Palabras clave
melanoma
mutaciones
BRAF
neoplasias de la piel
mutaciones
BRAF
neoplasias de la piel
Cómo citar
Puentes, C. ., Estrada, A. ., Bohórquez, M. ., Vélez, A. ., Giraldo, C. ., & Echeverry, M. . (2020). Melanoma: análisis clínico-patológico y molecular en pacientes de la ciudad de Ibagué, Colombia. Duazary, 17(1), 5–18. https://doi.org/10.21676/2389783X.3217
Resumen
El objetivo de este estudio fue establecer las características clínico-patológicas de los pacientes con melanoma y su asociación con mutaciones del gen BRAF. Los informes de patología y las muestras de tumores incluidos en parafina de 47 mujeres y 30 hombres con melanoma, con una edad promedio de diagnóstico de 60 años, se revisaron en el Hospital Federico Lleras Acosta de Ibagué, entre 2010 y 2016. En estos tejidos tumorales se detectó la presencia de la mutacion V600E del exón 15 del gen BRAF, mediante secuenciaron por el metodo de Sanger e inspección visual del electroferograma. Ademas, se estudiaron las variables clínico-patológicas con X2, t-Student e índice Kaplan Meier. La mayoría de las lesiones estaban localizadas en las extremidades inferiores (46.6%). El subtipo más frecuente fue el melanoma lentiginoso acral (41.8%). La mayoría eran de mal pronóstico: profundidad superior a 4,1 mm (52.7%), ulceración (61.4%) y tasa mitótica media o alta (> 30%). La mutación V600E, se identificó en cinco pacientes con tumores grandes, profundos y ulcerados, cuatro de ellos tuvieron una supervivencia menor de cuatro años.Citas
1. Tsao H, Fukunaga-Kalabis M, Herlyn M. Recent Advances in Melanoma and Melanocyte Biology. J Invest Dermatol. 2017;137(3):557-60.
2. Chen X, Dong H, Liu S, Yu L, Yan D, Yao X, et al. Long noncoding RNA MHENCR promotes melanoma progression via regulating miR-425/489-mediated PI3K-Akt pathway. Am J Transl Res. 2017;9(1):90-102.
3. Hawkes JE, Truong A, Meyer LJ. Genetic predisposition to melanoma. Semin Oncol. 2016;43(5):591-7.
4. Nikolaou VA, Stratigos AJ, Flaherty KT, Tsao H. Melanoma: new insights and new therapies. J Invest Dermatol. 2012;132(3 Pt 2):854-63.
5. Chen X, Guo W, Xu XJ, Su F, Wang Y, Zhang Y, et al. Melanoma long non-coding RNA signature predicts prognostic survival and directs clinical risk-specific treatments. J Dermatol Sci. 2017;85(3):226-34.
6. Kunz M. Oncogenes in melanoma: an update. Eur J Cell Biol. 2014;93(1-2):1-10.
7. Chen AC, Halliday GM, Damian DL. Non-melanoma skin cancer: carcinogenesis and chemoprevention. Pathology. 2013;45(3):331-41.
8. Reyes E, Uribe C, de Vries E. Population-based incidence and melanoma-specific survival of cutaneous malignant melanoma in a Colombian population 2000-2009. Int J Dermatol. 2018;57(1):21-7.
9. Stratigos A, Garbe C, Lebbe C, Malvehy J, del Marmol V, Pehamberger H, et al. Diagnosis and treatment of invasive squamous cell carcinoma of the skin: European consensus-based interdisciplinary guideline. Eur J Cancer. 2015;51(14):1989-2007.
10. Garbe C, Peris K, Hauschild A, Saiag P, Middleton M, Spatz A, et al. Diagnosis an treatment of melanoma. European consensus-based interdisciplinary guideline--Update 2012. Eur J Cancer. 2012;48(15):2375-90.
11. Madu MF, Wouters MW, van Akkooi AC. Sentinel node biopsy in melanoma: Current controversies addressed. Eur J Surg Oncol. 2017;43(3):517-33.
12. Gandini S, Sera F, Cattaruzza MS, Pasquini P, Picconi O, Boyle P, et al. Meta-analysis of risk factors for cutaneous melanoma: II. Sun exposure. Eur J Cancer. 2005;41(1):45-60.
13. Rutkowski P. Introduction to the special issue of European Journal of Surgical Oncology: New roads in melanoma management. Eur J Surg Oncol. 2017;43(3):513-6.
14. Youlden DR, Baade PD, Soyer HP, Youl PH, Kimlin MG, Aitken JF, et al. Ten-Year Survival after Multiple Invasive Melanomas Is Worse than after a Single Melanoma: a Population-Based Study. J Invest Dermatol. 2016;136(11):2270-6.
