrome and giant congenital melanocytic nevus
- Hereditary leiomyomatosis and renal cell cancer
- Familial melanoma
- BAP1-related tumor predisposition syndrome
- Tuberous sclerosis complex
- Bazex-Dupré-Christol syndrome
- Birt-Hogg-Dubé syndrome
- Cowden syndrome/
- Ferguson-Smith disease
- Gorlin syndrome
- Gardner syndrome
- Lynch syndrome/Muir-Torre syndrome
- Phakomatosis pigmentovascularis
- PTEN hamartoma tumor syndrome
- Xeroderma pigmentosum
Pr Sarah Guégan
Head of the reference center, dermatologist
MD, PhD
Dr Johan Chanal
Dermatologist
MD
Dr Coralie Lheure
Dermatologist
MD
Peggy Lelievre
Medical secretary
- Management of Xeroderma pigmentosum (Under development)
RESARCH
- Characterisation of overactivated signalling pathways in giant congenital nevus – Skin biology laboratory-Institut Cochin (In progress)
- Pre-clinical study models in giant congenital nevus – Skin biology laboratory-Institut Cochin (In progress)
- GENOSKIN: Characterisation of genetic abnormalities in non-ultraviolet induced mucosal and skin carcinomas – Skin biology laboratory-Institut Cochin (In progress)
Cohort
- THERADJNEVUS (study of congenital nevi and melanoma on congenital nevi) (In progress)
TEACHING
- UD in clinical oncology
Sorbonne Université
2021
– Second primary cutaneous melanoma in patients with advanced melanoma treated with anti-programmed-death-receptor-1 monoclonal antibodies.
Charvet E, Kramkimel N, Chaplain L, Gantzer A, Kassem O, Longvert C, Blom A, Dupin N, Aractingi S, Hamon M, Zimmermann U, Emile JF, Sohier P, Sidibé T, Saiag P, Funck-Brentano E.
Br J Dermatol. 2021 Apr;184(4):746-748. doi: 10.1111/bjd.19629. Epub 2020 Dec 1
– CT, MRI and PET/CT features of abdominal manifestations of cutaneous melanoma: a review of current concepts in the era of tumor-specific therapies.
Maxime Barat, Sarah Guegan-Bart, Anne-Ségolène Cottereau, Enora Guillo, Christine Hoeffel, Maximilien Barret, Sébastien Gaujoux, Anthony Dohan, Philippe Soyer
Abdom Radiol (NY), 2021 May, PMID: 33135115 DOI: 10.1007/s00261-020-02837-4
– Simultaneous quantification of dabrafenib, hydroxy-dabrafenib and trametinib in human plasma by liquid chromatography-tandem mass spectrometry.
David Balakirouchenane, Nihel Khoudour, Sarah Guégan, Nora Kramkimel, Nathalie Franck, Thomas Rodier, François Goldwasser, Nicolas Dupin, Selim Aractingi, Michel Vidal, Benoit Blanchet
J Pharm Biomed Anal, 2021 Jan 30, PMID: 33166838 DOI: 10.1016/j.jpba.2020.113718
– Immune checkpoint inhibitors increase T cell immunity during SARS-CoV-2 infection.
Nader Yatim, Jeremy Boussier, Pauline Tetu, Nikaïa Smith, Timothée Bruel, Bruno Charbit, Laura Barnabei, Aurélien Corneau, Laetitia Da Meda, Clara Allayous, Barouyr Baroudjian
Sci Adv, 2021 Aug 18, PMID: 34407944 PMCID: PMC8373136 DOI: 10.1126/sciadv.abg4081
– Anti-Interleukin-6 and Janus Kinase Inhibitors for Severe Neurologic Toxicity of Checkpoint Inhibitors.
Alberto Picca, Nefeli Valyraki, Cristina Birzu, Nora Kramkimel, Olivier Hermine, Noel Zahr, Giulia Berzero, Dimitri Psimaras
Neurol Neuroimmunol Neuroinflamm, 2021 Sep 8, PMID: 34497101 PMCID: PMC8439960 DOI: 10.1212/NXI.0000000000001073
2020
– Hepatic sinusoidal obstruction syndrome induced by nivolumab in advanced melanoma: a case report.
E Charvet, C Lheure, C Isnard, N Franck, N Kramkimel, A Vallet-Pichard, A Dohan, B Terris, S Aractingi, N Dupin, S Guégan
Ann Oncol, 2020 May, PMID: 32165097 DOI: 10.1016/j.annonc.2020.02.004
– Induced sarcoid-like reactions in patients with metastatic melanoma treated with dabrafenib and trametinib: a monocentric retrospective study.
Sandra Huynh, Coralie Lheure, Nathalie Franck, Gabrielle Goldman-Lévy, Selim Aractingi, Nicolas Dupin, Nora Kramkimel, Sarah Guégan
Melanoma Res, 2020 Jun, PMID: 32053122 DOI: 10.1097/CMR.0000000000000649
– Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility.
