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Articles by S Puig
Total Records ( 3 ) for S Puig
  G Pellacani , M Vinceti , S Bassoli , R Braun , S Gonzalez , P Guitera , C Longo , A. A Marghoob , S. W Menzies , S Puig , A Scope , S Seidenari and J. Malvehy
 

Objective  To test the interobserver and intraobserver reproducibility of the standard terminology for description and diagnosis of melanocytic lesions in in vivo confocal microscopy.

Design  A dedicated Web platform was developed to train the participants and to allow independent distant evaluations of confocal images via the Internet.

Setting  Department of Dermatology, University of Modena and Reggio Emilia, Modena, Italy.

Participants  The study population was composed of 15 melanomas, 30 nevi, and 5 Spitz/Reed nevi. Six expert centers were invited to participate at the study.

Intervention  Evaluation of 36 features in 345 confocal microscopic images from melanocytic lesions.

Main Outcome Measure  Interobserved and intraobserved agreement, by calculating the Cohen statistics measure for each descriptor.

Results  High overall levels of reproducibility were shown for most of the evaluated features. In both the training and test sets there was a parallel trend of decreasing values as deeper anatomic skin levels were evaluated. All of the features, except 1, used for melanoma diagnosis, including roundish pagetoid cells, nonedged papillae, atypical cells in basal layer, cerebriform clusters, and nucleated cells infiltrating dermal papillae, showed high overall levels of reproducibility. However, less-than-ideal reproducibility was obtained for some descriptors, such as grainy appearance of the epidermis, junctional thickening, mild atypia in basal layer, plump bright cells, small bright cells, and reticulated fibers in the dermis.

Conclusion  The standard consensus confocal terminology useful for the evaluation of melanocytic lesions was reproducibly recognized by independent observers.

  S Kalkhoran , O Milne , I Zalaudek , S Puig , J Malvehy , J. W Kelly and A. A. Marghoob
 

Background  Nodular melanoma (NM), representing 15% to 30% of all melanomas, constitutes nearly half of all melanomas thicker than 2 mm. Nodular melanoma frequently lacks clinical features seen in other melanoma subtypes and has a faster growth rate. We reviewed a series of cases of NM that was less than 1.3 mm thick to identify historical, clinical, and dermoscopic factors that may facilitate earlier diagnosis of NM, with the hope of reducing its associated morbidity and mortality.

Observations  The thin NM lesions we analyzed had a rather subtle clinical appearance, often lacking the ABCD (asymmetry, border irregularity, color variegation, and diameter greater than 6 mm) criteria. On dermoscopy, most lesions had a homogeneous disorganized asymmetric pattern or a featureless pattern with atypical vessels. Although many dermoscopic features seen in other melanoma subtypes were frequently absent, some features such as a blue-white veil, structureless areas, and atypical vascular structures were often identified.

Conclusions  The often unremarkable clinical presentation of NM necessitates physicians and patients to be wary of new or changing lesions. Dermoscopy may help increase suspicion in early NM because dermoscopic features are typically more suggestive of malignancy than clinical ones. We hope that secondary prevention efforts combined with prompt dermatologic consultations will allow for the timely diagnosis and management of NM.

  F Demenais , H Mohamdi , V Chaudru , A. M Goldstein , J. A Newton Bishop , D. T Bishop , P. A Kanetsky , N. K Hayward , E Gillanders , D. E Elder , M. F Avril , E Azizi , P van Belle , W Bergman , G Bianchi Scarra , B Bressac de Paillerets , D Calista , C Carrera , J Hansson , M Harland , D Hogg , V Hoiom , E. A Holland , C Ingvar , M. T Landi , J. M Lang , R. M Mackie , G. J Mann , M. E Ming , C. J Njauw , H Olsson , J Palmer , L Pastorino , S Puig , J Randerson Moor , M Stark , H Tsao , M. A Tucker , P van der Velden , X. R Yang , N Gruis and and the Melanoma Genetics Consortium
  Background

Carrying the cyclin-dependent kinase inhibitor 2A (CDKN2A) germline mutations is associated with a high risk for melanoma. Penetrance of CDKN2A mutations is modified by pigmentation characteristics, nevus phenotypes, and some variants of the melanocortin-1 receptor gene (MC1R), which is known to have a role in the pigmentation process. However, investigation of the associations of both MC1R variants and host phenotypes with melanoma risk has been limited.

Methods

We included 815 CDKN2A mutation carriers (473 affected, and 342 unaffected, with melanoma) from 186 families from 15 centers in Europe, North America, and Australia who participated in the Melanoma Genetics Consortium. In this family-based study, we assessed the associations of the four most frequent MC1R variants (V60L, V92M, R151C, and R160W) and the number of variants (1, ≥2 variants), alone or jointly with the host phenotypes (hair color, propensity to sunburn, and number of nevi), with melanoma risk in CDKN2A mutation carriers. These associations were estimated and tested using generalized estimating equations. All statistical tests were two-sided.

Results

Carrying any one of the four most frequent MC1R variants (V60L, V92M, R151C, R160W) in CDKN2A mutation carriers was associated with a statistically significantly increased risk for melanoma across all continents (1.24 x 10–6P ≤ .0007). A consistent pattern of increase in melanoma risk was also associated with increase in number of MC1R variants. The risk of melanoma associated with at least two MC1R variants was 2.6-fold higher than the risk associated with only one variant (odds ratio = 5.83 [95% confidence interval = 3.60 to 9.46] vs 2.25 [95% confidence interval = 1.44 to 3.52]; Ptrend = 1.86 x 10–8). The joint analysis of MC1R variants and host phenotypes showed statistically significant associations of melanoma risk, together with MC1R variants (.0001 ≤ P ≤ .04), hair color (.006 ≤ P ≤ .06), and number of nevi (6.9 x 10–6P ≤ .02).

Conclusion

Results show that MC1R variants, hair color, and number of nevi were jointly associated with melanoma risk in CDKN2A mutation carriers. This joint association may have important consequences for risk assessments in familial settings.

 
 
 
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