CDKN2A mutations could influence the dermoscopic pattern of presentation of multiple primary melanoma: A clinical dermoscopic genetic study (Articolo in rivista)

Type
Label
  • CDKN2A mutations could influence the dermoscopic pattern of presentation of multiple primary melanoma: A clinical dermoscopic genetic study (Articolo in rivista) (literal)
Anno
  • 2014-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1111/jdv.12643 (literal)
Alternative label
  • De Giorgi V.; Savarese I.; D'Errico A.; Gori A.; Papi F.; Colombino M.; Cristina Sini M.; Stanganelli I.; Palmieri G.; Massi D. (2014)
    CDKN2A mutations could influence the dermoscopic pattern of presentation of multiple primary melanoma: A clinical dermoscopic genetic study
    in Journal of the European Academy of Dermatology and Venereology (Online)
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • De Giorgi V.; Savarese I.; D'Errico A.; Gori A.; Papi F.; Colombino M.; Cristina Sini M.; Stanganelli I.; Palmieri G.; Massi D. (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#url
  • http://www.scopus.com/inward/record.url?eid=2-s2.0-84907855623&partnerID=q2rCbXpz (literal)
Rivista
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  • Scopu (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Division Dermatology Dept. of Surgery and Translational Medicine University of Florence Florence Italy; Unit of Cancer Genetics Institute of Biomolecular Chemistry (ICB) National Research Council (CNR) Sassari Italy; Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori IRCCS IRST Meldola Italy; Division of Pathological Anatomy Dept. of Surgery and Translational Medicine University of Florence Florence Italy (literal)
Titolo
  • CDKN2A mutations could influence the dermoscopic pattern of presentation of multiple primary melanoma: A clinical dermoscopic genetic study (literal)
Abstract
  • Background: Patients who develop cutaneous melanoma are at increased risk of developing a second primary melanoma. There are many aetiological reasons by which the risk of a second melanoma increases. Among others, genetic factors may contribute to modulating this risk. The risk of identifying a CDKN2A germline mutation increases with the number of primary melanomas and with the presence of familial history of melanoma. Patients with melanoma are especially encouraged to have regular follow-up visits with their dermatologist to perform clinical and dermatoscopic examination. In particular, dermoscopy could be very useful in multiple primary melanoma (MPM) patients. Objectives: To analyse the clinical and dermatoscopic features of multiple melanomas, focusing on those features that are more frequently found in the same patient to recognize them earlier and understand whether they appear with the similar peculiar dermatoscopic features, especially in CDKN2A carriers. Methods: Medical records of MPM patients were selected from a database including 1065 patients with histopathologically proven melanoma diagnosis, all treated at the dermatology clinic of the University of Florence from 2000 to 2013. Pictures of melanoma were independently and blindly administered to three dermatologist experts in dermoscopy to evaluate the presence or absence of ABCD criteria for each clinical image, and the main pattern for the dermoscopic images. The results were then analyzed and crossed to rate the clinical and dermoscopic features of MPM. Results: Seventy five (7.0%) of 1065 patients included in our database were found to carry an MPM disease. Among them, we selected 12 (16%) patients with three or more MPMs. The presence of the CDKN2A melanoma susceptibility gene was observed in 4/12 (33.33%) patients; two patients presented the C500G and c.5 + 1delG polymorphisms in the CDKN2A gene. In CDKN2A carriers, each patient showed a similar and specific dermatoscopic pattern in their lesions. Conclusions: Even being aware of the limitations of this study, according to hereditary characters and their modes of transmissions, we could speculate that for each patient with a CDKN2A germline mutation, it is possible to find the same kind of dermoscopical pattern among their melanocytic tumours. (literal)
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