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Melanoma, cutaneous malignant, susceptibility to, 8(CMM8)

MedGen UID:
463554
Concept ID:
C3152204
Finding
Synonyms: Cutaneous malignant melanoma 8; MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO
 
Gene (location): MITF (3p13)
 
Monarch Initiative: MONDO:0013759
OMIM®: 614456
Orphanet: ORPHA293822

Definition

Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010). For a discussion of genetic heterogeneity of cutaneous malignant melanoma, see CMM1 (155600). [from OMIM]

Clinical features

From HPO
Malignant melanoma of skin
MedGen UID:
57486
Concept ID:
C0151779
Neoplastic Process
Most melanomas affect only the outermost layer of skin (the epidermis). If a melanoma becomes thicker and involves multiple layers of skin, it can spread to other parts of the body (metastasize).\n\nA large number of moles or other pigmented skin growths on the body, generally more than 25, is associated with an increased risk of developing melanoma. Melanoma is also a common feature of genetic syndromes affecting the skin such as xeroderma pigmentosum. Additionally, individuals who have previously had melanoma are nearly nine times more likely than the general population to develop melanoma again. It is estimated that about 90 percent of individuals with melanoma survive at least 5 years after being diagnosed.\n\nMelanoma may develop from an existing mole or other normal skin growth that becomes cancerous (malignant); however, many melanomas are new growths. Melanomas often have ragged edges and an irregular shape. They can range from a few millimeters to several centimeters across. They can also be a variety of colors: brown, black, red, pink, blue, or white.\n\nMelanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. This cancer typically occurs in areas that are only occasionally sun-exposed; tumors are most commonly found on the back in men and on the legs in women. Melanoma usually occurs on the skin (cutaneous melanoma), but in about 5 percent of cases it develops in melanocytes in other tissues, including the eyes (uveal melanoma) or mucous membranes that line the body's cavities, such as the moist lining of the mouth (mucosal melanoma). Melanoma can develop at any age, but it most frequently occurs in people in their fifties to seventies and is becoming more common in teenagers and young adults.

Professional guidelines

PubMed

Arnaut JRMB, Guimarães IDS, Dos Santos ACE, Rodrigues EM, Machado JRDS, de Melo AC
Int J Dermatol 2023 Aug;62(8):1060-1066. Epub 2023 Jun 15 doi: 10.1111/ijd.16742. PMID: 37322831
Massone C, Hofman-Wellenhof R, Chiodi S, Sola S
Genes (Basel) 2021 Aug 23;12(8) doi: 10.3390/genes12081288. PMID: 34440462Free PMC Article
Hacker E, Nagore E, Cerroni L, Woods SL, Hayward NK, Chapman B, Montgomery GW, Soyer HP, Whiteman DC
J Invest Dermatol 2013 Apr;133(4):1027-33. Epub 2012 Oct 25 doi: 10.1038/jid.2012.385. PMID: 23096702

