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Importance: The incidence of melanoma in situ (MIS) has increased significantly over the past decades, and traditional guidelines for treatment of MIS have been excision with a 5-mm clinical margin; however, current Australian and other guidelines now recommend 5- to 10-mm margins. This changed recommendation was largely driven by the outcomes of studies using Mohs micrographic surgery, and recent studies using Mohs micrographic surgery are advocating for even wider excisions up to 18 mm for clearance., Objective: To assess the rate of recurrence of MIS excised with a 5-mm margin., Design, Setting, and Participants: This case series studied all MIS lesions from a single private dermatology clinic between January 1, 2011, and November 30, 2018. The criteria for inclusion were a documented 5-mm excisional margin on operation report and more than 5 years of site-specific follow-up after wide local excision. Lesions were excluded if the excisional margin was more than 5 mm or undocumented, there was less than 5 years of follow-up, or they required more than 1 wide local excision. Data analysis was performed January 30 to February 25, 2024., Intervention: Wide local excision with 5-mm margin., Results: A total of 351 MISs were identified from 292 patients (mean [SD] age, 60.3 [11.8] years; 162 females [55.5%]). Superficial spreading melanoma was the most common subtype diagnosed (177 lesions [50.4%]), followed by lentigo maligna (107 lesions [30.5%]) and lentiginous MIS (67 lesions [19.1%]). The trunk was the most common location of lesions (168 lesions [47.9%]), followed by upper limb (96 lesions [27.4%]) and lower limb (59 lesions [16.8%]). Scalp was the least common location (2 lesions [0.6%]). Most of the lesions were small, with 274 lesions (78.1%) having a length less than 10 mm and 312 lesions (88.9%) having a width less than 10 mm. A total of 348 lesions (99.1%) did not have clinical recurrence after excision with a 5-mm clinical margin following then current guidelines. A total of 3 lesions (0.9%) experienced local recurrence with no metastatic spread., Conclusions and Relevance: This case series found that excision with a 5-mm margin for MIS of smaller size (<10 mm) on low-risk body sites had a low rate of recurrence. Conservative 5-mm excisional margin is likely to be suitable for small MIS on lower-risk body sites.

Background/objective: Photographic aides are increasingly used in melanoma surveillance. We report melanoma characteristics detected using traditional surveillance without photographic technologies., Methods: Retrospective study of melanomas diagnosed by three dermatologists at a private dermatology practice over 7 years. Patients underwent full skin examinations with dermoscopy and suspect lesions were excised or biopsied. Total body photography (TBP) and serial digital dermoscopic imaging (SDDI) were not used. Patient demographics, melanoma subtype and thickness, location, biopsy technique and keratinocyte cancers diagnosed at the same visit were recorded. Ratio of in situ to invasive melanomas was calculated. Melanoma risk factors were recorded for 69 randomly-selected patients., Results: 492 patients were diagnosed with 615 melanomas during 579 visits. 505 (82%) were in situ (in situ to invasive ratio of 4.6:1). Of the invasive melanomas, 85.5% had a Breslow thickness <0.8 mm, 10 (9.1%) 0.8-1 mm and 6 (5.5%) >1 mm. 43.3% of in situ melanomas were lentiginous or lentigo maligna and 41.6% were superficial spreading melanomas (SSM). Of invasive melanomas, 24.3% were lentigo maligna melanoma and 59.5% were SSM. 48.4% of melanomas were diagnosed by shave procedures. Where risk factors were known, 25% were very-high-risk and 43% had a history of melanoma. Keratinocyte carcinoma was diagnosed by biopsy at 26.1% of visits. Studies using TBP and/or SDDI report in situ to invasive ratios of 0.59:1 to 2.17:1., Conclusion: Tradiational melanoma surveillance with immediate biopsy of suspect lesions results in high in situ to invasive ratios. Studies using photographic surveillance show lower ratios of in situ to invasive disease., (© 2023 The Authors. Australasian Journal of Dermatology published by John Wiley & Sons Australia, Ltd on behalf of Australasian College of Dermatologists.)

