Several observational studies have demonstrated lower Breslow depth and lower risk of advanced or fatal melanoma in screen detected melanomas using either monthly self-examination or regular clinical examination of skin. Specificity of screening is higher with clinical rather than self-examination and improves with increased clinician training. A German study reported a 47% decrease in melanoma mortality in a screened population at average risk.r
Australian studies have shown that six-monthly specialist skin examination, supported by dermoscopy and total body photography, is effective in reducing thickness of prospectively detected melanomas, and in reducing the number of ineffectual skin lesion excisions in those at very high risk of melanoma (CDKN2A pathogenic variant carriers or equivalent).r The intervention was also cost-effective compared with current practice.r Follow Cancer Council Australia SunSmart Position statements.
Relatives who are non-carriers of an identified familial CDKN2A pathogenic variant have a higher risk of cutaneous melanoma than the general population (but lower than carrier relatives). This is probably explained by inheritance of other less penetrant melanoma susceptibility variants combined with shared environmental risks amongst family members. Less frequent (annual) melanoma surveillance may still be warranted for non-carrier relatives. (Link to Alfred Health - Melanoma risk calculator for health professionals. Link to QIMR Berghofer - Melanoma Risk Predictor)
In a Dutch based 20-year prospective follow-up study evaluating pancreatic screening with MRCP +/- EUS in CDKN2A carriers, 347 germline pathogenic variant carriers participated in surveillance and were followed for a median of 5.6 (interquartile range 2.3-9.9) years.r The cumulative incidence of pancreatic ductal adenocarcinoma (PDAC) by age 70 was 20.7%, with surveillance leading to detection of resectable, early stage PDAC; 80% of affected patients were found to have resectable disease with a third of patients diagnosed with stage I PDAC.r This compared favourably with general population data with only 10-15% of pancreatic cancers being resectable at diagnosis. 5-year overall survival rate in the study population was 32.4% compared with 5% 5-year OS in sporadic PDACs.r This study primarily consisted of patients with the CDKN2A c.225_243del variant and therefore there is still some uncertainty regarding the generalisation of this data to support surveillance in all CDKN2A pathogenic variant carriers.
If surveillance is undertaken, it should be done in a high-volume centre after discussion of the limitations of screening, including the risk of detecting benign or indeterminate pancreatic abnormalities, the potential complications of the surveillance modality used and the uncertainties about the benefit of surveillance (if any) on mortality and morbidity from pancreatic cancer. Most surveillance detected cystic lesions are small and will not warrant biopsy, surgical resection, or any other intervention. A community-based screening study of 75 high-risk individuals based on family history and underlying germline pathogenic variant (in a range of pancreatic cancer predisposition genes) detected pancreatic lesion in 58.7% of study participants on initial MRCP with 52% representing simple cysts.r The remaining 5 (6.7%) participants were further investigated with EUS+/- FNA biopsy confirming benign etiology. One participant proceeded to pancreatoduodenectomy; pathology revealed an intraductal papillary mucinous neoplasm and a low-grade pancreatic intraepithelial neoplasia (PanIN-1A).r
Not smoking is recommended because pancreatic cancer has a known association with smoking and there are reports of an increased risk of smoking-related head-and-neck cancers in CDKN2A pathogenic variant positive families.r