Commentaries 6 Chao JT 2nd, Loescher LJ, Soyer HP, Curiel-Lewandrowski C. Barriers to mobile teledermoscopy in primary care. J Am Acad Dermatol 2013; 69:821–4. 7 Most smartphone apps for melanoma detection are inaccurate. Health Devices 2013; 42:135. 8 Wolf JA, Moreau J, Akilov O et al. Diagnostic inaccuracy of smartphone applications for melanoma detection. JAMA Dermatol 2013; 149:422–6. 9 Hall S, Murchie P. Can we use technology to encourage self-monitoring by people treated for melanoma? A qualitative exploration of the perceptions of potential recipients. Support Care Cancer 2014; 22:1663–71.
Association between genetic factors, naevus count and dermoscopic pattern DOI: 10.1111/bjd.13578 ORIGINAL ARTICLE, p 1081 It is well known that naevogenesis is a complex process that has its critical periods in childhood and adolescence.1 Moreover, the development of naevi is influenced not only by age but also by factors such as sex, sun exposure, skin type and freckling, to name just a few.2 A growing body of evidence has suggested that naevi have a strong heritable component in which gene variants implicated in naevus development include those involved in pigmentation, cell cycle regulation, telomere function and senescence. A deep understanding of the dynamic process of naevogenesis has been offered by dermoscopy and in vivo confocal microscopy. These methods have provided new insights into the growing pattern of some naevi (lesions with peripheral globules) and the stability of other naevi typified by a reticular pattern, suggesting that dermoscopically defined subsets of acquired naevi are biologically distinct.1,3 The study by Orlow et al.4, in this issue of the BJD, evaluates the potential associations between genetics and both melanocytic naevus count and dermoscopic naevus patterns in early life. In total 853 naevi located on the backs of 290 children were dermoscopically classified and correlated with their genetic profile. Interestingly, the IRF4 rs12203952 polymorphism was very strongly associated with high naevus count, and the rs12203952 T allele was associated with increased counts of flat naevi and decreased counts of raised naevi. SNPs in IRF4 and TERT showed significant associations with globular patterns, while SNPs in CDKN1B, MTAP and PARP1 showed significant associations with reticular-patterned naevi (compared with homogeneous naevi). A SNP in CDK6 showed borderline significance with reticular-patterned naevi.
© 2015 British Association of Dermatologists
857
The present study demonstrated in a selected population of white non-Hispanic children that genetics are associated with distinct dermoscopic patterns (reticular/globular/homogeneous), as well as the number of naevi. This opens the possibility to understand better the pathways implied in naevogenesis and potentially to improve the current knowledge of melanoma development. Furthermore, this study underlines the need to correlate clinical dermoscopic findings that represent a dynamic view of naevi, including the genetic background, to have a complete overview of pathogenetic process such as naevogenesis. In our opinion this study opens the door to the research of new risk factors that can justify the frequent development of melanomas in patients lacking clinically identifiable risk factors, also considering that some nodular melanomas arising in youth are not related to predictable risk factors, but may depend on the genetic background.5 Thus, deep understanding of the polymorphisms responsible for characteristic naevus patterns may increase our knowledge of the genetic background responsible for different melanoma subtypes.6 It may also help in early identification of groups of patients needing screening programmes and dedicated education on primary and secondary prevention for melanoma. Conflicts of interest None declared. 1
Dermatology and Skin Cancer Unit, ASMN-IRCCS, Reggio Emilia, Italy 2 Department of Dermatology, University of Modena and Reggio Emilia, Modena, Italy E-mail: [email protected]
C. LONGO1 G. PELLACANI2
References 1 Zalaudek I, Ferrara G, Argenziano G. Dermoscopy insights into nevogenesis: ‘Abtropfung’ versus ‘Hochsteigerung’. Arch Dermatol 2007; 143:284. 2 Bataille V, Snieder H, MacGregor AJ et al. Genetics of risk factors for melanoma: an adult twin study of nevi and freckles. J Natl Cancer Inst 2000; 92:457–63. 3 Pellacani G, Scope A, Ferrari B et al. New insights into nevogenesis: in vivo characterization and follow-up of melanocytic nevi by reflectance confocal microscopy. J Am Acad Dermatol 2009; 61:1001–13. 4 Orlow I, Satagopan JM, Berwick M et al. Genetic factors associated with naevus count and dermoscopic patterns: preliminary results from the Study of Nevi in Children (SONIC). Br J Dermatol 2015; 172:1081–89. 5 Sturm RA, Fox C, McClenahan P et al. Phenotypic characterization of nevus and tumor patterns in MITF E318K mutation carrier melanoma patients. J Invest Dermatol 2014; 134:141–9. 6 Pellacani G, De Pace B, Reggiani C et al. Distinct melanoma types based on reflectance confocal microscopy. Exp Dermatol 2014; 23:414–18.
