Vol 71, No 3 (2021)
Review paper
Published online: 2021-06-09

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Personalised medical management of patients with melanoma (part 1)

Justyna Gil1, Izabela Łaczmańska12, Maria M. Sąsiadek1, Marcin Ziętek34
Nowotwory. Journal of Oncology 2021;71(3):169-175.

Abstract

In recent years, a dynamic increase has been observed in occurrence of melanomas, especially in young and middle-aged patients. This is the reason why curing these patients has become a priority also in the economic context. Melanomas belong to a group of neoplasms of very high genetic heterogeneity. The most common genetic alterations concern two signalling pathways: mitogen-activated pathway (MAPK) and phosphoinositide 3-kinase (PI3K) pathway. Identification of the characteristic molecular changes in the neoplastic tissue allows optimisation and individualisation of the therapy. Thus, it contributes to an increase in successful cancer treatment, reduction of treatment side effects and to improvement of the patients’ quality of life. Currently, the standard management of skin melanoma patients involves – along with surgical treatment and classical chemo/radiotherapy which is now less frequently used – also introduction of targeted therapy focused on molecular changes within the tumour tissue as well as immunotherapy which relies on activating the immune system.

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References

  1. Sąsiadek M, Łaczmańska I, Maciejczyk A, et al. Fundamentals of personalised medicine in genetic testing-based oncology. Nowotwory. Journal of Oncology. 2020; 70(4): 144–149.
  2. Shain AH, Bastian BC. From melanocytes to melanomas. Nat Rev Cancer. 2016; 16(6): 345–358.
  3. http://onkologia.org.pl/wp-content/uploads/Nowotwory_2017.pdf (28.01.2021).
  4. Michalska-Jakubus M. Malignant melanoma – epidemiology, etiopathogenesis and prognosis. Med Rodz. 2006(May 15).
  5. Elwood J, Jopson J. Melanoma and sun exposure: An overview of published studies. International Journal of Cancer. 1997; 73(2): 198–203, doi: 10.1002/(sici)1097-0215(19971009)73:2<198::aid-ijc6>3.0.co;2-r.
  6. Rastrelli M, Tropea S, Rossi CR, et al. Melanoma: Epidemiology, risk factors, pathogenesis, diagnosis and classification. In Vivo. International Institute of Anticancer Research. 2014; 28. https://moh-it.pure.elsevier.com/en/publications/melanoma-epidemiology-risk-factors-pathogenesis-diagnosis-and-cla (1.03.2021).
  7. Rutkowski P, Wysocki PJ, Nasierowska-Guttmejer A, et al. Cutaneous melanomas. Oncol Clin Pract. 2020; 16(4): 163–182.
  8. Garbe C, Amaral T, Peris K, et al. European consensus-based interdisciplinary guideline for melanoma. Part 1: Diagnostics – Update 2019. European Journal of Cancer. 2020; 126: 141–158.
  9. Soura E, Eliades P, Shannon K, et al. Hereditary melanoma: Update on syndromes and management. J Am Acad Dermatol. 2016; 74(3): 395–407.
  10. Gapska P, Scott RJ, Serrano-Fernandez P, et al. CDKN2A common variants and their association with melanoma risk: a population-based study. Cancer Res. 2005; 65(3): 835–839.
  11. Debniak T, Górski B, Huzarski T, et al. A common variant of CDKN2A (p16) predisposes to breast cancer. J Med Genet. 2005; 42(10): 763–765.
  12. Debniak T, Scott RJ, Huzarski T, et al. CDKN2A common variant and multi-organ cancer risk--a population-based study. Int J Cancer. 2006; 118(12): 3180–3182.
  13. Takebe H, Nishigori C, Tatsumi K. Melanoma and Other Skin Cancers in Xeroderma Pigmentosum Patients and Mutation in Their Cells. Journal of Investigative Dermatology. 1989; 92(5): S236–S238.
  14. Góralska A, Błaszczyk J. Znamię atypowe, znamię dysplastyczne, zespół znamion atypowych-kontrowersje nomenklaturowe, trudności diagnostyczne i znaczenie prognostyczne Atypical naevus, dysplastic naevus, dysplastic naevus syndrome-nomenclature controversy, diagnostic difficulties and prognostic perspectives. Dermatology Review. 2013; 100.
  15. Lynch HT, Shaw TG. Familial atypical multiple mole melanoma (FAMMM) syndrome: history, genetics, and heterogeneity. Fam Cancer. 2016; 15(3): 487–491.
  16. Nieuwenburg SA, Adan F, Ruijs MWG, et al. Cumulative risk of skin cancer in patients with Li-Fraumeni syndrome. Fam Cancer. 2020; 19(4): 347–351.
