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1. [Translated article] Melanoma Registry of the Spanish Academy of Dermatology and Venereology (REGESMEL): Description and Data in its First Year of Operation

Author

Tejera-Vaquerizo, A., Boada, A., Puig, S., Nagore, E., Fernández-de-Misa, R., Ferrándiz, L., Conde-Taboada, A., Castro, E., Richarz, N.A., Paradela, S., Llambrich, Á., Salgüero, I., Diago, A., Samaniego, E., Flórez, Á., Segura, S., Maldonado-Seral, C., Coronel-Pérez, I.M., Tomás-Velázquez, A., Rodríguez-Jiménez, P., Mayor, A., García-Doval, I., and Grau-Pérez, M.

Published
2024
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2. Registro de Melanoma de la Academia Española de Dermatología y Venereología (REGESMEL): descripción y datos en el primer año de funcionamiento

Author

Tejera-Vaquerizo, A., Boada, A., Puig, S., Nagore, E., Fernández-de-Misa, R., Ferrándiz, L., Conde-Taboada, A., Castro, E., Richarz, N.A., Paradela, S., Llambrich, Á., Salgüero, I., Diago, A., Samaniego, E., Flórez, Á., Segura, S., Maldonado-Seral, C., Coronel-Pérez, I.M., Tomás-Velázquez, A., Rodríguez-Jiménez, P., Mayor, A., García-Doval, I., and Grau-Pérez, M.

Published
2024
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3. Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia

Author

Dalmasso, B, Pastorino, L, Nathan, V, Shah, NN, Palmer, JM, Howlie, M, Johansson, PA, Freedman, ND, Carter, BD, Beane-Freeman, L, Hicks, B, Molven, A, Helgadottir, H, Sankar, A, Tsao, H, Stratigos, AJ, Helsing, P, Van Doorn, R, Gruis, NA, Visser, M, Wadt, KAW, Mann, G, Holland, EA, Nagore, E, Potrony, M, Puig, S, Menin, C, Peris, K, Fargnoli, MC, Calista, D, Soufir, N, Harland, M, Bishop, T, Kanetsky, PA, Elder, DE, Andreotti, V, Vanni, I, Bruno, W, Höiom, V, Tucker, MA, Yang, XR, Andresen, PA, Adams, DJ, Landi, MT, Hayward, NK, Goldstein, AM, and Ghiorzo, P

Subjects
Genetics, Human Genome, Cancer, 2.1 Biological and endogenous factors, Aetiology, Ataxia Telangiectasia, Ataxia Telangiectasia Mutated Proteins, Australia, Genetic Predisposition to Disease, Germ-Line Mutation, Humans, Melanoma, GenoMEL, MelaNostrum consortia, Clinical Sciences, Genetics & Heredity
Abstract

PurposeAtaxia-Telangiectasia Mutated (ATM) has been implicated in the risk of several cancers, but establishing a causal relationship is often challenging. Although ATM single-nucleotide polymorphisms have been linked to melanoma, few functional alleles have been identified. Therefore, ATM impact on melanoma predisposition is unclear.MethodsFrom 22 American, Australian, and European sites, we collected 2,104 familial, multiple primary (MPM), and sporadic melanoma cases who underwent ATM genotyping via panel, exome, or genome sequencing, and compared the allele frequency (AF) of selected ATM variants classified as loss-of-function (LOF) and variants of uncertain significance (VUS) between this cohort and the gnomAD non-Finnish European (NFE) data set.ResultsLOF variants were more represented in our study cohort than in gnomAD NFE, both in all (AF = 0.005 and 0.002, OR = 2.6, 95% CI = 1.56-4.11, p

Published
2021

6. Análisis multicéntrico del manejo quirúrgico y tratamiento adyuvante de los pacientes con melanoma y positividad en la biopsia selectiva del ganglio centinela

Author

Samaniego-González, E., Podlipnik, S., Ribero, S., Nagore, E., Boada, A., Cañueto, J., Paradela, S., de Unamuno, B., Rodríguez-Jiménez, P., Puig, S., Malvehy, J., Carrera, C., Roccuzzo, G., Requena, C., Manrique-Silva, E., Richarz, N., Ruiz-Villanueva, A., Traves, V., España-Fernández, S., Botella-Estrada, R., González-Morán, M.A., and Tejera-Vaquerizo, A.