British Journal of Dermatology (2015) 172, pp844–860
Association between genetic factors, naevus count and dermoscopic pattern DOI: 10.1111/bjd.13578 ORIGINAL ARTICLE, p 1081 It is well known that naevogenesis is a complex process that has its critical periods in childhood and adolescence.1 Moreover, the development of naevi is influenced not only by age but also by factors such as sex, sun exposure, skin type and freckling, to name just a few.2 A growing body of evidence has suggested that naevi have a strong heritable component in which gene variants implicated in naevus development include those involved in pigmentation, cell cycle regulation, telomere function and senescence. A deep understanding of the dynamic process of naevogenesis has been offered by dermoscopy and in vivo confocal microscopy. These methods have provided new insights into the growing pattern of some naevi (lesions with peripheral globules) and the stability of other naevi typified by a reticular pattern, suggesting that dermoscopically defined subsets of acquired naevi are biologically distinct.1,3 The study by Orlow et al.4, in this issue of the BJD, evaluates the potential associations between genetics and both melanocytic naevus count and dermoscopic naevus patterns in early life. In total 853 naevi located on the backs of 290 children were dermoscopically classified and correlated with their genetic profile. Interestingly, the IRF4 rs12203952 polymorphism was very strongly associated with high naevus count, and the rs12203952 T allele was associated with increased counts of flat naevi and decreased counts of raised naevi. SNPs in IRF4 and TERT showed significant associations with globular patterns, while SNPs in CDKN1B, MTAP and PARP1 showed significant associations with reticular-patterned naevi (compared with homogeneous naevi). A SNP in CDK6 showed borderline significance with reticular-patterned naevi.
© 2015 British Association of Dermatologists
857
The present study demonstrated in a selected population of white non-Hispanic children that genetics are associated with distinct dermoscopic patterns (reticular/globular/homogeneous), as well as the number of naevi. This opens the possibility to understand better the pathways implied in naevogenesis and potentially to improve the current knowledge of melanoma development. Furthermore, this study underlines the need to correlate clinical dermoscopic findings that represent a dynamic view of naevi, including the genetic background, to have a complete overview of pathogenetic process such as naevogenesis. In our opinion this study opens the door to the research of new risk factors that can justify the frequent development of melanomas in patients lacking clinically identifiable risk factors, also considering that some nodular melanomas arising in youth are not related to predictable risk factors, but may depend on the genetic background.5 Thus, deep understanding of the polymorphisms responsible for characteristic naevus patterns may increase our knowledge of the genetic background responsible for different melanoma subtypes.6 It may also help in early identification of groups of patients needing screening programmes and dedicated education on primary and secondary prevention for melanoma. Conflicts of interest None declared. 1
Dermatology and Skin Cancer Unit, ASMN-IRCCS, Reggio Emilia, Italy 2 Department of Dermatology, University of Modena and Reggio Emilia, Modena, Italy E-mail: [email protected]
C. LONGO1 G. PELLACANI2
References 1 Zalaudek I, Ferrara G, Argenziano G. Dermoscopy insights into nevogenesis: ‘Abtropfung’ versus ‘Hochsteigerung’. Arch Dermatol 2007; 143:284. 2 Bataille V, Snieder H, MacGregor AJ et al. Genetics of risk factors for melanoma: an adult twin study of nevi and freckles. J Natl Cancer Inst 2000; 92:457–63. 3 Pellacani G, Scope A, Ferrari B et al. New insights into nevogenesis: in vivo characterization and follow-up of melanocytic nevi by reflectance confocal microscopy. J Am Acad Dermatol 2009; 61:1001–13. 4 Orlow I, Satagopan JM, Berwick M et al. Genetic factors associated with naevus count and dermoscopic patterns: preliminary results from the Study of Nevi in Children (SONIC). Br J Dermatol 2015; 172:1081–89. 5 Sturm RA, Fox C, McClenahan P et al. Phenotypic characterization of nevus and tumor patterns in MITF E318K mutation carrier melanoma patients. J Invest Dermatol 2014; 134:141–9. 6 Pellacani G, De Pace B, Reggiani C et al. Distinct melanoma types based on reflectance confocal microscopy. Exp Dermatol 2014; 23:414–18.
British Journal of Dermatology (2015) 172, pp844–860