15. Liu-Smith F, Farhat AM, Arce A, Ziogas A, Taylor T, Wang Z, et al. Sex differences in the association of cutaneous melanoma incidence rates and geographic ultraviolet light exposure. J Am Acad Dermatol. 2017;76(3):499-505 e3.
16. Pozzobon F, Fierro E, Acosta Á, Carreñoc A. Características del melanoma cutáneo primario en el Instituto Nacional de Cancerología 2006-2010. Revista Colombiana de Cancerología. 2013;17(3):111-8.
17. Messeguer F, Agusti-Mejias A, Traves V, Alegre V, Oliver V, Nagore E. Risk factors for the development of locoregional cutaneous metastases as the sole form of recurrence in patients with melanoma. Actas Dermosifiliogr. 2013;104(1):53-60.
18. Liu F, Bessonova L, Taylor TH, Ziogas A, Meyskens FL, Jr., Anton-Culver H. A unique gender difference in early onset melanoma implies that in addition to ultraviolet light exposure other causative factors are important. Pigment Cell Melanoma Res. 2013;26(1):128-35.
19. Kypreou KP, Stefanaki I, Antonopoulou K, Karagianni F, Ntritsos G, Zaras A, et al.
Prediction of Melanoma Risk in a Southern European Population Based on a Weighted
Genetic Risk Score. J Invest Dermatol. 2016;136(3):690-5.
20. Pakneshan S, Salajegheh A, Smith RA, Lam AK. Clinicopathological relevance of BRAF mutations in human cancer. Pathology. 2013;45(4):346-56.
21. Lee PJ, Dennis K, Madan R, Fan F. BRAF V600 Mutational Status in Melanoma Correlates with Cytologic Features in Fine-Needle Aspirate Specimens. Acta Cytol. 2018:1-7.
22. Opel KL, Chung D, McCord BR. A study of PCR inhibition mechanisms using real time
PCR. Journal of forensic sciences. 2010;55(1):25-33.
23. Johnson BM, Kemp BM. Rescue PCR: Reagent-rich PCR recipe improves amplification of degraded DNA extracts. Journal of Archaeological Science: Reports. 2017;11:683-94.
24. de Vries E, Amador JR, Rincon CJ, Uribe C, Parkin DM. Cutaneous melanoma attributable to solar radiation in Cali, Colombia. International journal of cancer. 2017;140(9):2070-4.
25. Evrenos MK, Temiz P, Cam FS, Yaman M, Yoleri L, Ermertcan AT. Clinicopathological characteristics and mutation profile of BRAF and NRAS mutation in cutaneous melanomas in the Western Turkish population. Turk J Med Sci. 2018;48(5):973-9.
26. Guy GP, Jr., Thomas CC, Thompson T, Watson M, Massetti GM, Richardson LC, et al.
Vital signs: melanoma incidence and mortality trends and projections - United States, 1982-
2030. MMWR Morb Mortal Wkly Rep. 2015;64(21):591-6.
27. Allen DC. Malignant melanoma. Histopathology Reporting: Springer; 2013. p. 207-16.
28. Sheen YS, Liao YH, Lin MH, Chen JS, Liau JY, Liang CW, et al. Clinicopathological features and prognosis of patients with de novo versus nevus-associated melanoma in Taiwan. PLoS One. 2017;12(5):e0177126.
29. Mahendraraj K, Sidhu K, Lau CS, McRoy GJ, Chamberlain RS, Smith FO. Malignant Melanoma in African-Americans: A Population-Based Clinical Outcomes Study Involving 1106 African-American Patients from the Surveillance, Epidemiology, and End Result (SEER) Database (1988-2011). Medicine (Baltimore). 2017;96(15):e6258.
30. El-Osta H, Falchook G, Tsimberidou A, Hong D, Naing A, Kim K, et al. BRAF mutations in advanced cancers: clinical characteristics and outcomes. PloS one. 2011;6(10):e25806.
31. Thomas NE, Edmiston SN, Alexander A, Groben PA, Parrish E, Kricker A, et al.
Association between NRAS and BRAF mutational status and melanoma-specific survival among patients with higher-risk primary melanoma. JAMA oncology. 2015;1(3):359-68.
32. Leichsenring J, Stogbauer F, Volckmar AL, Buchhalter I, Oliveira C, Kirchner M, et al.
Genetic profiling of melanoma in routine diagnostics: assay performance and molecular characteristics in a consecutive series of 274 cases. Pathology. 2018.