Published
2024
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11. Registro de Melanoma de la Academia Española de Dermatología y Venereología (REGESMEL): descripción y datos en el primer año de funcionamiento

Author

Vaquerizo, A Tejera, primary, Boada, A, additional, Puig, S, additional, Nagore, E, additional, de-Misa, R Fernández, additional, Ferrándiz, L, additional, Taboada, A Conde, additional, Castro, E, additional, Richarz, N A, additional, Paradela, S, additional, Llambrich, Á, additional, Salgüero, I, additional, Diago, A, additional, Samaniego, E, additional, Flórez, Á, additional, Segura, S, additional, Seral, C Maldonado, additional, Coronel-Pérez, I Mª, additional, Velázquez, A Tomás, additional, Rodríguez, P, additional, Mayor, A, additional, Doval, I García, additional, and Pérez, M Grau, additional

Published
2024
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27. High‐ and intermediate‐risk susceptibility variants in melanoma families from the Mediterranean area: a multicenter cohort from the MelaNostrum Consortium

Author

Pellegrini, C., primary, Cardelli, L., additional, Ghiorzo, P., additional, Pastorino, L., additional, Potrony, M., additional, García‐Casado, Z., additional, Elefanti, L., additional, Stefanaki, I., additional, Mastrangelo, M., additional, Necozione, S., additional, Aguilera, P., additional, Rodríguez‐Hernández, A., additional, Di Nardo, L., additional, Rocco, T., additional, Del Regno, L., additional, Badenas, C., additional, Carrera, C., additional, Malvehy, J., additional, Requena, C., additional, Bañuls, J., additional, Stratigos, A. J., additional, Peris, K., additional, Menin, C., additional, Calista, D., additional, Nagore, E., additional, Puig, S., additional, Landi, M. T., additional, and Fargnoli, M. C., additional

Published
2023
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29. Role of Sleep Apnea and Long-Term CPAP Treatment in the Prognosis of Patients With Melanoma

Author

Gómez-Olivas, J.D., primary, Campos-Rodriguez, F., additional, Nagore, E., additional, Martorell, A., additional, García-Rio, F., additional, Cubillos, C., additional, Hernandez, L., additional, Banuls, J., additional, Arias, E., additional, Ortiz, P., additional, Cabriada, V., additional, Gardeazabal, J., additional, Montserrat, J.M., additional, Carreres, C., additional, Masa, J.F., additional, Gomez de Terreros, J., additional, Abad, J., additional, Boada, A., additional, Mediano, O., additional, Castillo-Garcia, M., additional, Chiner, E., additional, Landete, P., additional, Mayos, M., additional, Fortuno, A., additional, Barbe, F., additional, Sanchez-de-la-Torre, M., additional, Cano-Pumarega, I., additional, Perez-Gil, A., additional, Gomez-Garcia, T., additional, Cullen, D., additional, Somoza, M., additional, Formigon, M., additional, Aizpuru†, F., additional, Oscullo, G., additional, Garcia-Ortega, A., additional, Almendros, I., additional, Farre, R., additional, Gozal, D., additional, and Martinez-Garcia, Miguel Angel, additional

Published
2023
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35. European consensus-based interdisciplinary guideline for diagnosis and treatment of basal cell carcinoma—update 2023

Author

Peris, Ketty, Fargnoli, Maria Concetta, Kaufmann, R., Arenberger, P., Bastholt, L., Seguin, N. B., Bataille, V., Brochez, L., del Marmol, V., Dummer, R., Forsea, A. -M., Gaudy-Marqueste, C., Harwood, C. A., Hauschild, A., Holler, C., Kandolf, L., Kellerners-Smeets, N. W. J., Lallas, A., Leiter, U., Malvehy, J., Marinovic, B., Mijuskovic, Z., Moreno-Ramirez, D., Nagore, E., Nathan, P., Stratigos, A. J., Stockfleth, E., Tagliaferri, Luca, Trakatelli, M., Vieira, R., Zalaudek, Iri, Garbe, C., Peris K. (ORCID:0000-0002-5237-0463), Fargnoli M. C., Tagliaferri L. (ORCID:0000-0003-2308-0982), Zalaudek I., Peris, Ketty, Fargnoli, Maria Concetta, Kaufmann, R., Arenberger, P., Bastholt, L., Seguin, N. B., Bataille, V., Brochez, L., del Marmol, V., Dummer, R., Forsea, A. -M., Gaudy-Marqueste, C., Harwood, C. A., Hauschild, A., Holler, C., Kandolf, L., Kellerners-Smeets, N. W. J., Lallas, A., Leiter, U., Malvehy, J., Marinovic, B., Mijuskovic, Z., Moreno-Ramirez, D., Nagore, E., Nathan, P., Stratigos, A. J., Stockfleth, E., Tagliaferri, Luca, Trakatelli, M., Vieira, R., Zalaudek, Iri, Garbe, C., Peris K. (ORCID:0000-0002-5237-0463), Fargnoli M. C., Tagliaferri L. (ORCID:0000-0003-2308-0982), and Zalaudek I.