  17. Swetter SM, Tsao H, Bichakjian CK, et al. Guidelines of care for the management of primary cutaneous melanoma. J Am Acad Dermatol. 2019; 80(1): 208–250.
  18. Leachman SA, Lucero OM, Sampson JE, et al. Identification, genetic testing, and management of hereditary melanoma. Cancer Metastasis Rev. 2017; 36(1): 77–90.
  19. Casula M, Paliogiannis P, Ayala F, et al. Melanoma Unit of Sassari (MUS), Italian Melanoma Intergroup (IMI). Germline and somatic mutations in patients with multiple primary melanomas: a next generation sequencing study. BMC Cancer. 2019; 19(1): 772.
  20. Helgadottir H, Rocha Trocoli Drakensjö I, Girnita A. Personalized Medicine in Malignant Melanoma: Towards Patient Tailored Treatment. Front Oncol. 2018; 8: 202.
  21. Ascierto PA, Kirkwood JM, Grob JJ, et al. The role of BRAF V600 mutation in melanoma. J Transl Med. 2012; 10: 85.
  22. Cheng L, Lopez-Beltran A, Massari F, et al. Molecular testing for BRAF mutations to inform melanoma treatment decisions: a move toward precision medicine. Mod Pathol. 2018; 31(1): 24–38.
  23. Mikula H, Stapleton S, Kohler RH, et al. Design and Development of Fluorescent Vemurafenib Analogs for Imaging. Theranostics. 2017; 7(5): 1257–1265.
  24. Palmieri G, Colombino M, Casula M, et al. Italian Melanoma Intergroup (IMI). Molecular Pathways in Melanomagenesis: What We Learned from Next-Generation Sequencing Approaches. Curr Oncol Rep. 2018; 20(11): 86.
  25. Gutiérrez-Castañeda LD, Nova JA, Tovar-Parra JD. Frequency of mutations in BRAF, NRAS, and KIT in different populations and histological subtypes of melanoma: a systemic review. Melanoma Res. 2020; 30(1): 62–70.
  26. Hélias-Rodzewicz Z, Funck-Brentano E, Terrones N, et al. Variation of mutant allele frequency in NRAS Q61 mutated melanomas. BMC Dermatol. 2017; 17(1): 9.
  27. Fedorenko IV, Gibney GT, Smalley KSM. NRAS mutant melanoma: biological behavior and future strategies for therapeutic management. Oncogene. 2013; 32(25): 3009–3018.
  28. Muñoz-Couselo E, Adelantado EZ, Vélez CO, et al. NRAS-mutant melanoma: current challenges and future prospect. OncoTargets and Therapy. 2017; Volume 10: 3941–3947.
  29. Jakob JA, Bassett RL, Ng CS, et al. NRAS mutation status is an independent prognostic factor in metastatic melanoma. Cancer. 2012; 118(16): 4014–4023.
  30. Akbani R, Akdemir KC, Aksoy BA, et al. Genomic Classification of Cutaneous Melanoma. Cell. 2015; 161(7): 1681–1696.
  31. Aguissa-Touré AH, Li G. Genetic alterations of PTEN in human melanoma. Cell Mol Life Sci. 2012; 69(9): 1475–1491.
  32. Ma X, Wu Y, Zhang T, et al. The clinical significance of mutations in metastatic oral mucosal melanoma in China. Oncotarget. 2017; 8(47): 82661–82673.
  33. Pham DD, Guhan S, Tsao H. KIT and Melanoma: Biological Insights and Clinical Implications. Yonsei Med J. 2020; 61(7): 562–571.
  34. Pracht M, Mogha A, Lespagnol A, et al. Prognostic and predictive values of oncogenic BRAF, NRAS, c-KIT and MITF in cutaneous and mucous melanoma. J Eur Acad Dermatol Venereol. 2015; 29(8): 1530–1538.
  35. Sheng X, Kong Y, Li Y, et al. GNAQ and GNA11 mutations occur in 9.5% of mucosal melanoma and are associated with poor prognosis. Eur J Cancer. 2016; 65: 156–163.
  36. Livingstone E, Zaremba A, Horn S, et al. GNAQ and GNA11 mutant nonuveal melanoma: a subtype distinct from both cutaneous and uveal melanoma. Br J Dermatol. 2020; 183(5): 928–939.
  37. Michielin O, van Akkooi A, Lorigan P, et al. ESMO consensus conference recommendations on the management of locoregional melanoma: under the auspices of the ESMO Guidelines Committee. Ann Oncol. 2020; 31(11): 1449–1461.
  38. Coit DG, Thompson JA, Albertini MR, et al. Cutaneous melanoma, version 2. JNCCN. 2019; 17: 367–402.
  39. Vanni I, Tanda ET, Spagnolo F, et al. The Current State of Molecular Testing in the BRAF-Mutated Melanoma Landscape. Front Mol Biosci. 2020; 7: 113.
  40. Marczynski GT, Laus AC, Dos Reis MB, et al. Circulating tumor DNA (ctDNA) detection is associated with shorter progression-free survival in advanced melanoma patients. Sci Rep. 2020; 10(1): 18682.



Nowotwory. Journal of Oncology