Assessment of clinical parameters associated with mutational status in metastatic malignant melanoma: A single-centre investigation of 141 patients

British Journal of Dermatology

Volumn 168, Issue 4, 2013, Pages 708-716

  Schlaak, M ^a,b   Bajah, A ^a,b   Podewski, T ^a,b   Kreuzberg, N ^a,b   Von Bartenwerffer, W ^a,b   Wardelmann, E ^b,c   Merkelbach Bruse, S ^b,c   Buttner R ^b,c   Mauch, C ^a,b   Kurschat, P ^a,b  

^a Department of Dermatology and Venereology   (Germany)

^b UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^c Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

B RAF KINASE; KIT PROTEIN; NRAS PROTEIN; PEPTIDES AND PROTEINS; UNCLASSIFIED DRUG;

ADULT; ARTICLE; COMPARATIVE STUDY; CONTROLLED STUDY; DISEASE COURSE; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC CORRELATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MELANOCYTIC NEVUS; METASTATIC MELANOMA; OUTCOME ASSESSMENT; PARAMETERS; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SENTINEL LYMPH NODE; SENTINEL LYMPH NODE BIOPSY; SUN EXPOSURE; SURVIVAL TIME; ULTRAVIOLET RADIATION; WILD TYPE;

DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; KAPLAN-MEIER ESTIMATE; MALE; MELANOMA; MIDDLE AGED; MUTATION; PROTO-ONCOGENE PROTEINS B-RAF; PROTO-ONCOGENE PROTEINS C-KIT; RETROSPECTIVE STUDIES; SENTINEL LYMPH NODE BIOPSY; SKIN NEOPLASMS; SUNLIGHT;

EID: 84875471905     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/bjd.12140     Document Type: Article

References (47)

