C Longo1,2, V Barquet3, E Hernandez4, A A Marghoob5, M Potrony6,7,8, C Carrera6,7,8, P Aguilera6,7,8, C Badenas7,8,9, J Malvehy6,7,8, S Puig6,7,8. 1. Department of Dermatology, University of Modena and Reggio Emilia, Modena, Italy. 2. Azienda Unità Sanitaria Locale - IRCCS di Reggio Emilia, Centro Oncologico ad Alta Tecnologia Diagnostica-Dermatologia, Reggio Emilia, Italy. 3. Dermatology Department, Hospital de Clínicas, Montevideo, Uruguay. 4. Dermatology Department, Hospital Universitary Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain. 5. Memorial Sloan Kettering Cancer Center, New York, New York, USA. 6. Dermatology Department, Melanoma Unit, Hospital Clínic, Universitat de Barcelona, Barcelona, Spain. 7. Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain. 8. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain. 9. Biochemistry and Molecular Genetics Department, Melanoma Unit, Hospital Clínic, Universitat de Barcelona, Barcelona, Spain.
Abstract
BACKGROUND: MC1R polymorphisms interact with CDKN2A mutations modulating melanoma risk and contribute to a less suspicious clinical and dermoscopic appearance of melanomas. Different strategies, including dermoscopic comparative approach and digital monitoring, are used for the melanoma diagnosis in this context. OBJECTIVE: To analyse the diagnostic accuracy of the morphologic approach and comparative approach in dermoscopy, and to detect melanoma in familial melanoma (FamMM) patients according to different genetic backgrounds. METHODS: Two independent readers evaluated 415 lesions belonging to 25 FamMM: 26 melanomas (62% in situ, 36% early invasive) and 389 naevi, blinded for dermoscopic and histopathologic diagnosis, following two different steps. First step-Randomized: all lesions were randomly located in one single folder. Second step-Comparative approach: the lesions were clustered by patient. Sensitivity, specificity and number needed to excise (NNE) for melanoma diagnosis were calculated for both diagnostic strategies. Sensitivity and specificity were also assessed regarding the genetic background. RESULTS: The comparative approach showed lower sensitivity compared to the morphologic approach (69.2 and 73.1 vs. 76.9 both readers) but better specificity (95.9 and 95.1 vs. 84.3 and 90.2, respectively). NNE was better in the comparative approach. The readers had more difficulties diagnosing lesions from CDKN2A mutation carriers with red hair colour (RHC) MC1R variants. CONCLUSION: The comparative approach can be useful in high-risk patients to decrease the NNE. Early melanomas in CDKN2A carriers with RHC polymorphisms are more difficult to diagnose even with the comparative approach and benefit from the detection of changes during digital dermoscopy monitoring for early diagnosis.
BACKGROUND: MC1R polymorphisms interact with CDKN2A mutations modulating melanoma risk and contribute to a less suspicious clinical and dermoscopic appearance of melanomas. Different strategies, including dermoscopic comparative approach and digital monitoring, are used for the melanoma diagnosis in this context. OBJECTIVE: To analyse the diagnostic accuracy of the morphologic approach and comparative approach in dermoscopy, and to detect melanoma in familial melanoma (FamMM) patients according to different genetic backgrounds. METHODS: Two independent readers evaluated 415 lesions belonging to 25 FamMM: 26 melanomas (62% in situ, 36% early invasive) and 389 naevi, blinded for dermoscopic and histopathologic diagnosis, following two different steps. First step-Randomized: all lesions were randomly located in one single folder. Second step-Comparative approach: the lesions were clustered by patient. Sensitivity, specificity and number needed to excise (NNE) for melanoma diagnosis were calculated for both diagnostic strategies. Sensitivity and specificity were also assessed regarding the genetic background. RESULTS: The comparative approach showed lower sensitivity compared to the morphologic approach (69.2 and 73.1 vs. 76.9 both readers) but better specificity (95.9 and 95.1 vs. 84.3 and 90.2, respectively). NNE was better in the comparative approach. The readers had more difficulties diagnosing lesions from CDKN2A mutation carriers with red hair colour (RHC) MC1R variants. CONCLUSION: The comparative approach can be useful in high-risk patients to decrease the NNE. Early melanomas in CDKN2A carriers with RHC polymorphisms are more difficult to diagnose even with the comparative approach and benefit from the detection of changes during digital dermoscopy monitoring for early diagnosis.
