Melanoma causes: Difference between revisions
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{{CMG}} {{AE}} {{YD}}; {{SSK}} | {{CMG}} {{AE}} {{YD}}; {{SSK}} | ||
==Overview== | ==Overview== | ||
Melanoma may be caused by | [[Malignant]] [[melanoma]] arises from the [[Epidermis (skin)|epidermal]] [[Melanocyte|melanocytes]], which are [[neural crest]] [[Cell (biology)|cells]] involved in the [[Chemical synthesis|synthesis]] of [[melanin]] (a brown [[pigment]] with photo-protective properties). [[Melanoma]] may be caused by sporadic [[Genetics|genetic]] (e.g. ''[[BRAF]]'' and/or ''[[Ras|N-RAS]]'') or may be part of [[Family|familial]] syndromes (e.g. familial atypical multiple mole melanoma syndrome). | ||
==Causes== | ==Causes== | ||
Melanoma may be caused by | 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 ''[[Ras|N-RAS]]'') or may be part of [[Family|familial]] [[Syndrome|syndromes]].<ref name="pmid28424234">{{cite journal |vauthors=O'Brien O, Lyons T, Murphy S, Feeley L, Power D, Heffron CCBB |title=BRAF V600 mutation detection in melanoma: a comparison of two laboratory testing methods |journal=J. Clin. Pathol. |volume=70 |issue=11 |pages=935–940 |date=November 2017 |pmid=28424234 |doi=10.1136/jclinpath-2017-204367 |url=}}</ref> | ||
===Sporadic Melanoma=== | ===Sporadic Melanoma=== | ||
*The majority of cases of melanoma are sporadic | *The majority (90%) of the cases of [[melanoma]] are due to sporadic [[Genetics|genetic]] [[Mutation|mutations]]. | ||
* | *More than one [[Genetics|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). | *The most common [[Mutation|mutations]] that result in the development of [[melanoma]] are ''[[BRAF]]'' (approximately 50% of [[Melanoma|melanomas]]) and ''[[Ras|N-RAS]]'' (approximately 15% of [[Melanoma|melanomas]]).<ref name="pmid28424234">{{cite journal |vauthors=O'Brien O, Lyons T, Murphy S, Feeley L, Power D, Heffron CCBB |title=BRAF V600 mutation detection in melanoma: a comparison of two laboratory testing methods |journal=J. Clin. Pathol. |volume=70 |issue=11 |pages=935–940 |date=November 2017 |pmid=28424234 |doi=10.1136/jclinpath-2017-204367 |url=}}</ref><ref name="pmid30586141">{{cite journal |vauthors=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 CDM, Brenn T, Arends MJ, Quesada V, Newton-Bishop JA, Lopez-Otin C, Bishop DT, Harms PW, Johnson TM, Durham AB, Lombard DB, Adams DJ |title=Association of the POT1 Germline Missense Variant p.I78T With Familial Melanoma |journal=JAMA Dermatol |volume= |issue= |pages= |date=December 2018 |pmid=30586141 |doi=10.1001/jamadermatol.2018.3662 |url=}}</ref><ref name="pmid29187493">{{cite journal |vauthors=Ponti G, Manfredini M, Greco S, Pellacani G, Depenni R, Tomasi A, Maccaferri M, Cascinu S |title=BRAF, NRAS and C-KIT Advanced Melanoma: Clinico-pathological Features, Targeted-Therapy Strategies and Survival |journal=Anticancer Res. |volume=37 |issue=12 |pages=7043–7048 |date=December 2017 |pmid=29187493 |doi=10.21873/anticanres.12175 |url=}}</ref><ref name="pmid30552700">{{cite journal |vauthors=Parekh V, Sobanko J, Miller CJ, Karakousis G, Xu W, Letrero R, Elenitsas R, Xu X, Elder DE, Amaravadi R, Schuchter LM, Nathanson KL, Wilson MA, Chu EY |title=NRAS Q61R and BRAF G466A mutations in atypical melanocytic lesions newly arising in advanced melanoma patients treated with vemurafenib |journal=J. Cutan. Pathol. |volume= |issue= |pages= |date=December 2018 |pmid=30552700 |doi=10.1111/cup.13401 |url=}}</ref> | ||
===Familial Melanoma=== | ===Familial Melanoma=== | ||
Melanoma may be caused by hereditary diseases (10%) and is associated with mutations of the ''CDKN2A'' gene: | [[Melanoma]] may be caused by [[Heredity|hereditary]] [[Disease|diseases]] (10%) and is associated with [[Mutation|mutations]] of the ''[[P16 (gene)|P16/CDKN2A]]'' [[gene]]: | ||
