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Why, Who and How We Should Screen for Melanoma

  • Cancer Genomics (K Snape and H Hanson, Section Editors)
  • Published:
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Abstract

Purpose of Review

Malignant melanoma is one of the deadliest skin cancers worldwide, and its incidence continues to rise. Discrepancies are observed worldwide in the recommendations for dermatological and genetic screening, in addition to follow-up guidelines for patients diagnosed with melanoma. This short review aims to summarise why there is a need for uniform screening guidelines and how to identify high-risk patients who would benefit from screening. Finally, it also reviews different modalities to monitor high-risk patients.

Recent Findings

It has been reported that identifying high-risk individuals leads to a higher pick-up rate of early stage melanomas in those individuals, which is important to ensure good prognosis and survival rates. The British Association of Dermatology has defined high-risk individuals as having > 10 × relative risk of developing melanoma compared to the general population and has advised against routine genetic testing in all melanoma patients. Guidance for eligibility criteria is provided within the National Genomic Test Directory and recommends panel testing for the following genes: CDK2N2A, CDK4 and BAP1 in select individuals. For the purpose of monitoring skin lesions, in vivo dermoscopy has been described to greatly increase diagnostic accuracy for the detection of melanoma due to its ability to show morphological features of melanocytic lesions. Sequential imaging or mole mapping has also been described as a useful monitoring technique in high-risk individuals to detect minor modifications that may indicate early malignancy.

Summary

Screening high-risk individuals is important to improve outcomes. Future studies in genetics are necessary to identify unidentified susceptibility genes as the current panel only detects mutations in 20% of families with melanoma. Artificial intelligence is likely to be of importance in the early detection of melanoma when combined with dermoscopic imaging.

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References

  1. Karimkhani C, Green AC, Nijsten T, Weinstock MA, Dellavalle RP, Naghavi M, et al. The global burden of melanoma: Results from the Global Burden of Disease Study 2015. Br J Dermatol. 2017;177(1):134–40.

    Article  CAS  Google Scholar 

  2. Cancer Research UK. Melanoma skin cancer statistics. In: Statistics by cancer type. 2021. www.cancerresearchuk.org. Accessed 29 May 2022.

  3. Ferris LK, Saul MI, Lin Y, Ding F, Weinstock MA, Geller AC, et al. A large skin cancer screening quality initiative: Description and first-year outcomes. JAMA Oncol. 2017;3(8):1112–5.

    Article  Google Scholar 

  4. Epstein DS, Lange JR, Gruber SB, Mofid M, Koch SE. Is physician detection associated with thinner melanomas? JAMA. 1999;281(7):640–3.

    Article  CAS  Google Scholar 

  5. Argenziano G, Mordente I, Ferrara G, Sgambato A, Annese P, Zalaudek I. Dermoscopic monitoring of melanocytic skin lesions: Clinical outcome and patient compliance vary according to follow-up protocols. Br J Dermatol. 2008;159(2):331–6.

    Article  CAS  Google Scholar 

  6. Kittler H, Guitera P, Riedl E, Avramidis M, Teban L, Fiebiger M, et al. Identification of clinically featureless incipient melanoma using sequential dermoscopy imaging. Arch Dermatol. 2006;142(9):1113–9.

    Article  Google Scholar 

  7. Menzies SW, Gutenev A, Avramidis M, Batrac A, McCarthy WH. Short-term digital surface microscopic monitoring of atypical or changing melanocytic lesions. Arch Dermatol. 2001;137(12):1583–9.

    Article  CAS  Google Scholar 

  8. Kanaki T, Stang A, Gutzmer R, Zimmer L, Chorti E, Sucker A, et al. Impact of American Joint Committee on Cancer 8th edition classification on staging and survival of patients with melanoma. Eur J Cancer. 2019;119:18–29.

  9. Wolff T, Tai E, Miller T. Screening for skin cancer: an update of the evidence for the U.S. Preventive Services Task Force. Ann Intern Med. 2009;150(3):194–8.

  10. Waldmann A, Nolte S, Weinstock MA, Breitbart EW, Eisemann N, Geller AC, et al. Skin cancer screening participation and impact on melanoma incidence in Germany – an observational study on incidence trends in regions with and without population-based screening. Br J Cancer. 2012;106(5):970–4.

    Article  CAS  Google Scholar 

  11. Choudhury K, Volkmer B, Greinert R, Christophers E, Breitbart EW. Effectiveness of skin cancer screening programmes. Br J Dermatol. 2012;167(Suppl 2):94–8.

