Classifying dermoscopic patterns of naevi in a case-control study of melanoma

McWhirter, Seamus; Duffy, David L.; Lee, Katie J.; Wimberley, Glen; McClenahan, Phil; Ling, Natalie; Ardigò, Marco; Schaider, Helmut; Soyer, H. Peter; Sturm, Richard A.

doi:10.1371/journal.pone.0186647

Cited by 9 publications

(14 citation statements)

References 18 publications

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“…In this study, we aimed to identify the clinical phenotype and genetic susceptibility of patients with AHM compared to pigmented melanoma drawn from the Brisbane Naevus Morphology Study (BNMS). [12][13][14][15] This paper demonstrates how a genotypic risk association profile can be constructed for such patients (Fig. 1).…”

Section: Introductionmentioning

confidence: 85%

“…Accordingly, further investigation is needed to interrogate whether other genetic polymorphisms associated with pigmentation and melanoma are associated with AHM. In this study, we aimed to identify the clinical phenotype and genetic susceptibility of patients with AHM compared to pigmented melanoma drawn from the Brisbane Naevus Morphology Study (BNMS) . This paper demonstrates how a genotypic risk association profile can be constructed for such patients (Fig.…”

Section: Introductionmentioning

confidence: 99%

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Phenotypic and genotypic analysis of amelanotic and hypomelanotic melanoma patients

Rayner

McMeniman

Duffy

et al. 2019

Acad Dermatol Venereol

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Background Amelanotic/hypomelanotic melanoma is associated with poorer outcomes due to a more advanced disease stage at diagnosis. Objective To determine phenotypic risks and genotypic associations with amelanotic/hypomelanotic melanoma to develop a clinical and genetic profile that could assist in identifying high‐risk individuals. Methods The Brisbane Naevus Morphology Study conducted from 2009 to 2016 has recruited a core of 1254 participants. Participants were drawn from a combination of volunteers from dermatology outpatient clinics, private dermatology clinics, the Brisbane Longitudinal Twin Study and QSkin study. Case participants had a personal history of melanoma and control participants no personal history of melanoma. We specifically examined seven known candidate pigmentation and melanoma genes and pigmentary phenotypic characteristics in participants with amelanotic/hypomelanotic melanoma compared to pigmented melanomas. This assayed single nucleotide polymorphisms in MC1R, TYR, HERC/OCA2, IRF4, MTAP, PLA2G6 and MITF. Results Forty‐seven participants had at least one amelanotic/hypomelanotic melanoma, and 389 had pigmented melanomas, with amelanotic/hypomelanotic melanoma patients significantly older than pigmented melanoma participants (63.3 ± 13.0 vs. 54.6 ± 15.3 years; P < 0.001). Amelanotic/hypomelanotic melanoma patients were more likely than pigmented melanoma patients to have red hair (34% vs. 15%; P = 0.01), severe hand freckling (13% vs. 5%; P = 0.01) and propensity to sunburn (63% vs. 44%; P = 0.01). MC1R R/R genotype was much more frequent in our amelanotic/hypomelanotic melanoma population (31.1% vs. 11%; P < 0.001; OR 26.4 vs. 5.9; control 1.0). Amelanotic/hypomelanotic melanoma was associated with TYR rs1126809*A/A [OR (CI 95%) 2.7 (1.1–6.8) vs. 1.2 (0.8–1.9)] and PLA2G6 rs11570734*A/A [OR (CI 95%) 3.7 (1.0–13.6) vs. 1.3 (0.9–2.0)]. The MTAP melanoma risk SNP genotype, associated with darker pigmentation, (rs4636294*A/A) was less common in amelanotic/hypomelanotic melanoma patients [OR (CI 95%) 0.8 (0.3–2.1) vs. 2.0 (1.3–3.1)]. Conclusions Knowledge of phenotypic and genotypic associations of amelanotic/hypomelanotic melanoma can help predict risks and associations of this difficult to diagnose melanoma, which may ultimately assist clinical management and patient skin self‐examination.

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Section: Introductionmentioning

confidence: 85%

Section: Introductionmentioning

confidence: 99%

Phenotypic and genotypic analysis of amelanotic and hypomelanotic melanoma patients

Rayner

McMeniman

Duffy

et al. 2019

Acad Dermatol Venereol

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“…A trained research assistant recorded the participant's height, weight, eye and skin colour, and the degree of skin freckling on the face, shoulders and dorsal hands. A count of large melanocytic naevi (≥ 5 mm) was made from high‐quality full‐body images . Statistical analysis was conducted using R statistical software (R Foundation, Vienna, Austria) (Appendix S1; see Supporting Information).…”

Section: Methodsmentioning

confidence: 99%

High naevus count and MC 1R red hair alleles contribute synergistically to increased melanoma risk

