What Is New in Melanoma Genetics and Treatment?

Ribero, Simone; Longo, Caterina; Glass, Dan; Nathan, Paul; Bataille, Véronique

doi:10.1159/000445767

Cited by 25 publications

(20 citation statements)

References 63 publications

(68 reference statements)

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“…The alleles that render each gene significant are outlined, along with the phenotypic consequences of the causal single nucleotide polymorphisms (SNPs). The biology of pigmented lesions is then discussed, including freckling, naevi and melanoma [4] . in the last 5,000-20,000 years [5] .…”

Section: Introductionmentioning

confidence: 99%

Skin Pigmentation Genetics for the Clinic

Ainger

Jagirdar²,

Lee³

et al. 2017

Dermatology

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Human pigmentation characteristics play an important role in the effects of sun exposure, skin cancer induction and disease outcomes. Several of the genes most important for this diversity are involved in the regulation and distribution of melanin pigmentation or enzymes involved in melanogenesis itself within the melanocyte cell present in the skin, hair and eyes. The single nucleotide polymorphisms and extended haplotypes within or surrounding these genes have been identified as risk factors for skin cancer, in particular, melanoma. These same polymorphisms have been under selective pressure leading towards lighter pigmentation in Europeans in the last 5,000-20,000 years that have driven the increase in frequency in modern populations. Although pigmentation is a polygenic trait, due to interactive and quantitative gene effects, strong phenotypic associations are readily apparent for these major genes. However, predictive value and utility are increased when considering gene polymorphism interactions. In melanoma, an increased penetrance is found in cases when pigmentation gene risk alleles such as MC1R variants are coincident with mutation of higher-risk melanoma genes including CDKN2A, CDK4 and MITF E318K, demonstrating an interface between the pathways for pigmentation, naevogenesis and melanoma. The clinical phenotypes associated with germline changes in pigmentation and naevogenic genes must be understood by clinicians, and will be of increasing relevance to dermatologists, as genomics is incorporated into the delivery of personalised medicine.

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Section: Introductionmentioning

confidence: 99%

Skin Pigmentation Genetics for the Clinic

Ainger

Jagirdar²,

Lee³

et al. 2017

Dermatology

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“…Treatment of metastatic melanoma is a challenging topic; despite the recent progress, the majority of the patients will die in a relatively short time [8] . MUP is by definition a metastatic melanoma [1] .…”

Section: Discussionmentioning

confidence: 99%

Unknown Primary Melanoma: Worldwide Survey on Clinical Management

et al. 2016

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Background: How to deal with melanoma of unknown primary (MUP) origin is a debated topic in the literature. Objective: We performed a worldwide survey to inquire what clinical and investigational workup is performed as well as the physicians' perception of this disease. Methods: A questionnaire was sent via mail to clinicians involved in melanoma care from December 2015 to April 2016 using the International Dermoscopy Society website. Results: 119 physicians from 47 different countries answered the questionnaire. The most reported examination was skin examination followed by CT and/or PET scans. All the participants declared asking about previous excisions of skin lesions with 81% of them asking for a histopathological slide review of previous biopsies. Half of the participants checked for a possible vitiligo phenomenon that may explain regression of the primary lesion. BRAF, cKIT, and GNAQ mutations were screened by 32% of participants. The majority of participants (76%) applied the same treatment protocols for MUP as patients with known primary melanomas of the same AJCC stage. Conclusion: Strong heterogeneity was found between physicians dealing with MUP. Thus, a consensus document should be strongly encouraged.

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“…Ultimately, melanoma risk assessment and screening will likely be more heavily based on melanoma susceptibility genes ( CDKN2A , CDK4 , MITF , BAP1 , p14 ARF , TERT , POT1, ACD , TERF2IP , BRCA2 , PTEN , among others.) [20–22] and molecular pathology tests and criteria. However, as these technologies are not yet widely available, our guidelines provide a foundation on which to base screening in the current era.…”

Section: Future Perspectivementioning

confidence: 99%

Skin Cancer Screening: Recommendations for Data-Driven Screening Guidelines and a review of the US Preventive Services Task Force Controversy

et al. 2017

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Melanoma is usually apparent on the skin and readily detected by trained medical providers using a routine total body skin examination, yet this malignancy is responsible for the majority of skin cancer-related deaths. Currently, there is no national consensus on skin cancer screening in the USA, but dermatologists and primary care providers are routinely confronted with making the decision about when to recommend total body skin examinations and at what interval. The objectives of this paper are: to propose rational, risk-based, data-driven guidelines commensurate with the US Preventive Services Task Force screening guidelines for other disorders; to compare our proposed guidelines to recommendations made by other national and international organizations; and to review the US Preventive Services Task Force's 2016 Draft Recommendation Statement on skin cancer screening.

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What Is New in Melanoma Genetics and Treatment?

Cited by 25 publications

References 63 publications

Skin Pigmentation Genetics for the Clinic

Skin Pigmentation Genetics for the Clinic

Unknown Primary Melanoma: Worldwide Survey on Clinical Management

Skin Cancer Screening: Recommendations for Data-Driven Screening Guidelines and a review of the US Preventive Services Task Force Controversy

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