    Article  Google Scholar 

  12. Rhodes AR. Melanocytic precursors of cutaneous melanoma. Estimated risks and guidelines for management. Med Clin North Am. 1986;70(1):3–37.

  13. Gandini S, Sera F, Cattaruzza MS, Pasquini P, Zanetti R, Masini C, et al. Meta-analysis of risk factors for cutaneous melanoma: III. Family history, actinic damage and phenotypic factors. Eur J Cancer. 2005;41(14):2040–59.

  14. Dennis LK, Vanbeek MJ, Beane Freeman LE, Smith BJ, Dawson DV, Coughlin JA. Sunburns and risk of cutaneous melanoma: Does age matter? A comprehensive meta-analysis Ann Epidemiol. 2008;18(8):614–27.

    Article  Google Scholar 

  15. Pomerantz H, Huang D, Weinstock MA. Risk of subsequent melanoma after melanoma in situ and invasive melanoma: A population-based study from 1973 to 2011. J Am Acad Dermatol. 2015;72(5):794–800.

    Article  Google Scholar 

  16. Kanzler MH, Swetter SM. Malignant melanoma. J Am Acad Dermatol. 2003;48(5):780–3.

    Article  Google Scholar 

  17. Bataille V, Bishop JA, Sasieni P, Swerdlow AJ, Pinney E, Griffiths K, et al. Risk of cutaneous melanoma in relation to the numbers, types and sites of naevi: A case-control study. Br J Cancer. 1996;73(12):1605–11.

    Article  CAS  Google Scholar 

  18. Tucker MA, Halpern A, Holly EA, Hartge P, Elder DE, Sagebiel RW, et al. Clinically recognized dysplastic nevi. A central risk factor for cutaneous melanoma. JAMA. 1997;277(18):1439–44.

  19. Slade J, Marghoob AA, Salopek TG, Rigel DS, Kopf AW, Bart RS. Atypical mole syndrome: Risk factor for cutaneous malignant melanoma and implications for management. J Am Acad Dermatol. 1995;32(3):479–94.

    Article  CAS  Google Scholar 

  20. Bishop DT, Demenais F, Goldstein AM, Bergman W, Bishop JN, Bressac-de Paillerets B, et al. Geographical variation in the penetrance of CDKN2A mutations for melanoma. J Natl Cancer Inst. 2002;94(12):894–903.

    Article  CAS  Google Scholar 

  21. Green AC, Olsen CM. Increased risk of melanoma in organ transplant recipients: Systematic review and meta-analysis of cohort studies. Acta Derm Venereol. 2015;95(8):923–7.

    Article  CAS  Google Scholar 

  22. Marsden JR, Newton-Bishop JA, Burrows L, Cook M, Corrie PG, Cox NH, et al. Revised UK guidelines for the management of cutaneous melanoma 2010. J Plast Reconstr Aesthet Surg. 2010;63(9):1401–19.

    Article  CAS  Google Scholar 

  23. NICE. Melanoma: assessment and management (NG14). In: NICE guidelines. 2015. www.nice.org.uk/guidance/ng14 . Accessed 15 March 2022.

  24. Watts CG, Dieng M, Morton RL, Mann GJ, Menzies SW, Cust AE. Clinical practice guidelines for identification, screening and follow-up of individuals at high risk of primary cutaneous melanoma: A systematic review. Br J Dermatol. 2015;172(1):33–47.

    Article  CAS  Google Scholar 

  25. Office for National Statistics. Cancer Statistics Registrations, England: 2012. In: Health and social care. 2014. https://www.ons.gov.uk/ . Accessed 21 May 2022.

  26. Puig S, Malvehy J, Badenas C, Ruiz A, Jimenez D, Cuellar F, et al. Role of the CDKN2A locus in patients with multiple primary melanomas. J Clin Oncol. 2005;23(13):3043–51.

    Article  CAS  Google Scholar 

  27. Potrony M, Badenas C, Aguilera P, Puig-Butille JA, Carrera C, Malvehy J, et al. Update in genetic susceptibility in melanoma. Ann Transl Med. 2015;3(15):210.

    PubMed  PubMed Central  Google Scholar 

  28. GenoMEL. Genetic counselling for heridetary melanoma. http://www.genomel.org . Accessed 21 May 2022.

  29. NHS England for Cancer. Testing criteria for rare and inherited disease. In: National Genomic Test Directory. 2022. https://www.england.nhs.uk/wp-content/uploads/2018/08/rare-and-inherited-disease-eligibility-criteria-v3-2.pdf . Accessed 21 May 2022.

  30. NHS England for Cancer. National and Genomic Test Directory for rare and inherited disease. In: National Genomic Test Directory. 2022. https://www.england.nhs.uk/publication/national-genomic-test-directories/ . Accessed 21 May 2022.

