Show simple item record

dc.contributor.authorGironi, Laura Cristina
dc.contributor.authorColombo, Enrico
dc.contributor.authorPasini, Barbara
dc.contributor.authorGiorgione, Roberto
dc.contributor.authorFarinelli, Pamela
dc.contributor.authorZottarelli, Francesca
dc.contributor.authorEsposto, Elia
dc.contributor.authorZavattaro, Elisa
dc.contributor.authorAllara, Elias
dc.contributor.authorOgliara, Paola
dc.contributor.authorBetti, Marta
dc.contributor.authorDianzani, Irma
dc.contributor.authorSavoia, Paola
dc.date.accessioned2018-11-21T00:30:14Z
dc.date.available2018-11-21T00:30:14Z
dc.date.issued2018-12
dc.identifier.issn0340-3696
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/285497
dc.description.abstractGermline mutations on the CDKN2A gene, the most important known genetic factors associated with cutaneous melanomas (CMs), predispose carriers to multiple primary CMs (MPMs) with higher frequency and younger onset compared to non-carriers. Most of the largest published studies concerning clinical and histological characteristics of CMs with CDKN2A mutation carriers did not specify if the described CMs are first or subsequent to the first, and they used sporadic CMs from non-genotyped patients as controls. We conducted a single-centre observational study to compare clinical and histological CM features of 32 unrelated carriers (MUT) of 5 germline CDKN2A mutations (one of which was never previously described) compared to 100 genotyped wild-type (WT) patients. We stratified the data based on time of diagnosis, anatomical site and histological subtype of CMs, demonstrating several significant unreported differences between the two groups. MUT developed a higher number of dysplastic nevi and MPMs. We proved for the first time that anatomical distribution of CMs in MUT was independent of gender, unlike WTs. MUTs developed in situ and superficial spreading melanomas (SSMs) more frequently, with significantly higher number of SSMs on the head/neck. In MUTs, Breslow thickness was significantly lower for all invasive CMs. When CMs were stratified on the basis of the time of occurrence, statistical significance was maintained only for SSMs subsequent to the first. In WTs, Clark level was significantly higher, and ulceration was more prevalent than in MUTs. Significant differences in ulceration were observed only in SSMs. In nodular CMs, we did not find differences in terms of Breslow thickness or ulceration between WTs and MUTs. In situ CMs developed 10 years earlier in MUTs with respect to WTs, whereas no significant differences were observed in invasive CMs. In contrast to those reported previously by other authors, we did not find a difference in skin phototype.
dc.format.mediumPrint-Electronic
dc.languageeng
dc.publisherSpringer Science and Business Media LLC
dc.subjectHumans
dc.subjectMelanoma
dc.subjectSkin Neoplasms
dc.subjectGenetic Predisposition to Disease
dc.subjectRisk Factors
dc.subjectCase-Control Studies
dc.subjectPedigree
dc.subjectDNA Mutational Analysis
dc.subjectAge Distribution
dc.subjectSex Distribution
dc.subjectHeredity
dc.subjectHeterozygote
dc.subjectPhenotype
dc.subjectGerm-Line Mutation
dc.subjectAdult
dc.subjectMiddle Aged
dc.subjectEuropean Continental Ancestry Group
dc.subjectItaly
dc.subjectFemale
dc.subjectMale
dc.subjectCyclin-Dependent Kinase Inhibitor p16
dc.subjectYoung Adult
dc.subjectBiomarkers, Tumor
dc.titleMelanoma-prone families: new evidence of distinctive clinical and histological features of melanomas in CDKN2A mutation carriers.
dc.typeArticle
prism.endingPage784
prism.issueIdentifier10
prism.publicationDate2018
prism.publicationNameArch Dermatol Res
prism.startingPage769
prism.volume310
dc.identifier.doi10.17863/CAM.32855
dcterms.dateAccepted2018-09-08
rioxxterms.versionofrecord10.1007/s00403-018-1866-0
rioxxterms.licenseref.urihttp://www.rioxx.net/licenses/all-rights-reserved
rioxxterms.licenseref.startdate2018-12
dc.contributor.orcidGironi, Laura Cristina [0000-0002-7298-4446]
dc.contributor.orcidAllara, Elias [0000-0002-1634-8330]
dc.identifier.eissn1432-069X
rioxxterms.typeJournal Article/Review
cam.issuedOnline2018-09-15
rioxxterms.freetoread.startdate2019-01-01


Files in this item

Thumbnail

This item appears in the following Collection(s)

Show simple item record