Amelanotic/hypomelanotic melanoma is a clinicopathologic subtype with absent or minimal melanin. This study assessed previously reported coding variants in albinism genes (TYR, OCA2, TYRP1, SLC45A2, SLC24A5, LRMDA) and common intronic, regulatory variants of OCA2 in individuals with amelanotic/hypomelanotic melanoma, pigmented melanoma cases and controls. Exome sequencing was available for 28 individuals with amelanotic/hypomelanotic melanoma and 303 individuals with pigmented melanoma, which were compared to whole exome data from 1144 Australian controls. Microarray genotyping was available for a further 17 amelanotic/hypomelanotic melanoma, 86 pigmented melanoma, 147 melanoma cases (pigmentation unknown) and 652 unaffected controls. Rare deleterious variants in TYR/OCA1 were more common in amelanotic/hypomelanotic melanoma cases than pigmented melanoma cases (set mixed model association tests P = 0.0088). The OCA2 hypomorphic allele p.V443I was more common in melanoma cases (1.8%) than controls (1.0%, X2 P = 0.02), and more so in amelanotic/hypomelanotic melanoma (4.4%, X2 P = 0.007). No amelanotic/hypomelanotic melanoma cases carried an eye and skin darkening haplotype of OCA2 (including rs7174027), present in 7.1% of pigmented melanoma cases (P = 0.0005) and 9.4% controls. Variants in TYR and OCA2 may play a role in amelanotic/hypomelanotic melanoma susceptibility. We suggest that somatic loss of function at these loci could contribute to the loss of tumor pigmentation, consistent with this we found a higher rate of somatic mutation in TYR/OCA2 in amelanotic/hypomelanotic melanoma vs pigmented melanoma samples (28.6% vs 3.0%; P = 0.021) from The Cancer Genome Atlas Skin Cutaneous Melanoma collection., Competing Interests: I have read the journal's policy and the authors of this manuscript have the following competing interests: HPS is a shareholder of MoleMap NZ Limited and e-derm consult GmbH, and undertakes regular teledermatological reporting for both companies. HPS is a Medical Consultant for Canfield Scientific Inc. and MetaOptima Technology Inc., a Medical Advisor for First Derm, and has a Medical Advisory Board Appointment with MoleMap NZ Limited. This does not alter our adherence to PLOS ONE policies on sharing data and materials. The other authors have no conflicts of interest to declare.

Melanoma incidence is increasing globally with Australia having the highest incidence in the world. Pregnancy-associated melanoma is recognized in the published work; however, significant knowledge deficiencies exist. We present the case of a 34-year-old woman with dysplastic nevus syndrome who over a 15-year period developed a total of nine melanomas, with eight clustered around an 18-month peri- to post-partum period. The first eight lesions were in situ with the ninth lesion invasive. No metastatic disease was observed over the 18-year follow-up period. This case identifies the potential sensitivity of a subset of melanomas to pregnancy-related factors, with particular relevance to the development of lesions in the post-partum period. We suggest that patients with a history of any documented melanoma risk factors, particularly dysplastic nevus syndrome, require close monitoring especially during pregnancy and early post-partum., (© 2020 Japanese Dermatological Association.)

Background: Skin phenotype, host genotype and ultraviolet (UV) damage play a role in the development of melanoma., Objectives: To ascertain whether the level of UV damage at the site of melanomas was associated with genetic polymorphisms., Methods: Deep phenotyping was performed on 1244 individuals; 281 with multiple primary melanomas (MPMs), 304 with single primary melanoma (SPM) and 659 convenience controls. Genotype data was generated using the Illumina CoreExome microarray platform, assaying over 500 000 single-nucleotide polymorphisms. A subset of variants were combined to assess a polygenic risk score (PRS) for melanoma., Results: Most MPM cases were diagnosed in patients aged > 40 years, in sites with visible chronic UV damage. Women and those diagnosed at age ≤ 40 years were less likely to have perilesional UV damage. Patients with MPM had higher frequencies of MITF E318K, MC1R R-alleles and the ASIP risk haplotype. Individuals who had melanoma in a visibly UV-damaged site were more likely to carry MC1R rs75570604 [odds ratio (OR) 2·5], 9q31.2 rs10816595 (OR 1·4) and MTAP rs869329 (OR 1·4). These same alleles were more common in patients with MPM who were diagnosed at age ≤ 40 years. The mean PRS was significantly higher in MPM than in SPM and controls. Naevus count was comparable in early-onset MPM cases and those diagnosed at age > 40 years., Conclusions: Our cohort demonstrated higher frequencies of previously reported alleles associated with melanoma. MPM melanomas more commonly occur in UV-damaged areas, and these individuals are more likely to carry MC1R red hair colour alleles. Awareness of the interplay of genetic vulnerability with UV damage can stratify risk and guide recommendations for melanoma screening. What's already known about this topic? Skin phenotype, host genotype and ultraviolet (UV) damage all play a role in melanoma development. One of the main risk factors is a personal history of melanoma; second and subsequent primary melanomas account for over 20% of all melanomas registered in Queensland. Multiple loci are associated with melanoma risk, including many low-penetrance loci, which may have a cumulatively significant risk. Population-wide screening programmes for melanoma are not yet economically viable. What does this study add? Patients diagnosed with melanoma at age ≤ 40 years were more likely than older patients to have melanomas in non-UV-damaged sites. Patients with multiple melanomas had higher frequencies of MITF E318K, MC1R R-alleles, and the ASIP extended risk haplotype than patients with single melanoma. CDKN2A, MC1R and MTAP variants were more frequent in patients who developed melanomas at a younger age, but also in those whose melanomas were all on visibly UV-damaged sites. What is the translational message? Incorporating these genetic findings into the known risk factors of skin phenotype and visible UV damage may allow for a more customized and economically feasible approach to early detection of melanoma, particularly in younger patients. Plain language summary available online., (© 2019 British Association of Dermatologists.)

