Melanoma causes
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Yazan Daaboul, M.D.; Serge Korjian M.D.
Overview
Malignant melanoma arises from the epidermal melanocytes, which are neural crest cells involved in the synthesis of melanin (a brown pigment with photo-protective properties). Melanoma may be caused by sporadic genetic (e.g. BRAF and/or N-RAS) or may be part of familial syndromes (e.g. familial atypical multiple mole melanoma syndrome).
Causes
Malignant melanoma arises from the epidermal melanocytes, which are neural crest cells involved in the synthesis of melanin (a brown pigment with photoprotective properties). Melanoma may be caused by sporadic genetic mutations (e.g. BRAF and/or N-RAS) or may be part of familial syndromes.[1]
Sporadic Melanoma
- The majority (90%) of the cases of melanoma are due to sporadic genetic mutations.
- More than one genetic mutation (multiple hits) is usually the requirement for the development of melanoma.
- The most common mutations that result in the development of melanoma are BRAF (approximately 50% of melanomas) and N-RAS (approximately 15% of melanomas).[1][2]
Familial Melanoma
Melanoma may be caused by hereditary diseases (10%) and is associated with mutations of the P16/CDKN2A gene:
References
- ↑ 1.0 1.1 O'Brien O, Lyons T, Murphy S, Feeley L, Power D, Heffron C (November 2017). "BRAF V600 mutation detection in melanoma: a comparison of two laboratory testing methods". J. Clin. Pathol. 70 (11): 935–940. doi:10.1136/jclinpath-2017-204367. PMID 28424234. Vancouver style error: initials (help)
- ↑ Wong K, Robles-Espinoza CD, Rodriguez D, Rudat SS, Puig S, Potrony M, Wong CC, Hewinson J, Aguilera P, Puig-Butille JA, Bressac-de Paillerets B, Zattara H, van der Weyden L, Fletcher C, Brenn T, Arends MJ, Quesada V, Newton-Bishop JA, Lopez-Otin C, Bishop DT, Harms PW, Johnson TM, Durham AB, Lombard DB, Adams DJ (December 2018). "Association of the POT1 Germline Missense Variant p.I78T With Familial Melanoma". JAMA Dermatol. doi:10.1001/jamadermatol.2018.3662. PMID 30586141. Vancouver style error: initials (help)