Authors: Giuseppe Argenziano; H Peter Soyer; Sergio Chimenti; Renato Talamini; Rosamaria Corona; Francesco Sera; Michael Binder; Lorenzo Cerroni; Gaetano De Rosa; Gerardo Ferrara; Rainer Hofmann-Wellenhof; Michael Landthaler; Scott W Menzies; Hubert Pehamberger; Domenico Piccolo; Harold S Rabinovitz; Roman Schiffner; Stefania Staibano; Wilhelm Stolz; Igor Bartenjev; Andreas Blum; Ralph Braun; Horacio Cabo; Paolo Carli; Vincenzo De Giorgi; Matthew G Fleming; James M Grichnik; Caron M Grin; Allan C Halpern; Robert Johr; Brian Katz; Robert O Kenet; Harald Kittler; Jürgen Kreusch; Josep Malvehy; Giampiero Mazzocchetti; Margaret Oliviero; Fezal Ozdemir; Ketty Peris; Roberto Perotti; Ana Perusquia; Maria Antonietta Pizzichetta; Susana Puig; Babar Rao; Pietro Rubegni; Toshiaki Saida; Massimiliano Scalvenzi; Stefania Seidenari; Ignazio Stanganelli; Masaru Tanaka; Karin Westerhoff; Ingrid H Wolf; Otto Braun-Falco; Helmut Kerl; Takeji Nishikawa; Klaus Wolff; Alfred W Kopf Journal: J Am Acad Dermatol Date: 2003-05 Impact factor: 11.527
Authors: Harald Kittler; Ashfaq A Marghoob; Giuseppe Argenziano; Cristina Carrera; Clara Curiel-Lewandrowski; Rainer Hofmann-Wellenhof; Josep Malvehy; Scott Menzies; Susana Puig; Harold Rabinovitz; Wilhelm Stolz; Toshiaki Saida; H Peter Soyer; Eliot Siegel; William V Stoecker; Alon Scope; Masaru Tanaka; Luc Thomas; Philipp Tschandl; Iris Zalaudek; Allan Halpern Journal: J Am Acad Dermatol Date: 2016-02-17 Impact factor: 11.527
Authors: Alon Scope; Stephen W Dusza; Allan C Halpern; Harold Rabinovitz; Ralph P Braun; Iris Zalaudek; Giuseppe Argenziano; Ashfaq A Marghoob Journal: Arch Dermatol Date: 2008-01
Authors: Sancy A Leachman; John Carucci; Wendy Kohlmann; Kimberly C Banks; Maryam M Asgari; Wilma Bergman; Giovanna Bianchi-Scarrà; Teresa Brentnall; Brigitte Bressac-de Paillerets; William Bruno; Clara Curiel-Lewandrowski; Femke A de Snoo; Tadeusz Debniak; Marie-France Demierre; David Elder; Alisa M Goldstein; Jane Grant-Kels; Allan C Halpern; Christian Ingvar; Richard F Kefford; Julie Lang; Rona M MacKie; Graham J Mann; Kurt Mueller; Julia Newton-Bishop; Håkan Olsson; Gloria M Petersen; Susana Puig; Darrell Rigel; Susan M Swetter; Margaret A Tucker; Emanuel Yakobson; John A Zitelli; Hensin Tsao Journal: J Am Acad Dermatol Date: 2009-10 Impact factor: 11.527
Authors: Cristina Carrera; Michael A Marchetti; Stephen W Dusza; Giuseppe Argenziano; Ralph P Braun; Allan C Halpern; Natalia Jaimes; Harald J Kittler; Josep Malvehy; Scott W Menzies; Giovanni Pellacani; Susana Puig; Harold S Rabinovitz; Alon Scope; H Peter Soyer; Wilhelm Stolz; Rainer Hofmann-Wellenhof; Iris Zalaudek; Ashfaq A Marghoob Journal: JAMA Dermatol Date: 2016-07-01 Impact factor: 10.282