Shave excision is a simple and cost-effective technique for the removal of suitable skin lesions. We performed a prospective study over six months, collecting data from pigmented lesions that were treated with shave excision by dermatologists. Only shave excisions with the intent to remove the lesion in toto were included. A total of 349 lesions were included in this study, 50 (14%) of these were melanomas and no melanoma diagnosed had deep margin involvement, while 13 (26%) had lateral margin involvement., (© 2020 The Australasian College of Dermatologists.)

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., (© 2019 European Academy of Dermatology and Venereology.)

Background/objectives: The management of dysplastic naevi based on histopathological grading is a contentious issue. Comprehensive management guidelines are lacking and the approach taken varies between clinicians. The authors sought to understand how Australian dermatologists approach the management of biopsy-proven dysplastic naevi, and the impact of grading of dysplasia upon this management., Methods: In total, 547 Fellows of the Australasian College of Dermatologists were surveyed and 218 responses were collected (40% response rate)., Results: Although all dermatologists surveyed would re-excise an incompletely removed severely dysplastic naevus, opinion was divided over whether to treat such a lesion as an in situ melanoma or a dysplastic naevus, with 55% of respondents using a 5-mm margin and the remainder opting for narrow margin re-excision. When the same lesion was reported to be clear of margins by 1 mm after biopsy and the clinical suspicion for melanoma was high, 44% would re-excise with a 5-mm margin., Conclusions: The approach of Australian dermatologists to the management of dysplastic naevi varies between clinicians, reflecting the problems raised by the validity of histopathological grading., (© 2017 The Australasian College of Dermatologists.)

Background/objectives: Previous studies have shown that sunscreen usage, sun-protection measures and self-examination rates in patients with single primary melanomas (SPM) are similar to that in the general population. This study hypothesises that these rates would be different in a population with multiple primary melanomas (MPM). We further hypothesise that there would be a sex difference in melanoma location in patients with MPM. The objectives of this study were to determine skin protection measures, self-examinations and melanoma location in a cohort of patients with MPM., Methods: A survey was conducted on 137 patients with MPM examining their sun-protection measures, skin self-examination rates and medical and phenotypic characteristics. These data were combined with a review of their medical records to examine the patients' skin cancer history., Results: Patients with MPM had higher rates of skin self-evaluation (74% vs 22%), sunscreen usage (70% vs 45%) and other sun-protection measures (95% vs 46%) than has been published for patients with a history of a SPM. We have also shown that women have a higher risk of developing melanomas on their arms (p < 0.01) and lower legs (p < 0.05) than men., Conclusions: This report showed the rates of skin self-examination, sunscreen usage and other sun-protection methods in patients with MPM is higher than in studies of patients with SPM. It also highlighted sex differences in terms of melanoma location for patients with MPM. Further studies to examine the cause of the differences in these forms of protective behaviour could help improve the utilisation of these important preventative measures in all patients., (© 2015 The Australasian College of Dermatologists.)

Background: Patients with a history of non-melanoma skin cancer (NMSC) have a 50% risk of developing subsequent NMSC.(13) Currently there are limited data on the association between multiple squamous cell carcinomas (SCC) and the risk of other cancers, including melanomas., Objective: To assess the risk factors in a cohort of 210 Australians with a history of multiple invasive SCC, focusing on the association between multiple SCC and other cancers., Methods: Data were collected from patients of a private practice in south-east Queensland., Results: A fair complexion and childhood sun exposure were found to be common in this cohort. Approximately half the patients who had their first SCC at or before the age of 30 years subsequently developed a melanoma. There was also an increased risk of internal cancer, prostate cancer being the commonest, followed by bowel and breast cancer., Conclusion: Patients with a history of multiple invasive SCC should be aware of their increased risk of future NMSC and of melanomas. The results of thisstudy suggest such patients and their care providers should also consider an appropriate screening for internal malignancies., (© 2015 The Australasian College of Dermatologists.)