Abstract

Basal cell carcinoma (BCC) is the most common malignant tumour in white populations. Multidisciplinary experts from European Association of Dermato-Oncology (EADO), European Dermatology Forum, European Society for Radiotherapy and Oncology (ESTRO), Union Européenne des Médecins Spécialistes, and the European Academy of Dermatology and Venereology developed updated recommendations on diagnosis and treatment of BCC. BCCs were categorised into ‘easy-to-treat’ (common) and ‘difficult-to-treat’ according to the new EADO clinical classification. Diagnosis is based on clinico-dermatoscopic features, although histopathological confirmation is mandatory in equivocal lesions. The first-line treatment of BCC is complete surgery. Micrographically controlled surgery shall be offered in high-risk and recurrent BCC, and BCC located on critical anatomical sites. Topical therapies and destructive approaches can be considered in patients with low-risk superficial BCC. Photodynamic therapy is an effective treatment for superficial and low-risk nodular BCCs. Management of ‘difficult-to-treat’ BCCs should be discussed by a multidisciplinary tumour board. Hedgehog inhibitors (HHIs), vismodegib or sonidegib, should be offered to patients with locally advanced and metastatic BCC. Immunotherapy with anti-PD1 antibodies (cemiplimab) is a second-line treatment in patients with a progression of disease, contraindication, or intolerance to HHI therapy. Radiotherapy represents a valid alternative in patients who are not candidates for or decline surgery, especially elderly patients. Electrochemotherapy may be offered when surgery or radiotherapy is contraindicated. In Gorlin patients, regular skin examinations are required to diagnose and treat BCCs at an early stage. Long-term follow-up is recommended in patients with high-risk BCC, multiple BCCs, and Gorlin syndrome.

Published
2023

40. Analysis of Undergraduate Dermatology Syllabi at Spanish Universities: Does the Weight of Theoretical Content Match the Skin Conditions Seen in Primary Care and General Dermatology Practices?

Author

Martín Gorgojo, A., García Doval, I., Buendía Eisman, Agustín, and Nagore, E.

Subjects
Medical education, Undergraduate, Family medicine, Epidemiology, Dermatology
Abstract

Introduction: Undergraduate dermatology courses vary in the nearly 50 Spanish medical faculties that teach the subject. This study aimed to describe the characteristics of these courses and to analyze whether the weight assigned to dermatology topics reflects the caseloads of primary care physicians and general dermatologists in the Spanish national health system. Material and methods: Cross-sectional study of syllabi used in Spanish medical faculties during the 2021---2022 academic year. We determined the number of teaching hours in public and private university curricula and compared the weight of dermatology topics covered to the dermatology caseloads of primary care physicians and general dermatologists as reported in published studies. Results: Most medical faculties taught dermatology for one semester. The median number of credits offered was 4.5. On average, lectures covered 24 theoretical topics, and seminars and workshops covered 9 topics. We identified a clear disparity between the percentage of time devoted to dermatology topics in course lectures and the skin conditions usually managed in primary care and general dermatology practices.