33. Jakob JA, Bassett RL, Jr., Ng CS, Curry JL, Joseph RW, Alvarado GC, et al. NRASmutation status is an independent prognostic factor in metastatic melanoma. Cancer. 2012;118(16):4014-23.
34. Long GV, Menzies AM, Nagrial AM, Haydu LE, Hamilton AL, Mann GJ, et al. Prognostic and clinicopathologic associations of oncogenic BRAF in metastatic melanoma. J Clin Oncol. 2011;29(10):1239-46.
35. Cancer Genome Atlas N. Genomic Classification of Cutaneous Melanoma. Cell. 2015;161(7):1681-96.
36. De Guglielmo Z, Ávila M, Fernandes A, Veitía D, Correnti M. Extracción de ADN de muestras incluidas en parafina sin el uso de xilol para la detección y tipificación de VPH. 2013.
37. García MP, Benavente MF, Melo AA, Roa EI, Roa SJC. Efecto de la fijación en la calidad del ADN: estudio controlado con cinco fijadores. Revista española de patología. 2006;39(3):175-9.
38. Del Valle JAB, Moreno ÁJR, Alegría CJG, Gómez-Camargo DE. Comparación de métodos de extracción de ADN en tejidos parafinados y utilidad para amplificación por PCR. Revista Colombiana de Biotecnología. 2013;15(1):172.
39. Duarte CA, Flórez JP, López HG, Meneses M, Vries E. Survival of acral lentiginous melanoma in the National Cancer Institute of Colombia. Journal of the European Academy of Dermatology and Venereology. 2017;31(3):438-42.
40. Brandao FV, Pereira AF, Gontijo B, Bittencourt FV. Epidemiological aspects of melanoma at a university hospital dermatology center over a period of 20 years. An Bras Dermatol. 2013;88(3):344-53.
41. del Carpio RZ. Situación del melanoma maligno cutáneo en el hospital militar central
Lima 1985-2007. Dermatología Peruana. 2008;18(3):267-83.
42. Chi Z, Li S, Sheng X, Si L, Cui C, Han M, et al. Clinical presentation, histology, and prognoses of malignant melanoma in ethnic Chinese: a study of 522 consecutive cases. BMC cancer. 2011;11(1):85.
43. Bradford PT, Goldstein AM, McMaster ML, Tucker MA. Acral lentiginous melanoma: incidence and survival patterns in the United States, 1986-2005. Archives of dermatology. 2009;145(4):427-34.
44. Phan A, Touzet S, Dalle S, Ronger‐Savlé S, Balme B, Thomas L. Acral lentiginous melanoma: a clinicoprognostic study of 126 cases. British Journal of Dermatology. 2006;155(3):561-9.
45. Kuchelmeister C, Schaumburg‐Lever G, Garbe C. Acral cutaneous melanoma in caucasians: clinical features, histopathology and prognosis in 112 patients. British Journal of Dermatology. 2000;143(2):275-80.
46. Shen W, Sakamoto N, Yang L. Melanoma-specific mortality and competing mortality in patients with non-metastatic malignant melanoma: a population-based analysis. BMC Cancer. 2016;16:413.
47. Watson M, Geller AC, Tucker MA, Guy GP, Weinstock MA. Melanoma burden and recent trends among non-Hispanic whites aged 15-49years, United States. Prev Med. 2016;91:294-8.
2. Chen X, Dong H, Liu S, Yu L, Yan D, Yao X, et al. Long noncoding RNA MHENCR promotes melanoma progression via regulating miR-425/489-mediated PI3K-Akt pathway. Am J Transl Res. 2017;9(1):90-102.
3. Hawkes JE, Truong A, Meyer LJ. Genetic predisposition to melanoma. Semin Oncol. 2016;43(5):591-7.
4. Nikolaou VA, Stratigos AJ, Flaherty KT, Tsao H. Melanoma: new insights and new therapies. J Invest Dermatol. 2012;132(3 Pt 2):854-63.
5. Chen X, Guo W, Xu XJ, Su F, Wang Y, Zhang Y, et al. Melanoma long non-coding RNA signature predicts prognostic survival and directs clinical risk-specific treatments. J Dermatol Sci. 2017;85(3):226-34.
6. Kunz M. Oncogenes in melanoma: an update. Eur J Cell Biol. 2014;93(1-2):1-10.
7. Chen AC, Halliday GM, Damian DL. Non-melanoma skin cancer: carcinogenesis and chemoprevention. Pathology. 2013;45(3):331-41.
8. Reyes E, Uribe C, de Vries E. Population-based incidence and melanoma-specific survival of cutaneous malignant melanoma in a Colombian population 2000-2009. Int J Dermatol. 2018;57(1):21-7.