Recent clinical studies

Etiology

Liu M, Lan Y, Zhang H, Zhang X, Wu M, Yang L, Zhou J, Tong M, Leng L, Zheng H, Li J, Mi X
Melanoma Res 2023 Dec 1;33(6):475-481. Epub 2023 Aug 25 doi: 10.1097/CMR.0000000000000917. PMID: 37650705
Landi MT, Bishop DT, MacGregor S, Machiela MJ, Stratigos AJ, Ghiorzo P, Brossard M, Calista D, Choi J, Fargnoli MC, Zhang T, Rodolfo M, Trower AJ, Menin C, Martinez J, Hadjisavvas A, Song L, Stefanaki I, Scolyer R, Yang R, Goldstein AM, Potrony M, Kypreou KP, Pastorino L, Queirolo P, Pellegrini C, Cattaneo L, Zawistowski M, Gimenez-Xavier P, Rodriguez A, Elefanti L, Manoukian S, Rivoltini L, Smith BH, Loizidou MA, Del Regno L, Massi D, Mandala M, Khosrotehrani K, Akslen LA, Amos CI, Andresen PA, Avril MF, Azizi E, Soyer HP, Bataille V, Dalmasso B, Bowdler LM, Burdon KP, Chen WV, Codd V, Craig JE, Dębniak T, Falchi M, Fang S, Friedman E, Simi S, Galan P, Garcia-Casado Z, Gillanders EM, Gordon S, Green A, Gruis NA, Hansson J, Harland M, Harris J, Helsing P, Henders A, Hočevar M, Höiom V, Hunter D, Ingvar C, Kumar R, Lang J, Lathrop GM, Lee JE, Li X, Lubiński J, Mackie RM, Malt M, Malvehy J, McAloney K, Mohamdi H, Molven A, Moses EK, Neale RE, Novaković S, Nyholt DR, Olsson H, Orr N, Fritsche LG, Puig-Butille JA, Qureshi AA, Radford-Smith GL, Randerson-Moor J, Requena C, Rowe C, Samani NJ, Sanna M, Schadendorf D, Schulze HJ, Simms LA, Smithers M, Song F, Swerdlow AJ, van der Stoep N, Kukutsch NA, Visconti A, Wallace L, Ward SV, Wheeler L, Sturm RA, Hutchinson A, Jones K, Malasky M, Vogt A, Zhou W, Pooley KA, Elder DE, Han J, Hicks B, Hayward NK, Kanetsky PA, Brummett C, Montgomery GW, Olsen CM, Hayward C, Dunning AM, Martin NG, Evangelou E, Mann GJ, Long G, Pharoah PDP, Easton DF, Barrett JH, Cust AE, Abecasis G, Duffy DL, Whiteman DC, Gogas H, De Nicolo A, Tucker MA, Newton-Bishop JA; GenoMEL Consortium; Q-MEGA and QTWIN Investigators; ATHENS Melanoma Study Group; 23andMe; SDH Study Group; IBD Investigators; Essen-Heidelberg Investigators; AMFS Investigators; MelaNostrum Consortium, Peris K, Chanock SJ, Demenais F, Brown KM, Puig S, Nagore E, Shi J, Iles MM, Law MH
Nat Genet 2020 May;52(5):494-504. Epub 2020 Apr 27 doi: 10.1038/s41588-020-0611-8. PMID: 32341527Free PMC Article
Benfodda M, Gazal S, Descamps V, Basset-Seguin N, Deschamps L, Thomas L, Lebbe C, Saiag P, Zanetti R, Sacchetto L, Chiorino G, Scatolini M, Grandchamp B, Bensussan A, Soufir N
Genes Chromosomes Cancer 2018 Jun;57(6):294-303. Epub 2018 Feb 21 doi: 10.1002/gcc.22528. PMID: 29359367
Piris A, Mihm MC Jr, Hoang MP
Hum Pathol 2015 Feb;46(2):239-45. Epub 2014 Nov 4 doi: 10.1016/j.humpath.2014.10.015. PMID: 25479927
Yaman B, Akalin T, Kandiloğlu G
Am J Dermatopathol 2015 May;37(5):389-97. doi: 10.1097/DAD.0000000000000241. PMID: 25357015

Diagnosis

Massone C, Hofman-Wellenhof R, Chiodi S, Sola S
Genes (Basel) 2021 Aug 23;12(8) doi: 10.3390/genes12081288. PMID: 34440462Free PMC Article
Carbone ML, Lacal PM, Messinese S, De Giglio L, Pozzilli C, Persechino S, Mazzanti C, Failla CM, Pagnanelli G
Int J Mol Sci 2020 Apr 22;21(8) doi: 10.3390/ijms21082950. PMID: 32331328Free PMC Article
Yeh I, Jorgenson E, Shen L, Xu M, North JP, Shain AH, Reuss D, Wu H, Robinson WA, Olshen A, von Deimling A, Kwok PY, Bastian BC, Asgari MM
J Natl Cancer Inst 2019 Oct 1;111(10):1068-1077. doi: 10.1093/jnci/djz005. PMID: 30657954Free PMC Article
Teerlink CC, Huff C, Stevens J, Yu Y, Holmen SL, Silvis MR, Trombetti K, Zhao H, Grossman D, Farnham JM, Wen J, Facelli JC, Thomas A, Babst M, Florell SR, Meyer L, Zone JJ, Leachman S, Cannon-Albright LA
J Natl Cancer Inst 2018 Dec 1;110(12):1380-1385. doi: 10.1093/jnci/djy058. PMID: 29659923Free PMC Article
Yaman B, Akalin T, Kandiloğlu G
Am J Dermatopathol 2015 May;37(5):389-97. doi: 10.1097/DAD.0000000000000241. PMID: 25357015

