MC1R ‘r’ allele does not increase melanoma risk in MITF E318K carriers.
Abstract Background: Population-wide screening for melanoma is not cost-effective, but genetic characterisation could facilitate risk stratification and targeted screening. Common MC1R red hair colour (RHC) variants and MITF E318K separately confer moderate melanoma susceptibility, but their interactive effects are relatively unexplored. Objectives: Evaluate whether MC1R genotypes differentially affect melanoma risk in MITF E318K+ versus E318K- individuals. Methods: Melanoma affection status and genotype data (MC1R and MITF E318K) were collated from research cohorts (five Australian and two European). In addition, RHC genotypes from E318K+ individuals with and without melanoma were extracted from databases (The Cancer Genome Atlas and Medical Genome [...]
Association of Germline Variants in Telomere Maintenance Genes (POT1, TERF2IP, ACD, TERT) with Spitzoid Morphology in Familial Melanoma: A Multi-Center Case Series.
Abstract Background: Spitzoid morphology in familial melanoma has been associated with germline variants in POT1, a telomere maintenance gene (TMG), suggesting a link between telomere biology and spitzoid differentiation. Objective: To assess if familial melanoma cases associated with germline variants in TMG (POT1, ACD, TERF2IP, and TERT) commonly exhibit spitzoid morphology. Methods: In this case series, melanomas were classified as having spitzoid morphology if at least 3 of 4 dermatopathologists reported this finding in ≥25% of tumor cells. Logistic regression was used to calculate odds ratios (OR) of spitzoid morphology compared to familial melanomas from unmatched noncarriers that were [...]
Genomic and proteomic findings in early melanoma and opportunities for early diagnosis.
Abstract Overdiagnosis of early melanoma is a significant problem. Due to subtle unique and overlapping clinical and histological criteria between pigmented lesions and the risk of mortality from melanoma, some benign pigmented lesions are diagnosed as melanoma. Although histopathology is the gold standard to diagnose melanoma, there is a demand to find alternatives that are more accurate and cost-effective. In the current "omics" era, there is gaining interest in biomarkers to help diagnose melanoma early and to further understand the mechanisms driving tumor progression. Genomic investigations have attempted to differentiate malignant melanoma from benign pigmented lesions. However, genetic biomarkers [...]
Comparative genomics provides etiological and biological insights into melanoma subtypes
Abstract Background: Metastasectomy for selected patients with melanoma was associated with improved survival in the era before effective systemic therapy. Emerging evidence shows that these benefits persist even in this era of BRAF-targeted therapy and immune checkpoint inhibitor immunotherapy. This study aimed to evaluate the outcomes of salvage metastasectomy after failure of systemic therapy. Methods: Stage 3 or 4 melanoma patients with extracranial disease progression after at least 4 weeks of systemic treatment between 2009 and 2020 were identified and categorized as resected to no evidence of disease (NED), non-progressive residual disease (NPRD), or progressive residual disease (PRD). Systemic [...]
Developing an Australian Melanoma Clinical Outcomes Registry (MelCOR): a protocol paper.
Abstract Introduction: Australia has the highest incidence of melanoma in the world with variable care provided by a diverse range of clinicians. Clinical quality registries aim to identify these variations in care and provide anonymised, benchmarked feedback to clinicians and institutions to improve patient outcomes. The Australian Melanoma Clinical Outcomes Registry (MelCOR) aims to collect population-wide, clinical-level data for the early management of cutaneous melanoma and provide anonymised feedback to healthcare providers. Methods and analysis: A modified Delphi process will be undertaken to identify key clinical quality indicators for inclusion in the MelCOR pilot. MelCOR will prospectively collect data [...]
Identifying the ‘Active Ingredients’ of an Effective Psychological Intervention to Reduce Fear of Cancer Recurrence: A Process Evaluation.
Abstract Purpose: Psychological interventions targeting fear of cancer recurrence (FCR) are effective in reducing fear and distress. Process evaluations are an important, yet scarce adjunct to published intervention trials, despite their utility in guiding the interpretation of study outcomes and optimizing intervention design for broader implementation. Accordingly, this paper reports the findings of a process evaluation conducted alongside a randomized controlled trial of a psychological intervention for melanoma patients. Methods: Men and women with a history of Stage 0-II melanoma at high-risk of developing new primary disease were recruited via High Risk Melanoma Clinics across Sydney, Australia and randomly allocated to receive the [...]