9. Stratigos A, Garbe C, Lebbe C, Malvehy J, del Marmol V, Pehamberger H, et al. Diagnosis and treatment of invasive squamous cell carcinoma of the skin: European consensus-based interdisciplinary guideline. Eur J Cancer. 2015;51(14):1989-2007.
10. Garbe C, Peris K, Hauschild A, Saiag P, Middleton M, Spatz A, et al. Diagnosis an treatment of melanoma. European consensus-based interdisciplinary guideline--Update 2012. Eur J Cancer. 2012;48(15):2375-90.
11. Madu MF, Wouters MW, van Akkooi AC. Sentinel node biopsy in melanoma: Current controversies addressed. Eur J Surg Oncol. 2017;43(3):517-33.
12. Gandini S, Sera F, Cattaruzza MS, Pasquini P, Picconi O, Boyle P, et al. Meta-analysis of risk factors for cutaneous melanoma: II. Sun exposure. Eur J Cancer. 2005;41(1):45-60.
13. Rutkowski P. Introduction to the special issue of European Journal of Surgical Oncology: New roads in melanoma management. Eur J Surg Oncol. 2017;43(3):513-6.
14. Youlden DR, Baade PD, Soyer HP, Youl PH, Kimlin MG, Aitken JF, et al. Ten-Year Survival after Multiple Invasive Melanomas Is Worse than after a Single Melanoma: a Population-Based Study. J Invest Dermatol. 2016;136(11):2270-6.
15. Liu-Smith F, Farhat AM, Arce A, Ziogas A, Taylor T, Wang Z, et al. Sex differences in the association of cutaneous melanoma incidence rates and geographic ultraviolet light exposure. J Am Acad Dermatol. 2017;76(3):499-505 e3.
16. Pozzobon F, Fierro E, Acosta Á, Carreñoc A. Características del melanoma cutáneo primario en el Instituto Nacional de Cancerología 2006-2010. Revista Colombiana de Cancerología. 2013;17(3):111-8.
17. Messeguer F, Agusti-Mejias A, Traves V, Alegre V, Oliver V, Nagore E. Risk factors for the development of locoregional cutaneous metastases as the sole form of recurrence in patients with melanoma. Actas Dermosifiliogr. 2013;104(1):53-60.
18. Liu F, Bessonova L, Taylor TH, Ziogas A, Meyskens FL, Jr., Anton-Culver H. A unique gender difference in early onset melanoma implies that in addition to ultraviolet light exposure other causative factors are important. Pigment Cell Melanoma Res. 2013;26(1):128-35.
19. Kypreou KP, Stefanaki I, Antonopoulou K, Karagianni F, Ntritsos G, Zaras A, et al.
Prediction of Melanoma Risk in a Southern European Population Based on a Weighted
Genetic Risk Score. J Invest Dermatol. 2016;136(3):690-5.
20. Pakneshan S, Salajegheh A, Smith RA, Lam AK. Clinicopathological relevance of BRAF mutations in human cancer. Pathology. 2013;45(4):346-56.
21. Lee PJ, Dennis K, Madan R, Fan F. BRAF V600 Mutational Status in Melanoma Correlates with Cytologic Features in Fine-Needle Aspirate Specimens. Acta Cytol. 2018:1-7.
22. Opel KL, Chung D, McCord BR. A study of PCR inhibition mechanisms using real time
PCR. Journal of forensic sciences. 2010;55(1):25-33.
23. Johnson BM, Kemp BM. Rescue PCR: Reagent-rich PCR recipe improves amplification of degraded DNA extracts. Journal of Archaeological Science: Reports. 2017;11:683-94.
24. de Vries E, Amador JR, Rincon CJ, Uribe C, Parkin DM. Cutaneous melanoma attributable to solar radiation in Cali, Colombia. International journal of cancer. 2017;140(9):2070-4.
25. Evrenos MK, Temiz P, Cam FS, Yaman M, Yoleri L, Ermertcan AT. Clinicopathological characteristics and mutation profile of BRAF and NRAS mutation in cutaneous melanomas in the Western Turkish population. Turk J Med Sci. 2018;48(5):973-9.
26. Guy GP, Jr., Thomas CC, Thompson T, Watson M, Massetti GM, Richardson LC, et al.
Vital signs: melanoma incidence and mortality trends and projections - United States, 1982-
2030. MMWR Morb Mortal Wkly Rep. 2015;64(21):591-6.
27. Allen DC. Malignant melanoma. Histopathology Reporting: Springer; 2013. p. 207-16.
28. Sheen YS, Liao YH, Lin MH, Chen JS, Liau JY, Liang CW, et al. Clinicopathological features and prognosis of patients with de novo versus nevus-associated melanoma in Taiwan. PLoS One. 2017;12(5):e0177126.
