Melanocytic Skin Tumors: Genetic Aberrations and Clinicopathological Classification
Keywords:
melanocytic nevus, melanoma, melanocytomas, genetic aberrations, classificationReferences
1. Bastian BC, de la Fouchardiere A., Elder DE, et al. Genomic landscape of melanoma. In Elder DE, Massi D, Scolyer RA, Willemze R eds. WHO Classification of Skin Tumours, 4th Edition, Lyon: IARC; 2018; pp 72-75.
2. Potrony M, Badenas C, Aguilera P, et al. Update in genetic susceptibility in melanoma. Ann Transl Med 2015; 3 (15): 210.
3. Shain AH, Yeh I, Kovalyshyn I, et al. The genetic evolution of melanoma from precursor Lesions. N Engl J Med 2015; 373 (20):1926–1936.
4. Cancer Genome Atlas N. Genomic classification of cutaneous melanoma. Cell 2015; 161 (7): 1681-1696.
5. Pollock PM, Harper UL, Hansen KS, et al. High frequency of BRAF mutations in nevi. Nat Genet 2003; 33 (1): 19-20.
6. Ichii-Nakato N, Takata M, Takayanagi S, et al. High frequency of BRAF600 mutation in acquired nevi and small congenital nevi, but low frequency of mutation in medium sized congenital nevi. J Invest Dermatol 2006; 126 (9): 2111-2118.
7. Bauer J, Curtin JA, Pinkel D, Bastian BC. Congenital melanocytic nevi frequently harbor NRAS mutations but no BRAF mutations. J Invest Dermatol 2007;127 (1):179-182.
8. Wiesner T, He J, Yelensky R, et al. Kinase fusions are frequent in Spitz tumors and Spitzoid melanomas. Nat Commun 2014; 5: 3116.
9. Yeh I, Botton T, Talevich E, et al. Activating MET kinase rearrangements in melanoma and Spitz tumours. Nat Commun 2015; 6: 7174.
10. Yeh I, Tee MK, Botton T, et al. NTRK3 in Spitz tumors. J Pathol 2016; 240 (3): 282-290.
11. Van Raamsdong CD, Bezrookove V, Green G, et al. Frequent somatic mutation of GNAQ in uveal melanoma and blue nevi. Nature 2009; 457 (7229): 599-602.
12. Lamba S, Felicioni L, Buttitta F, et al. Mutational profile of GNAQQ209 in human tumors. PLoS One 2009;4 (8):e6833.
13. Van Raamsdong CD, Griewank KG, Crosby MB, et al. Mutation in GNA11 in uveal melanoma. N Engl J Med 2010; 363 (23): 2191-2199.
14. Newman S, Fan L, Pribnow A, et al. Clinical genome sequencing uncovers potentially targetable truncations and fusions of MAP3K8 in spitzoid and other melanomas. Nat Med 2019; 25 (4): 597-602.
15. VandenBoom T, Quan VL, Zhang B, et al. Genomic Fusions in Pigmented Spindle Cell Nevus of Reed. Am J Surg Pathol 2018 42 (8):1042-1051.
16. Wiesner T, Murali R, Fried I, Cerroni L, Busam K, Kutzner H, Bastian BC. A distinct subset of atypical Spitz tumors is characterized by BRAF mutation and loss of BAP1 expression. Am J Surg Pathol 2012; 36 (6): 818-830.
17. Yeh I, Lang UE, Durieux E, et al. Combined activation of MAP kinase pathway and β-catenin signaling cause deep penetrating nevi. Nat Commun 2017; 8 (1): 644.
18. Zembowicz A, Knoepp SM, Bei T, et al. Loss of expression of protein kinase A regulatory subunit 1 in pigmented epithelioid melanocytoma but not in melanoma or other melanocytic lesions. Am J Surg Pathol 2007; 31(11):1764–1775
19. Bahrami A, Lee S, Wu G, et al. Pigment-synthesizing melanocytic neoplasm with protein kinase C alpha (PRKCA) fusion. JAMA Dermatol 2016; 152 (3): 318–322.
20. Cohen JN, Joseph NM, North JP, et al. Genomic analysis of pigmented epithelioid melanocytomas reveals recurrent alterations in PRKAR1A, and PRKCA Genes. Am J Surg Pathol 2017; 41 (10):1333-1346.
