Genetic variation in IRF4 expression modulates growth characteristics, tyrosinase expression and interferon‐gamma response in melanocytic cells

Abstract

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Bad company: Microenvironmentally mediated resistance to targeted therapy in melanoma

“…The transformation of melanocytes into melanoma requires a burden of mutations that can be initiated by exogenous and endogenous cues. Sporadic melanomas (approximately 90% of all melanoma cases) are frequently driven by low-to moderate-risk alleles that have high prevalence and low penetrance, indicating that environmental cues are key for malignant transformation (Chhabra et al, 2018;Eggermont, Spatz, & Robert, 2014;Hawryluk & Tsao, 2014;Schadendorf, Fisher, et al, 2015;Ward, Lazovich, & Hordinsky, 2012). Currently however, the pathway that has the highest oncogenic and therapeutic relevance in melanoma is the mitogen-activated protein kinase (MAPK) cascade, which is not attributable to direct UV damage (Hodis et al, 2012).…”

Iris pigmented lesions as a marker of cutaneous melanoma risk: an Australian case-control study

“…OCA2 does not have a large effect on skin freckling and naevus count, 40 whereas IRF4 is a major gene for skin freckling and naevi 41 and has a growth regulatory effect on cutaneous melanocytes. 42 We found that other known melanocytic naevus genes, MTAP (rs7023329) and PLA2G6 (rs132972), are not associated with iris pigmented lesions. 16 Despite their common embryological origin, it appears that the spectrum of genes influencing the development of iris pigmented lesions are different from their cutaneous counterparts (Table S4; see Supporting Information).…”

“…Our study highlighted two genes, OCA2 and IRF4 , that were associated with iris colour and iris pigmented lesions. OCA2 does not have a large effect on skin freckling and naevus count, whereas IRF4 is a major gene for skin freckling and naevi and has a growth regulatory effect on cutaneous melanocytes . We found that other known melanocytic naevus genes, MTAP (rs7023329) and PLA2G6 (rs132972), are not associated with iris pigmented lesions .…”

Dermoscopic and molecular correlation of melanocytic naevi

“…For example, as longitudinal data has observed the structureless/homogeneous brown pattern to change to or from either reticular or globular pattern 33 , it is likely to represent a heterogeneous group of naevi 37 . Moreover these naevi can be histopathologically junctional or compound naevi, therefore demonstrate overlapping histopathologic features with dermoscopically globular and reticular naevi 32 . It is also yet to be determined if mixed pattern naevi represent a distinct entity, or belong to globular or reticular naevi from a clinico-pathologic perspective 37 .…”

“…New York, U.S.A.) adapted a dermoscopic pattern classification for naevi based on observations outlined by Hoffman-Wellenhof et al for clinically atypical naevi 32 . Accordingly, the existence of four dermoscopic pattern groups: (1) globular pattern, (2) reticular pattern,…”