1. [No authors listed]. Dacarbazine (DTIC) in malignant melanoma. Drug Ther Bull 1976; 14: 39-40.
2. Luke JJ, Hodi FS,. Vemurafenib and BRAF inhibition: a new class of treatment for metastatic melanoma. Clin Cancer Res 2012; 18: 9-14.
3. Sullivan RJ, Flaherty KT,. BRAF in melanoma: pathogenesis, diagnosis, inhibition, and resistance. J Skin Cancer 2011; 2011: 423239.
4. Curtin JA, Fridlyand J, Kageshita T, et al. Distinct sets of genetic alterations in melanoma. N Engl J Med 2005; 353: 2135-47.
5. Davies H, Bignell GR, Cox C, et al. Mutations of the BRAF gene in human cancer. Nature 2002; 417: 949-54.
6. Curtin JA, Busam K, Pinkel D, Bastian BC,. Somatic activation of KIT in distinct subtypes of melanoma. J Clin Oncol 2006; 24: 4340-6.
7. Chapman PB, Hauschild A, Robert C, et al. Improved survival with vemurafenib in melanoma with BRAF V600E mutation. N Engl J Med 2011; 364: 2507-16.
8. Ribas A, Flaherty KT,. BRAF targeted therapy changes the treatment paradigm in melanoma. Nat Rev Clin Oncol 2011; 8: 426-33.
9. Guo J, Si L, Kong Y, et al. Phase II, open-label, single-arm trial of imatinib mesylate in patients with metastatic melanoma harboring c-Kit mutation or amplification. J Clin Oncol 2011; 29: 2904-9.
10. Jakob JA, Bassett RL Jr, Ng CS, et al. NRAS mutation status is an independent prognostic factor in metastatic melanoma. Cancer 2011; 118: 4014-23.
11. Fecher LA, Cummings SD, Keefe MJ, Alani RM,. Toward a molecular classification of melanoma. J Clin Oncol 2007; 25: 1606-20.
12. Thomas NE,. BRAF somatic mutations in malignant melanoma and melanocytic naevi. Melanoma Res 2006; 16: 97-103.
13. Pollock PM, Harper UL, Hansen KS, et al. High frequency of BRAF mutations in nevi. Nat Genet 2003; 33: 19-20.
14. Fargnoli MC, Gandini S, Peris K, et al. MC1R variants increase melanoma risk in families with CDKN2A mutations: a meta-analysis. Eur J Cancer 2010; 46: 1413-20.
15. Fargnoli MC, Pike K, Pfeiffer RM, et al. MC1R variants increase risk of melanomas harboring BRAF mutations. J Invest Dermatol 2008; 128: 2485-90.
16. Landi MT, Bauer J, Pfeiffer RM, et al. MC1R germline variants confer risk for BRAF-mutant melanoma. Science 2006; 313: 521-2.
17. Scherer D, Rachakonda PS, Angelini S, et al. Association between the germline MC1R variants and somatic BRAF/NRAS mutations in melanoma tumors. J Invest Dermatol 2010; 130: 2844-8.
18. Bauer J, Buttner P, Murali R, et al. BRAF mutations in cutaneous melanoma are independently associated with age, anatomic site of the primary tumor, and the degree of solar elastosis at the primary tumor site. Pigment Cell Melanoma Res 2011; 24: 345-51.
19. Hacker E, Hayward NK, Dumenil T, et al. The association between MC1R genotype and BRAF mutation status in cutaneous melanoma: findings from an Australian population. J Invest Dermatol 2010; 130: 241-8.
20. Fitzpatrick TB,. The validity and practicality of sun-reactive skin types I through VI. Arch Dermatol 1988; 124: 869-71.
21. Espana A, Martinez-Gonzalez MA, Garcia-Granero M, et al. A prospective study of incident nonmelanoma skin cancer in heart transplant recipients. J Invest Dermatol 2000; 115: 1158-60.
22. Venesio T, Chiorino G, Balsamo A, et al. In melanocytic lesions the fraction of BRAF V600E alleles is associated with sun exposure but unrelated to ERK phosphorylation. Mod Pathol 2008; 21: 716-26.
23. Jeffrey I, Royston P, Sowter C, et al. Prognostic value of tumour thickness in cutaneous malignant melanoma. J Clin Pathol 1983; 36: 51-6.
24. Willmore-Payne C, Holden JA, Tripp S, Layfield LJ,. Human malignant melanoma: detection of BRAF- and c-kit-activating mutations by high-resolution amplicon melting analysis. Hum Pathol 2005; 36: 486-93.
25. Gonzalez-Bosquet J, Calcei J, Wei JS, et al. Detection of somatic mutations by high-resolution DNA melting (HRM) analysis in multiple cancers. PLoS ONE 2011; 6: e14522.
26. Halait H, Demartin K, Shah S, et al. Analytical performance of a real-time PCR-based assay for V600 mutations in the BRAF gene, used as the companion diagnostic test for the novel BRAF inhibitor vemurafenib in metastatic melanoma. Diagn Mol Pathol 2012; 21: 1-8.
27. Uribe P, Wistuba II, Gonzalez S,. BRAF mutation: a frequent event in benign, atypical, and malignant melanocytic lesions of the skin. Am J Dermatopathol 2003; 25: 365-70.
28. Uribe P, Andrade L, Gonzalez S,. Lack of association between BRAF mutation and MAPK ERK activation in melanocytic nevi. J Invest Dermatol 2006; 126: 161-6.
29. Edlundh-Rose E, Egyhazi S, Omholt K, et al. NRAS and BRAF mutations in melanoma tumours in relation to clinical characteristics: a study based on mutation screening by pyrosequencing. Melanoma Res 2006; 16: 471-8.
30. Thomas NE, Edmiston SN, Alexander A, et al. Number of nevi and early-life ambient UV exposure are associated with BRAF-mutant melanoma. Cancer Epidemiol Biomarkers Prev 2007; 16: 991-7.
31. Maldonado JL, Fridlyand J, Patel H, et al. Determinants of BRAF mutations in primary melanomas. J Natl Cancer Inst 2003; 95: 1878-90.
32. Thomas NE, Kanetsky PA, Edmiston SN, et al. Relationship between germline MC1R variants and BRAF-mutant melanoma in a North Carolina population-based study. J Invest Dermatol 2010; 130: 1463-5.
33. Viros A, Fridlyand J, Bauer J, et al. Improving melanoma classification by integrating genetic and morphologic features. PLoS Med 2008; 5: e120.
34. Lee JH, Choi JW, Kim YS,. Frequencies of BRAF and NRAS mutations are different in histological types and sites of origin of cutaneous melanoma: a meta-analysis. Br J Dermatol 2011; 164: 776-84.
35. Saldanha G, Potter L, Daforno P, Pringle JH,. Cutaneous melanoma subtypes show different BRAF and NRAS mutation frequencies. Clin Cancer Res 2006; 12: 4499-505.
36. Akslen LA, Angelini S, Straume O, et al. BRAF and NRAS mutations are frequent in nodular melanoma but are not associated with tumor cell proliferation or patient survival. J Invest Dermatol 2005; 125: 312-17.
37. Ellerhorst JA, Greene VR, Ekmekcioglu S, et al. Clinical correlates of NRAS and BRAF mutations in primary human melanoma. Clin Cancer Res 2011; 17: 229-35.
38. Torres-Cabala CA, Wang WL, Trent J, et al. Correlation between KIT expression and KIT mutation in melanoma: a study of 173 cases with emphasis on the acral-lentiginous/mucosal type. Mod Pathol 2009; 22: 1446-56.
39. Yun J, Lee J, Jang J, et al. KIT amplification and gene mutations in acral/mucosal melanoma in Korea. APMIS 2011; 119: 330-5.
40. Chang YM, Barrett JH, Bishop DT, et al. Sun exposure and melanoma risk at different latitudes: a pooled analysis of 5700 cases and 7216 controls. Int J Epidemiol 2009; 38: 814-30.
41. Liu W, Kelly JW, Trivett M, et al. Distinct clinical and pathological features are associated with the BRAF(T1799A(V600E)) mutation in primary melanoma. J Invest Dermatol 2007; 127: 900-5.
42. Gandini S, Sera F, Cattaruzza MS, et al. Meta-analysis of risk factors for cutaneous melanoma: I. Common and atypical naevi. Eur J Cancer 2005; 41: 28-44.
43. Dong J, Phelps RG, Qiao R, et al. BRAF oncogenic mutations correlate with progression rather than initiation of human melanoma. Cancer Res 2003; 63: 3883-5.
44. Chang DZ, Panageas KS, Osman I, et al. Clinical significance of BRAF mutations in metastatic melanoma. J Transl Med 2004; 2: 46.
45. Long GV, Menzies AM, Nagrial AM, et al. Prognostic and clinicopathologic associations of oncogenic BRAF in metastatic melanoma. J Clin Oncol 2011; 29: 1239-46.
46. Devitt B, Liu W, Salemi R, et al. Clinical outcome and pathological features associated with NRAS mutation in cutaneous melanoma. Pigment Cell Melanoma Res 2011; 24: 666-72.
47. Broekaert SM, Roy R, Okamoto I, et al. Genetic and morphologic features for melanoma classification. Pigment Cell Melanoma Res 2010; 23: 763-70.