Maria Teresa Landi, D. Timothy Bishop, […]Matthew H. Law
Nat Genet, 2020 May, PMID: 32341527 PMCID: PMC7255059 DOI: 10.1038/s41588-020-0611-8
– Overlapping genetic architecture between Parkinson disease and melanoma.
Umber Dube, Laura Ibanez, John P. Budde, Bruno A. Benitez, Albert A. Davis, Oscar Harari, Mark M. Iles, Matthew H. Law, Kevin M. Brown, 23andMe Research Team, Melanoma-Meta-analysis Consortium & Carlos Cruchaga
Acta Neuropathol, 2020 Feb, PMID: 31845298 PMCID: PMC7379325 DOI: 10.1007/s00401-019-02110-z
– BRAF inhibitor resistance of melanoma cells triggers increased susceptibility to natural killer cell-mediated lysis.
Alexandra Frazao, Louise Rethacker, Géraldine Jeudy, Marina Colombo, Eric Pasmant, Marie-Françoise Avril, Antoine Toubert, Helene Moins-Teisserenc, Marie Roelens, Sophie Dalac, Eve Maubec and Anne Caignard
J Immunother Cancer, 2020 Sep, PMID: 32912923 PMCID: PMC7482503 DOI: 10.1136/jitc-2019-000275
– Frequency and Incidence of Carney Complex Manifestations: A Prospective Multicenter Study With a Three-Year Follow-Up.
Stéphanie Espiard, Marie-Christine Vantyghem, Guillaume Assié, Catherine Cardot-Bauters, Gerald Raverot, Françoise Brucker-Davis, Françoise Archambeaud-Mouveroux, Hervé Lefebvre, Marie-Laure Nunes, Antoine Tabarin, Anne Lienhardt, Olivier Chabre, Muriel Houang, Muriel Bottineau, Sebastian Stroër, Lionel Groussin, Laurence Guignat, Laure Cabanes, Antoine Feydy, Fidéline Bonnet, Marie Odile North, Nicolas Dupin, Sophie Grabar, Denis Duboc, Jérôme Bertherat
J Clin Endocrinol Metab, 2020 Mar 1, PMID: 31912137 DOI: 10.1210/clinem/dgaa002
– Phase II Study of Pembrolizumab As First-Line, Single-Drug Therapy for Patients With Unresectable Cutaneous Squamous Cell Carcinomas.
Eve Maubec, Marouane Boubaya, Peter Petrow, Marie Beylot-Barry, Nicole Basset-Seguin, Lydia Deschamps, Jean-Jacques Grob, Brigitte Dréno, Isabelle Scheer-Senyarich, Coralie Bloch-Queyrat, Marie-Thérèse Leccia, Andreea Stefan, Philippe Saiag, Florent Grange, Nicolas Meyer, Julie de Quatrebarbes, Monica Dinulescu, Delphine Legoupil, Laurent Machet, Olivier Dereure, Ouidad Zehou, Henri Montaudié, Ewa Wierzbicka-Hainaut, Yannick Le Corre, Sandrine Mansard, Sarah Guégan, Jean-Philippe Arnault, Sophie Dalac, François Aubin, Céline Alloux, Isabelle Lopez, Soufian Cherbal, Annick Tibi, Vincent Lévy, Groupe de Cancérologie Cutanée
J Clin Oncol, 2020 Sep 10, PMID: 32730186 DOI: 10.1200/JCO.19.03357
– Reintroduction of immune-checkpoint inhibitors after immune-related meningitis: a case series of melanoma patients.
Stefania Cuzzubbo, Pauline Tetu, Sarah Guegan, Renata Ursu, Catherine Belin, Lila Sirven Villaros, Julie Mazoyer, Coralie Lheure, Celeste Lebbe, Barouyr Baroudjian, Antoine F Carpentier
J Immunother Cancer, 2020 Jul, PMID: 32747471 PMCID: PMC7398097 DOI: 10.1136/jitc-2020-001034
– Population Pharmacokinetics/Pharmacodynamics of Dabrafenib Plus Trametinib in Patients with BRAF-Mutated Metastatic Melanoma.
David Balakirouchenane, Sarah Guégan, Chantal Csajka, Anne Jouinot, Valentine Heidelberger, Alicja Puszkiel, Ouidad Zehou, Nihel Khoudour, Perrine Courlet, Nora Kramkimel, Coralie Lheure, Nathalie Franck, Olivier Huillard, Jennifer Arrondeau, Michel Vidal, Francois Goldwasser, Eve Maubec, Nicolas Dupin, Selim Aractingi, Monia Guidi, Benoit Blanchet
Cancers (Basel), 2020 Apr 9, PMID: 32283865 PMCID: PMC7226106 DOI: 10.3390/cancers12040931
– Association of Anti-Programmed Cell Death 1 Antibody Treatment With Risk of Recurrence of Toxic Effects After Immune-Related Adverse Events of Ipilimumab in Patients With Metastatic Melanoma.