Melanoma incidence in Australia remains the highest in the world; hence understanding its causation is paramount for future therapeutic developments. Multiple primary melanomas are also common occurrences among the Australian population with identified risk factors such as personal and family history of melanoma, fair skin type, dysplastic naevus syndrome and history of significant ultraviolet exposure. The roles of both environmental and genetic factors have been elucidated in melanoma development, but the synergy of interactions between the two remains complex given the heterogeneous nature of the disease. We present a rare case of a 57-year-old female with 20 cutaneous melanomas and review the role of genetic and environmental factors in development of her multiple primary melanomas.

Melanoma is a multifactorial disease with a strong genetic component and known risk factors such as excessive ultraviolet exposure, intermittent sunburns and fair skin type. The prognosis is poor if diagnosis is delayed, in spite of recent treatment advances. Evidence is mounting that the incidence of melanoma is higher in the immunosuppressed and individuals with highly stressful occupations. We present a case series of individuals diagnosed with multiple cutaneous melanomas over a few months to 1 year. All had encountered psychological stressors in their lives, and the melanomas were diagnosed briefly after encountering these stressors. No known causes of immunosuppression were detected to explain the sporadic occurrence of melanomas in these individuals. There is evidence in the current literature that stress can lead to immune disregulation, predisposing an individual to various disease states including melanoma. Stress hormones such as norepinephrine have been shown to cause upregulation of cytokines such as Interleukin 6 and 8, which are proangiogenic and support tumour progression. Coupled with genetic and environmental factors, stress appears to play a role in melanoma formation and progression. Large prospective studies are required to study the link between stress and melanoma and gain further insight into the etiology of melanoma.

Background: There are various known familial and environmental risk factors that influence the risk for melanoma. This study sought to define the risk factors for multiple primary melanoma., Methods: A telephone survey of patients with multiple primary melanomas was conducted from a private practice in south-east Queensland, in order to examine various risk factors in this cohort., Results: Our findings of high rates of family history of melanoma (37%), and of dysplastic naevi (42%) support the influence of genotype in this high-risk group. A family history of multiple primary melanomas, seen in 17% of our patients, is a risk factor not previously reported in similar cohort studies. Sixty-eight per cent of patients had an equal or lesser degree of invasive malignancy in subsequent melanomas. Most multiple primary melanoma patients in this group (86.6%) were conducting self skin examination at least once per month. With regards to sun-protective behaviour, 85% reported regular sunscreen use and 92% reported regular use of sun-protective clothing; however, fewer had done this in childhood., Conclusions: Enhanced knowledge of the genetic and environmental risk factors for multiple primary melanomas can assist clinicians in assessing risk and planning surveillance of patients., (© 2010 The Authors. Australasian Journal of Dermatology © 2010 The Australasian College of Dermatologists.)

Objective: To describe the diagnostic performance of SolarScan (Polartechnics Ltd, Sydney, Australia), an automated instrument for the diagnosis of primary melanoma., Design: Images from a data set of 2430 lesions (382 were melanomas; median Breslow thickness, 0.36 mm) were divided into a training set and an independent test set at a ratio of approximately 2:1. A diagnostic algorithm (absolute diagnosis of melanoma vs benign lesion and estimated probability of melanoma) was developed and its performance described on the test set. High-quality clinical and dermoscopy images with a detailed patient history for 78 lesions (13 of which were melanomas) from the test set were given to various clinicians to compare their diagnostic accuracy with that of SolarScan., Setting: Seven specialist referral centers and 2 general practice skin cancer clinics from 3 continents. Comparison between clinician diagnosis and SolarScan diagnosis was by 3 dermoscopy experts, 4 dermatologists, 3 trainee dermatologists, and 3 general practitioners., Patients: Images of the melanocytic lesions were obtained from patients who required either excision or digital monitoring to exclude malignancy., Main Outcome Measures: Sensitivity, specificity, the area under the receiver operator characteristic curve, median probability for the diagnosis of melanoma, a direct comparison of SolarScan with diagnoses performed by humans, and interinstrument and intrainstrument reproducibility., Results: The melanocytic-only diagnostic model was highly reproducible in the test set and gave a sensitivity of 91% (95% confidence interval [CI], 86%-96%) and specificity of 68% (95% CI, 64%-72%) for melanoma. SolarScan had comparable or superior sensitivity and specificity (85% vs 65%) compared with those of experts (90% vs 59%), dermatologists (81% vs 60%), trainees (85% vs 36%; P =.06), and general practitioners (62% vs 63%). The intraclass correlation coefficient of intrainstrument repeatability was 0.86 (95% CI, 0.83-0.88), indicating an excellent repeatability. There was no significant interinstrument variation (P = .80)., Conclusions: SolarScan is a robust diagnostic instrument for pigmented or partially pigmented melanocytic lesions of the skin. Preliminary data suggest that its performance is comparable or superior to that of a range of clinician groups. However, these findings should be confirmed in a formal clinical trial.