et al. 2019

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This summary relates to https://doi.Summary 黑色素瘤是皮肤癌的最危险形式:全世界约 15% 的病例致死,但通过早期发现,其生存率可优于 95%。多痣或红色毛发会增加患黑色素瘤的风险;拥有某些特定类型的MC1R基因(称为R等位基因)是红色毛发的主要原因,也使黑色素瘤风险增加。这项来自澳大利亚的研究旨在发现这两个危险因素共同增加的黑色素瘤风险是否比简单地将这两个风险水平相加得到的风险更大。611 名黑色素瘤患者和 656 名未患黑色素瘤的患者捐赠 DNA 样本,研究人员记录他们在 21 岁时大痣的数目、皮肤和眼睛颜色以及毛发颜色。作者发现,红色毛发和超过 20 颗大痣的人患黑色素瘤的可能性是0-4颗痣和黑褐色毛发的人的 10 倍。特别是从人们携带的 MC1R 基因的类型来看,有超过 20 颗痣和 MC1R R/R 基因型的人患黑色素瘤的可能性是 0-4 颗痣和有 MC1R 野生型/野生型(一致)基因型的人的 25 倍。R/R 基因型(有或没有红色毛发表型)和高痣数本身都是很强的黑色素瘤危险因素,但将它们组合在一起会导致黑色素瘤的极高风险。在澳大利亚,年龄 75 岁以下的男性发生黑色素瘤的终生绝对风险是,有超过 20 颗痣和 MC1R R/R 基因型的男性为 23.3%,女性为 19.3%,而有 0-4 颗痣和有 MC1R 野生型/野生型基因型的男性为 0.8%,女性为 0.7%。这高于其他癌症中的筛查风险阈值,因此,作者建议医生应定期检查多痣和红色毛发的患者中是否出现黑色素瘤,并建议对多痣但非红色毛发的患者也应进行检查,以确定他们是否有 MC1R R/R 基因型。

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“…Hypothesis 1 -Clinically distinct naevus distribution patterns can be identified and classified in a population, when accounting for naevi ≥ 5 mm.Hypothesis 2 -There is no correlation between hair and eye pigmentation and naevus distribution pattern for naevi ≥ 5 mm, in the Brisbane Naevus Morphology Study population.Aim 2 -To explore and define the link between hair and eye pigmentation and naevus distribution pattern in the Brisbane Naevus Morphology Study population.This thesis is based on a sub-set of data from a retrospective study. Images and data were collected and analysed from participants in the Brisbane Naevus Morphology Study (BNMS)[163][164][165]. This study was approved by the Human Research and Ethics Committee at This study was carried out in accordance with the principles of the Declaration of Helsinki.All participants were provided with a Participant Information and Consent Form.…”

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confidence: 99%

“…All participants underwent a total body skin examination by a trained research nurse or research Participants underwent total body photography with either the Vectra® WB360 3D total body imager (Canfield Scientific Inc., NJ USA) or FotoFinder® (Bad Birnbach, Germany) imaging system. Naevi ≥ 2 mm and ≥ 5 mm were digitally documented using dermoscopy[164].Participants also underwent clinical assessment by a trained research assistant. Natural hair colour at age 21 years (5 categories), eye colour (3 categories), skin colour(3 categories) and freckling density on the face, shoulders and dorsal right hand (4 categories) were documented using a scale system (Table 1).…”

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confidence: 99%

Classification of naevus distribution patterns in the Brisbane naevus morphology study

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There are multiple risk factors which contribute to cutaneous melanoma, including but not limited to, ultraviolet (UV) radiation exposure, the amount of freckling, skin and hair colour, skin phototype, and personal and familial melanoma history. One of the single strongest risk factors for cutaneous melanoma is a high naevus count. In the clinical setting, thorough total body examinations are hindered by the practical limitations of counting high numbers of naevi. To overcome this problem, multiple prediction models which estimate naevus count and cutaneous melanoma risk have been proposed. However, the progression and standardisation of these models has been hampered by the lack of independent validation, variation in methods and incorporated variables, and the absence of consensus as to what constitutes 'at risk'. Consequently, rapidly and accurately identifying these 'at risk' individuals in the clinical setting remains difficult. Individuals with multiple naevi with distinct naevus distribution patterns have been observed clinically. The concept of naevus distribution pattern has not been thoroughly described in the literature nor have these 'patterns' been formally characterised. Through this study, we aim to determine if clinically distinct naevus distribution patterns, in at risk individuals, can be recognised, characterised and classified. Furthermore, whether a stratification model can be developed for the future classification of individuals based on naevus distribution pattern. 2D and 3D whole body images were captured from 1225 high risk individuals (with personal and/or familial melanoma history) selected from the Brisbane Naevus Morphology Study (BNMS) using the FotoFinder imaging system (FotoFinder Systems GmbH, Germany) or the Vectra WB360 imaging system (Canfield Scientific Inc, USA). To ensure the accurate identification of true naevi, only naevi ≥ 5 mm were included in naevus counts. Naevi ≥ 5 mm were counted on the head and neck, back, chest and abdomen, upper limbs and lower limbs. Naevus distribution clusters were derived using mclust and k-means cluster analysis based on anatomical regional naevus counts ≥ 5 mm. Naevus counts were adjusted for both age and sex. Individual pigmentation phenotypes and genotypes were also assessed. Three distinct clusters of naevus distribution pattern were identified using mclust analysis in the BNMS population. Cluster 1 (N=427) contained participants with a high total body naevus count (mean 49 ± 34 naevi ≥ 5 mm) with naevi predominantly centralised to the trunk and either the upper or lower limbs. Cluster 2 (N=552) constituted participants with a lower total body naevus count (mean 10 ± 6 naevi ≥ 5 mm) and lower relative naevus counts at Publications included in this thesis No publications included.

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Classifying dermoscopic patterns of naevi in a case-control study of melanoma

Cited by 9 publications

References 18 publications

Phenotypic and genotypic analysis of amelanotic and hypomelanotic melanoma patients

Phenotypic and genotypic analysis of amelanotic and hypomelanotic melanoma patients

High naevus count and MC 1R red hair alleles contribute synergistically to increased melanoma risk

Classification of naevus distribution patterns in the Brisbane naevus morphology study

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