Angélique Brunot; Jean-Jacques Grob; Geraldine Jeudy, et al
JAMA Dermatol, 2020 Sep 1, PMID: 32667663 PMCID: PMC7364335 DOI: 10.1001/jamadermatol.2020.2149
2019
– Pembrolizumab for Unresectable or Metastatic Melanoma in Patients Older than 85 Years of Age.
Chanal, J ; Kramkimel, N ; Ratour, C ; Aractingi, S ; Guégan, S ; Avril, MF
Dermatology, 2019, PMID: 30721908 DOI: 10.1159/000492467
– Local Inhibition of MEK/Akt Prevents Cellular Growth in Human Congenital Melanocytic Nevi.
Rouillé, T ; Aractingi, S ; Kadlub, N ; Fraitag, S ; How-Kit, A ; Daunay, A & al
J Invest Dermatol, 2019 Sep, PMID: 31059696 DOI: 10.1016/j.jid.2019.03.1156
– Encephalitis induced by immune checkpoint inhibitors in metastatic melanoma: a monocentric retrospective study.
Galmiche, S ; Lheure, C ; Kramkimel, N ; Franck, N ; Boitier, F ; Dupin, N & al
J Eur Acad Dermatol Venereol, 2019 Dec, PMID: 31219194 DOI: 10.1111/jdv.15756
– Unresectable Non-metastatic Primary Melanoma: Complete Remission Following Treatment with Anti-Programmed-cell-death-receptor 1.
Lheure, C ; Hoffmann, C ; Kramkimel, N ; Plée, J ; Franck, N ; Vanhaecke, C & al
Acta Derm Venereol, 2019 Jan 1, PMID: 30176045 DOI: 10.2340/00015555-3028
– Haematological immune-related adverse events induced by anti-PD-1 or anti-PD-L1 immunotherapy: a descriptive observational study.
Delanoy, N ; Michot, JM ; Comont, T ; Kramkimel, N ; Lazarovici, J ; Dupont, R & al
Lancet Haematol, 2019 Jan, PMID: 30528137 DOI: 10.1016/S2352-3026(18)30175-3
– Safety and Efficacy of Immune Checkpoint Inhibitors in Patients With Cancer and Preexisting Autoimmune Disease: A Nationwide, Multicenter Cohort Study.
Tison, A ; Quéré, G ; Misery, L ; Funck-Brentano, E ; Danlos, FX ; Routier, E & al
Arthritis Rheumatol, 2019 Dec, PMID: 31379105 DOI: 10.1002/art.41068
– The tumor inflammation signature (TIS) is associated with anti-PD-1 treatment benefit in the CERTIM pan-cancer cohort.
Damotte, D ; Warren, S ; Arrondeau, J ; Boudou-Rouquette, P ; Mansuet-Lupo, A ; Biton, J & al
J Transl Med, 2019 Nov 4, PMID: 31684954 PMCID: PMC6829827 DOI: 10.1186/s12967-019-2100-3
– Incidence and Clinical Impact of Anti-TNFα Treatment of Severe Immune Checkpoint Inhibitor-induced Colitis in Advanced Melanoma: The Mecolit Survey.
Lesage, C ; Longvert, C ; Prey, S ; Maanaoui, S ; Dréno, B ; Machet, L & al
J Immunother, 2019 Jun, PMID: 31090656 DOI: 10.1097/CJI.0000000000000268
– MC1R variants in childhood and adolescent melanoma: a retrospective pooled analysis of a multicentre cohort.
Pellegrini, C ; Botta, F ; Massi, D ; Martorelli, C ; Facchetti, F ; Gandini, S & al
Lancet Child Adolesc Health, 2019 May, PMID: 30872112 PMCID: PMC6942319 DOI: 10.1016/S2352-4642(19)30005-7
– Estimating CDKN2A mutation carrier probability among global familial melanoma cases using GenoMELPREDICT.
Taylor, NJ ; Mitra, N ; Qian, L ; Avril, MF ; Bishop, DT ; Bressac-de Paillerets, B & al
J Am Acad Dermatol, 2019 Aug, PMID: 30731170 PMCID: PMC6634996 DOI: 10.1016/j.jaad.2019.01.079
- 5ème Journée Fimarad 27/11/2020 : Génodermatoses et tumeurs cutanées, Pr Guégan
- Webinar ERNskin 28/09/21 : Nevus pathophysiology, Melanoma risks and therapeutic expectations, Pr Guégan
- Association du Nævus Géant Congénital
- Association Nævus 2000
- Association PXE France (Pseudoxanthome élastique)
- Association Sclérose Tubéreuse de Bourneville France (ASTB)
- Genespoir – association française des albinismes
- Association HNPCC – Lynch (Hereditary Non-Polyposis Colorectal Cancer)
- Les enfants de la lune (association pour le Xeroderma Pigmentosum)
- Association Malinas Syndrome de Gorlin France
- Association Vaincre le mélanome
- Association PTEN officiel France (Syndrome de Cowden)
- Association Syndrome de Cowden
Contact information
At Cochin hospital, the reference center for rare diseases of the skin and mucous membranes of genetic origin (MAGEC) in brief …
* data valid for 2022