Published
2023

47. InterMEL: An international biorepository and clinical database to uncover predictors of survival in early-stage melanoma

Author

Amos, C.I., Scolyer, R.A., Begg, C.B., Osman, I., Thompson, C., Brunsgaard, E.K., Seshan, V., Shen, R., Thomas, N.E., Hao, H., Moschos, S.J., Sadeghi, K.D., Berwick, M., Ngo, P., Kenney, J.M., Kuan, P.-F., Lezcano, C., Aurora, A., Hernando, E., Cust, A.E., Wilmott, J.S., Bosenberg, M.W., Luo, L., Rees, J.R., Nagore, E., Holmen, S.L., Googe, P.B., Orlow, I., Ko, J.S., Ferguson, P.M., Edmiston, S.N., Parrish, E., Funchain, P., Conway, K., InterMEL Consortium, Busam, K.J., Bogner, P.N., Gorlov, I.P., Burke, H., Hanniford, D., Mann, G.J., Ernstoff, M.S., Gerstenblith, M.R., Gould Rothberg, B.E., O'Connell, K., Ollila, D.W., Boyce, T.W., Lee, T.K., Argibay, D., Shang, P., Lee, J.E., Jakrot, V., and Saenger, Y.M.

Abstract

INTRODUCTION: We are conducting a multicenter study to identify classifiers predictive of disease-specific survival in patients with primary melanomas. Here we delineate the unique aspects, challenges, and best practices for optimizing a study of generally small-sized pigmented tumor samples including primary melanomas of at least 1.05mm from AJTCC TNM stage IIA-IIID patients. We also evaluated tissue-derived predictors of extracted nucleic acids' quality and success in downstream testing. This ongoing study will target 1,000 melanomas within the international InterMEL consortium. METHODS: Following a pre-established protocol, participating centers ship formalin-fixed paraffin embedded (FFPE) tissue sections to Memorial Sloan Kettering Cancer Center for the centralized handling, dermatopathology review and histology-guided coextraction of RNA and DNA. Samples are distributed for evaluation of somatic mutations using next gen sequencing (NGS) with the MSK-IMPACTTM assay, methylation-profiling (Infinium MethylationEPIC arrays), and miRNA expression (Nanostring nCounter Human v3 miRNA Expression Assay). RESULTS: Sufficient material was obtained for screening of miRNA expression in 683/685 (99%) eligible melanomas, methylation in 467 (68%), and somatic mutations in 560 (82%). In 446/685 (65%) cases, aliquots of RNA/DNA were sufficient for testing with all three platforms. Among samples evaluated by the time of this analysis, the mean NGS coverage was 249x, 59 (18.6%) samples had coverage below 100x, and 41/414 (10%) failed methylation QC due to low intensity probes or insufficient Meta-Mixed Interquartile (BMIQ)- and single sample (ss)- Noob normalizations. Six of 683 RNAs (1%) failed Nanostring QC due to the low proportion of probes above the minimum threshold. Age of the FFPE tissue blocks (p

Published
2023
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48. A single-center comparison of our initial experiences in treating penile and urethral cancer with video-endoscopic inguinal lymphadenectomy (VEIL) and later experiences in melanoma cases

Author

Gómez-Ferrer, A., Collado, A., Ramírez, M., Domínguez, J., Casanova, J., Mir, C., Wong, A., Marenco, J. L., Nagore, E., Soriano, V., and Rubio-Briones, J.

Subjects
Surgery
Abstract

BackgroundVideo-endoscopic inguinal lymphadenectomy (VEIL) is a minimally invasive approach that is increasingly indicated in oncological settings, with mounting evidence for its long-term oncological safety.ObjectivesTo present our single-center experience of treating penile and urethral cancer with VEIL, as well as its more recent application in melanoma patients.MethodsWe prospectively recorded our experiences with VEIL from September 2010 to July 2018, registering the patient primary indication, surgical details, complications, and follow-up.ResultsTwenty-nine patients were operated in one (24) or both (5) groins; 18 had penile cancer, 1 had urethral cancer, and 10 had melanoma. A mean 8.62 ± 4.45 lymph nodes were removed using VEIL and of these, an average of 1.00 ± 2.87 were metastatic; 16 patients developed lymphocele and 10 presented some degree of lymphedema; there were no skin or other major complications. The median follow-up was 19.35 months; there were 3 penile cancer patient recurrences in the VEIL-operated side. None of the melanoma patients presented a lymphatic inguinal recurrence.ConclusionsVEIL is a minimally invasive technique which appears to be oncologically safe showing fewer complications than open surgery. However, complications such as lymphorrhea, lymphocele, or lymphedema were not diminished by using VEIL.

Published
2022

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