  31. Overbeek KA, Rodríguez-Girondo MD, Wagner A, van der Stoep N, van den Akker PC, Oosterwijk JC, et al. Genotype-phenotype correlations for pancreatic cancer risk in Dutch melanoma families with pathogenic. J Med Genet. 2021;58(4):264–9.

    Article  CAS  Google Scholar 

  32. Goldstein AM, Chan M, Harland M, Gillanders EM, Hayward NK, Avril MF, et al. High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL. Cancer Res. 2006;66(20):9818–28.

    Article  CAS  Google Scholar 

  33. Canto MI, Harinck F, Hruban RH, Offerhaus GJ, Poley JW, Kamel I, et al. International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer. Gut. 2013;62(3):339–47.

    Article  Google Scholar 

  34. Pancreatic Cancer UK. EUROPAC study. In: Clinical trials. 2007. https://clinicaltrialfinderdetails.pancreaticcancer.org.uk/europac/. Accessed 21 May 2022.

  35. Potrony M, Puig-Butillé JA, Aguilera P, Badenas C, Carrera C, Malvehy J, et al. Increased prevalence of lung, breast, and pancreatic cancers in addition to melanoma risk in families bearing the cyclin-dependent kinase inhibitor 2A mutation: Implications for genetic counseling. J Am Acad Dermatol. 2014;71(5):888–95.

    Article  CAS  Google Scholar 

  36. Puntervoll HE, Yang XR, Vetti HH, Bachmann IM, Avril MF, Benfodda M, et al. Melanoma prone families with CDK4 germline mutation: Phenotypic profile and associations with MC1R variants. J Med Genet. 2013;50(4):264–70.

    Article  CAS  Google Scholar 

  37. Goldstein AM, Chidambaram A, Halpern A, Holly EA, Guerry D IV, Sagebiel R, et al. Rarity of CDK4 germline mutations in familial melanoma. Melanoma Res. 2002;12(1):51–5.

    Article  CAS  Google Scholar 

  38. Carbone M, Ferris LK, Baumann F, Napolitano A, Lum CA, Flores EG, et al. BAP1 cancer syndrome: Malignant mesothelioma, uveal and cutaneous melanoma, and MBAITs. J Transl Med. 2012;10:179.

    Article  CAS  Google Scholar 

  39. Leachman SA, Carucci J, Kohlmann W, Banks KC, Asgari MM, Bergman W, et al. Selection criteria for genetic assessment of patients with familial melanoma. J Am Acad Dermatol. 2009;61(4):677.e1-14.

    Article  Google Scholar 

  40. Argenziano G, Soyer HP. Dermoscopy of pigmented skin lesions – a valuable tool for early diagnosis of melanoma. Lancet Oncol. 2001;2(7):443–9.

    Article  CAS  Google Scholar 

  41. Kittler H, Pehamberger H, Wolff K, Binder M. Follow-up of melanocytic skin lesions with digital epiluminescence microscopy: Patterns of modifications observed in early melanoma, atypical nevi, and common nevi. J Am Acad Dermatol. 2000;43(3):467–76.

    Article  CAS  Google Scholar 

  42. Altamura D, Avramidis M, Menzies SW. Assessment of the optimal interval for and sensitivity of short-term sequential digital dermoscopy monitoring for the diagnosis of melanoma. Arch Dermatol. 2008;144(4):502–6.

    Article  Google Scholar 

  43. Robinson JK, Nickoloff BJ. Digital epiluminescence microscopy monitoring of high-risk patients. Arch Dermatol. 2004;140(1):49–56.

    Article  Google Scholar 

  44. Ferrante di Ruffano L, Takwoingi Y, Dinnes J, Chuchu N, Bayliss SE, Davenport C, et al. Computer-assisted diagnosis techniques (dermoscopy and spectroscopy-based) for diagnosing skin cancer in adults. Cochrane Database Syst Rev. 2018;12:CD013186.

  45. Iacullo J, Barriera-Silvestrini P, Knackstedt TJ. Dermatologic follow-up and assessment of suspicious lesions. Clin Plast Surg. 2021;48(4):617–29.

    Article  Google Scholar 

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  1. St John’s Institute of Dermatology, NHS Foundation Trust, Guy’s and St Thomas, London, SE1 9RT, UK

    Karlijn Clarysse & Katie Lacy

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Clarysse, K., Lacy, K. Why, Who and How We Should Screen for Melanoma. Curr Genet Med Rep 10, 15–23 (2022). https://doi.org/10.1007/s40142-022-00204-x

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