Therapy

Castejón-Griñán M, Cerdido S, Sánchez-Beltrán J, Lambertos A, Abrisqueta M, Herraiz C, Jiménez-Cervantes C, García-Borrón JC
Redox Biol 2024 Jun;72:103135. Epub 2024 Mar 26 doi: 10.1016/j.redox.2024.103135. PMID: 38565069Free PMC Article
Liu M, Lan Y, Zhang H, Zhang X, Wu M, Yang L, Zhou J, Tong M, Leng L, Zheng H, Li J, Mi X
Melanoma Res 2023 Dec 1;33(6):475-481. Epub 2023 Aug 25 doi: 10.1097/CMR.0000000000000917. PMID: 37650705
Babačić H, Eriksson H, Pernemalm M
Neoplasia 2021 Aug;23(8):783-791. Epub 2021 Jul 8 doi: 10.1016/j.neo.2021.06.002. PMID: 34246984Free PMC Article
Carbone ML, Lacal PM, Messinese S, De Giglio L, Pozzilli C, Persechino S, Mazzanti C, Failla CM, Pagnanelli G
Int J Mol Sci 2020 Apr 22;21(8) doi: 10.3390/ijms21082950. PMID: 32331328Free PMC Article
Wei Q, Lee JE, Gershenwald JE, Ross MI, Mansfield PF, Strom SS, Wang LE, Guo Z, Qiao Y, Amos CI, Spitz MR, Duvic M
J Natl Cancer Inst 2003 Feb 19;95(4):308-15. doi: 10.1093/jnci/95.4.308. PMID: 12591987

Prognosis

Liu M, Lan Y, Zhang H, Zhang X, Wu M, Yang L, Zhou J, Tong M, Leng L, Zheng H, Li J, Mi X
Melanoma Res 2023 Dec 1;33(6):475-481. Epub 2023 Aug 25 doi: 10.1097/CMR.0000000000000917. PMID: 37650705
Massone C, Hofman-Wellenhof R, Chiodi S, Sola S
Genes (Basel) 2021 Aug 23;12(8) doi: 10.3390/genes12081288. PMID: 34440462Free PMC Article
Rodrigues MJ, Stern MH
J Fr Ophtalmol 2015 Jun;38(6):522-5. Epub 2015 May 11 doi: 10.1016/j.jfo.2015.04.004. PMID: 25976133
Yaman B, Akalin T, Kandiloğlu G
Am J Dermatopathol 2015 May;37(5):389-97. doi: 10.1097/DAD.0000000000000241. PMID: 25357015
Howell WM, Turner SJ, Theaker JM, Bateman AC
Eur J Immunogenet 2003 Dec;30(6):409-14. doi: 10.1111/j.1365-2370.2003.00425.x. PMID: 14675394

Clinical prediction guides

Liu M, Lan Y, Zhang H, Zhang X, Wu M, Yang L, Zhou J, Tong M, Leng L, Zheng H, Li J, Mi X
Melanoma Res 2023 Dec 1;33(6):475-481. Epub 2023 Aug 25 doi: 10.1097/CMR.0000000000000917. PMID: 37650705
Massone C, Hofman-Wellenhof R, Chiodi S, Sola S
Genes (Basel) 2021 Aug 23;12(8) doi: 10.3390/genes12081288. PMID: 34440462Free PMC Article
Carbone ML, Lacal PM, Messinese S, De Giglio L, Pozzilli C, Persechino S, Mazzanti C, Failla CM, Pagnanelli G
Int J Mol Sci 2020 Apr 22;21(8) doi: 10.3390/ijms21082950. PMID: 32331328Free PMC Article
Teerlink CC, Huff C, Stevens J, Yu Y, Holmen SL, Silvis MR, Trombetti K, Zhao H, Grossman D, Farnham JM, Wen J, Facelli JC, Thomas A, Babst M, Florell SR, Meyer L, Zone JJ, Leachman S, Cannon-Albright LA
J Natl Cancer Inst 2018 Dec 1;110(12):1380-1385. doi: 10.1093/jnci/djy058. PMID: 29659923Free PMC Article
Yaman B, Akalin T, Kandiloğlu G
Am J Dermatopathol 2015 May;37(5):389-97. doi: 10.1097/DAD.0000000000000241. PMID: 25357015

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