29. Mahendraraj K, Sidhu K, Lau CS, McRoy GJ, Chamberlain RS, Smith FO. Malignant Melanoma in African-Americans: A Population-Based Clinical Outcomes Study Involving 1106 African-American Patients from the Surveillance, Epidemiology, and End Result (SEER) Database (1988-2011). Medicine (Baltimore). 2017;96(15):e6258.
30. El-Osta H, Falchook G, Tsimberidou A, Hong D, Naing A, Kim K, et al. BRAF mutations in advanced cancers: clinical characteristics and outcomes. PloS one. 2011;6(10):e25806.
31. Thomas NE, Edmiston SN, Alexander A, Groben PA, Parrish E, Kricker A, et al.
Association between NRAS and BRAF mutational status and melanoma-specific survival among patients with higher-risk primary melanoma. JAMA oncology. 2015;1(3):359-68.
32. Leichsenring J, Stogbauer F, Volckmar AL, Buchhalter I, Oliveira C, Kirchner M, et al.
Genetic profiling of melanoma in routine diagnostics: assay performance and molecular characteristics in a consecutive series of 274 cases. Pathology. 2018.
33. Jakob JA, Bassett RL, Jr., Ng CS, Curry JL, Joseph RW, Alvarado GC, et al. NRASmutation status is an independent prognostic factor in metastatic melanoma. Cancer. 2012;118(16):4014-23.
34. Long GV, Menzies AM, Nagrial AM, Haydu LE, Hamilton AL, Mann GJ, et al. Prognostic and clinicopathologic associations of oncogenic BRAF in metastatic melanoma. J Clin Oncol. 2011;29(10):1239-46.
35. Cancer Genome Atlas N. Genomic Classification of Cutaneous Melanoma. Cell. 2015;161(7):1681-96.
36. De Guglielmo Z, Ávila M, Fernandes A, Veitía D, Correnti M. Extracción de ADN de muestras incluidas en parafina sin el uso de xilol para la detección y tipificación de VPH. 2013.
37. García MP, Benavente MF, Melo AA, Roa EI, Roa SJC. Efecto de la fijación en la calidad del ADN: estudio controlado con cinco fijadores. Revista española de patología. 2006;39(3):175-9.
38. Del Valle JAB, Moreno ÁJR, Alegría CJG, Gómez-Camargo DE. Comparación de métodos de extracción de ADN en tejidos parafinados y utilidad para amplificación por PCR. Revista Colombiana de Biotecnología. 2013;15(1):172.
39. Duarte CA, Flórez JP, López HG, Meneses M, Vries E. Survival of acral lentiginous melanoma in the National Cancer Institute of Colombia. Journal of the European Academy of Dermatology and Venereology. 2017;31(3):438-42.
40. Brandao FV, Pereira AF, Gontijo B, Bittencourt FV. Epidemiological aspects of melanoma at a university hospital dermatology center over a period of 20 years. An Bras Dermatol. 2013;88(3):344-53.
41. del Carpio RZ. Situación del melanoma maligno cutáneo en el hospital militar central
Lima 1985-2007. Dermatología Peruana. 2008;18(3):267-83.
42. Chi Z, Li S, Sheng X, Si L, Cui C, Han M, et al. Clinical presentation, histology, and prognoses of malignant melanoma in ethnic Chinese: a study of 522 consecutive cases. BMC cancer. 2011;11(1):85.
43. Bradford PT, Goldstein AM, McMaster ML, Tucker MA. Acral lentiginous melanoma: incidence and survival patterns in the United States, 1986-2005. Archives of dermatology. 2009;145(4):427-34.
44. Phan A, Touzet S, Dalle S, Ronger‐Savlé S, Balme B, Thomas L. Acral lentiginous melanoma: a clinicoprognostic study of 126 cases. British Journal of Dermatology. 2006;155(3):561-9.
45. Kuchelmeister C, Schaumburg‐Lever G, Garbe C. Acral cutaneous melanoma in caucasians: clinical features, histopathology and prognosis in 112 patients. British Journal of Dermatology. 2000;143(2):275-80.
46. Shen W, Sakamoto N, Yang L. Melanoma-specific mortality and competing mortality in patients with non-metastatic malignant melanoma: a population-based analysis. BMC Cancer. 2016;16:413.
47. Watson M, Geller AC, Tucker MA, Guy GP, Weinstock MA. Melanoma burden and recent trends among non-Hispanic whites aged 15-49years, United States. Prev Med. 2016;91:294-8.
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