*Familial atypical multiple mole melanoma syndrome (FAMMM syndrome) | *[[Family|Familial]] atypical multiple [[Melanocytic nevus|mole]] [[melanoma]] [[syndrome]] (FAMMM syndrome)<ref name="pmid26034853">{{cite journal |vauthors=Perkins A, Duffy RL |title=Atypical moles: diagnosis and management |journal=Am Fam Physician |volume=91 |issue=11 |pages=762–7 |date=June 2015 |pmid=26034853 |doi= |url=}}</ref><ref name="pmid29541281">{{cite journal |vauthors=Cremin C, Howard S, Le L, Karsan A, Schaeffer DF, Renouf D, Schrader KA |title=CDKN2A founder mutation in pancreatic ductal adenocarcinoma patients without cutaneous features of Familial Atypical Multiple Mole Melanoma (FAMMM) syndrome |journal=Hered Cancer Clin Pract |volume=16 |issue= |pages=7 |date=2018 |pmid=29541281 |pmc=5842519 |doi=10.1186/s13053-018-0088-y |url=}}</ref> | ||
*Melanoma-astrocytoma syndrome | *[[Melanoma]]-[[astrocytoma]] [[syndrome]]<ref name="pmid28699883">{{cite journal |vauthors=Chan AK, Han SJ, Choy W, Beleford D, Aghi MK, Berger MS, Shieh JT, Bollen AW, Perry A, Phillips JJ, Butowski N, Solomon DA |title=Familial melanoma-astrocytoma syndrome: synchronous diffuse astrocytoma and pleomorphic xanthoastrocytoma in a patient with germline CDKN2A/B deletion and a significant family history |journal=Clin. Neuropathol. |volume=36 |issue=5 |pages=213–221 |date=2017 |pmid=28699883 |pmc=5628627 |doi=10.5414/NP301022 |url=}}</ref> | ||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
[[Category:Up-To-Date]] | |||
[[Category:Oncology]] | |||
[[Category:Medicine]] | |||
[[Category:Dermatology]] | |||
[[Category:Surgery]] | |||
Latest revision as of 17:31, 3 January 2019
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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][3][4]
Familial Melanoma
Melanoma may be caused by hereditary diseases (10%) and is associated with mutations of the P16/CDKN2A gene:
- Familial atypical multiple mole melanoma syndrome (FAMMM syndrome)[5][6]
- Melanoma-astrocytoma syndrome[7]
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)
- ↑ Ponti G, Manfredini M, Greco S, Pellacani G, Depenni R, Tomasi A, Maccaferri M, Cascinu S (December 2017). "BRAF, NRAS and C-KIT Advanced Melanoma: Clinico-pathological Features, Targeted-Therapy Strategies and Survival". Anticancer Res. 37 (12): 7043–7048. doi:10.21873/anticanres.12175. PMID 29187493.
- ↑ Parekh V, Sobanko J, Miller CJ, Karakousis G, Xu W, Letrero R, Elenitsas R, Xu X, Elder DE, Amaravadi R, Schuchter LM, Nathanson KL, Wilson MA, Chu EY (December 2018). "NRAS Q61R and BRAF G466A mutations in atypical melanocytic lesions newly arising in advanced melanoma patients treated with vemurafenib". J. Cutan. Pathol. doi:10.1111/cup.13401. PMID 30552700.
- ↑ Perkins A, Duffy RL (June 2015). "Atypical moles: diagnosis and management". Am Fam Physician. 91 (11): 762–7. PMID 26034853.
- ↑ Cremin C, Howard S, Le L, Karsan A, Schaeffer DF, Renouf D, Schrader KA (2018). "CDKN2A founder mutation in pancreatic ductal adenocarcinoma patients without cutaneous features of Familial Atypical Multiple Mole Melanoma (FAMMM) syndrome". Hered Cancer Clin Pract. 16: 7. doi:10.1186/s13053-018-0088-y. PMC 5842519. PMID 29541281.
- ↑ Chan AK, Han SJ, Choy W, Beleford D, Aghi MK, Berger MS, Shieh JT, Bollen AW, Perry A, Phillips JJ, Butowski N, Solomon DA (2017). "Familial melanoma-astrocytoma syndrome: synchronous diffuse astrocytoma and pleomorphic xanthoastrocytoma in a patient with germline CDKN2A/B deletion and a significant family history". Clin. Neuropathol. 36 (5): 213–221. doi:10.5414/NP301022. PMC 5628627. PMID 28699883.