2. Potrony M, Badenas C, Aguilera P, et al. Update in genetic susceptibility in melanoma. Ann Transl Med 2015; 3 (15): 210.
3. Shain AH, Yeh I, Kovalyshyn I, et al. The genetic evolution of melanoma from precursor Lesions. N Engl J Med 2015; 373 (20):1926–1936.
4. Cancer Genome Atlas N. Genomic classification of cutaneous melanoma. Cell 2015; 161 (7): 1681-1696.
5. Pollock PM, Harper UL, Hansen KS, et al. High frequency of BRAF mutations in nevi. Nat Genet 2003; 33 (1): 19-20.
6. Ichii-Nakato N, Takata M, Takayanagi S, et al. High frequency of BRAF600 mutation in acquired nevi and small congenital nevi, but low frequency of mutation in medium sized congenital nevi. J Invest Dermatol 2006; 126 (9): 2111-2118.
7. Bauer J, Curtin JA, Pinkel D, Bastian BC. Congenital melanocytic nevi frequently harbor NRAS mutations but no BRAF mutations. J Invest Dermatol 2007;127 (1):179-182.
8. Wiesner T, He J, Yelensky R, et al. Kinase fusions are frequent in Spitz tumors and Spitzoid melanomas. Nat Commun 2014; 5: 3116.
9. Yeh I, Botton T, Talevich E, et al. Activating MET kinase rearrangements in melanoma and Spitz tumours. Nat Commun 2015; 6: 7174.
10. Yeh I, Tee MK, Botton T, et al. NTRK3 in Spitz tumors. J Pathol 2016; 240 (3): 282-290.
11. Van Raamsdong CD, Bezrookove V, Green G, et al. Frequent somatic mutation of GNAQ in uveal melanoma and blue nevi. Nature 2009; 457 (7229): 599-602.
12. Lamba S, Felicioni L, Buttitta F, et al. Mutational profile of GNAQQ209 in human tumors. PLoS One 2009;4 (8):e6833.
13. Van Raamsdong CD, Griewank KG, Crosby MB, et al. Mutation in GNA11 in uveal melanoma. N Engl J Med 2010; 363 (23): 2191-2199.
14. Newman S, Fan L, Pribnow A, et al. Clinical genome sequencing uncovers potentially targetable truncations and fusions of MAP3K8 in spitzoid and other melanomas. Nat Med 2019; 25 (4): 597-602.
15. VandenBoom T, Quan VL, Zhang B, et al. Genomic Fusions in Pigmented Spindle Cell Nevus of Reed. Am J Surg Pathol 2018 42 (8):1042-1051.
16. Wiesner T, Murali R, Fried I, Cerroni L, Busam K, Kutzner H, Bastian BC. A distinct subset of atypical Spitz tumors is characterized by BRAF mutation and loss of BAP1 expression. Am J Surg Pathol 2012; 36 (6): 818-830.
17. Yeh I, Lang UE, Durieux E, et al. Combined activation of MAP kinase pathway and β-catenin signaling cause deep penetrating nevi. Nat Commun 2017; 8 (1): 644.
18. Zembowicz A, Knoepp SM, Bei T, et al. Loss of expression of protein kinase A regulatory subunit 1 in pigmented epithelioid melanocytoma but not in melanoma or other melanocytic lesions. Am J Surg Pathol 2007; 31(11):1764–1775
19. Bahrami A, Lee S, Wu G, et al. Pigment-synthesizing melanocytic neoplasm with protein kinase C alpha (PRKCA) fusion. JAMA Dermatol 2016; 152 (3): 318–322.
20. Cohen JN, Joseph NM, North JP, et al. Genomic analysis of pigmented epithelioid melanocytomas reveals recurrent alterations in PRKAR1A, and PRKCA Genes. Am J Surg Pathol 2017; 41 (10):1333-1346.
Published
2019-12-31
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1.
Urso C. Melanocytic Skin Tumors: Genetic Aberrations and Clinicopathological Classification. Dermatol Pract Concept. Published online December 31, 2019:e2020005. doi:10.5826/dpc.1001a05
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