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Melanoma, cutaneous malignant, susceptibility to, 2(CMM2)

MedGen UID:
331891
Concept ID:
C1835044
Finding
Synonyms: CDKN2A-Related Cutaneous Malignant Melanoma; Cutaneous malignant melanoma 2
 
Gene (location): CDKN2A (9p21.3)
 
Monarch Initiative: MONDO:0007964
OMIM®: 155601

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\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\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 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

Levin T, Mæhle L
Fam Cancer 2017 Apr;16(2):257-265. doi: 10.1007/s10689-016-9939-8. PMID: 27804060Free PMC Article
Aspinwall LG, Stump TK, Taber JM, Kohlmann W, Leaf SL, Leachman SA
J Behav Med 2015 Oct;38(5):754-65. Epub 2015 Mar 31 doi: 10.1007/s10865-015-9631-8. PMID: 25822116Free PMC Article
Gabree M, Seidel M
Cancer J 2012 Jul-Aug;18(4):372-80. doi: 10.1097/PPO.0b013e3182624664. PMID: 22846740

Recent clinical studies

Etiology

Visser M, van der Stoep N, Gruis N
Fam Cancer 2019 Apr;18(2):267-271. doi: 10.1007/s10689-018-00115-3. PMID: 30659395
Goldstein AM, Stidd KC, Yang XR, Fraser MC, Tucker MA
Cancer 2018 Sep 15;124(18):3715-3723. Epub 2018 Sep 12 doi: 10.1002/cncr.31641. PMID: 30207590Free PMC Article
Chintalacheruvu LM, Shaw T, Buddam A, Diab O, Kassim T, Mukherjee S, Lynch HT
J Gastrointestin Liver Dis 2017 Jun;26(2):157-163. doi: 10.15403/jgld.2014.1121.262.maj. PMID: 28617886
Betti M, Aspesi A, Biasi A, Casalone E, Ferrante D, Ogliara P, Gironi LC, Giorgione R, Farinelli P, Grosso F, Libener R, Rosato S, Turchetti D, Maffè A, Casadio C, Ascoli V, Dianzani C, Colombo E, Piccolini E, Pavesi M, Miccoli S, Mirabelli D, Bracco C, Righi L, Boldorini R, Papotti M, Matullo G, Magnani C, Pasini B, Dianzani I
Cancer Lett 2016 Aug 10;378(2):120-30. Epub 2016 May 12 doi: 10.1016/j.canlet.2016.05.011. PMID: 27181379
Aoude LG, Wadt KA, Pritchard AL, Hayward NK
Pigment Cell Melanoma Res 2015 Mar;28(2):148-60. Epub 2015 Jan 5 doi: 10.1111/pcmr.12333. PMID: 25431349

Diagnosis

Lebensohn A, Ghafoor A, Bloomquist L, Royer MC, Castelo-Soccio L, Karacki K, Hathaway O, Maglo T, Wagner C, Agra MG, Blakely AM, Schrump DS, Hassan R, Cowen EW
JAMA Dermatol 2024 Aug 1;160(8):838-845. doi: 10.1001/jamadermatol.2024.1804. PMID: 38759225Free PMC Article
Visser M, van der Stoep N, Gruis N
Fam Cancer 2019 Apr;18(2):267-271. doi: 10.1007/s10689-018-00115-3. PMID: 30659395
Goldstein AM, Stidd KC, Yang XR, Fraser MC, Tucker MA
Cancer 2018 Sep 15;124(18):3715-3723. Epub 2018 Sep 12 doi: 10.1002/cncr.31641. PMID: 30207590Free PMC Article
Chintalacheruvu LM, Shaw T, Buddam A, Diab O, Kassim T, Mukherjee S, Lynch HT
J Gastrointestin Liver Dis 2017 Jun;26(2):157-163. doi: 10.15403/jgld.2014.1121.262.maj. PMID: 28617886
Belbasis L, Stefanaki I, Stratigos AJ, Evangelou E
J Dermatol Sci 2016 Dec;84(3):330-339. Epub 2016 Sep 13 doi: 10.1016/j.jdermsci.2016.09.003. PMID: 27663092

Therapy

Goldstein AM, Stidd KC, Yang XR, Fraser MC, Tucker MA
Cancer 2018 Sep 15;124(18):3715-3723. Epub 2018 Sep 12 doi: 10.1002/cncr.31641. PMID: 30207590Free PMC Article
Arnold M, de Vries E, Whiteman DC, Jemal A, Bray F, Parkin DM, Soerjomataram I
Int J Cancer 2018 Sep 15;143(6):1305-1314. Epub 2018 May 7 doi: 10.1002/ijc.31527. PMID: 29659012
Belbasis L, Stefanaki I, Stratigos AJ, Evangelou E
J Dermatol Sci 2016 Dec;84(3):330-339. Epub 2016 Sep 13 doi: 10.1016/j.jdermsci.2016.09.003. PMID: 27663092
Kim SY, Kim SN, Hahn HJ, Lee YW, Choe YB, Ahn KJ
J Am Acad Dermatol 2015 Jun;72(6):1036-46.e2. Epub 2015 Mar 25 doi: 10.1016/j.jaad.2015.02.1113. PMID: 25819940
MacKie RM
Curr Opin Oncol 1999 Mar;11(2):129-31. doi: 10.1097/00001622-199903000-00009. PMID: 10188078

Prognosis

Riobello C, Casanueva Muruais R, Suárez-Fernández L, García-Marín R, Cabal VN, Blanco-Lorenzo V, Franchi A, Laco J, López F, Llorente JL, Hermsen MA
Pigment Cell Melanoma Res 2022 Jan;35(1):88-96. Epub 2021 Oct 8 doi: 10.1111/pcmr.13015. PMID: 34547192
Visser M, van der Stoep N, Gruis N
Fam Cancer 2019 Apr;18(2):267-271. doi: 10.1007/s10689-018-00115-3. PMID: 30659395
Arnold M, de Vries E, Whiteman DC, Jemal A, Bray F, Parkin DM, Soerjomataram I
Int J Cancer 2018 Sep 15;143(6):1305-1314. Epub 2018 May 7 doi: 10.1002/ijc.31527. PMID: 29659012
Chintalacheruvu LM, Shaw T, Buddam A, Diab O, Kassim T, Mukherjee S, Lynch HT
J Gastrointestin Liver Dis 2017 Jun;26(2):157-163. doi: 10.15403/jgld.2014.1121.262.maj. PMID: 28617886
Belbasis L, Stefanaki I, Stratigos AJ, Evangelou E
J Dermatol Sci 2016 Dec;84(3):330-339. Epub 2016 Sep 13 doi: 10.1016/j.jdermsci.2016.09.003. PMID: 27663092

Clinical prediction guides

Riobello C, Casanueva Muruais R, Suárez-Fernández L, García-Marín R, Cabal VN, Blanco-Lorenzo V, Franchi A, Laco J, López F, Llorente JL, Hermsen MA
Pigment Cell Melanoma Res 2022 Jan;35(1):88-96. Epub 2021 Oct 8 doi: 10.1111/pcmr.13015. PMID: 34547192
Goldstein AM, Stidd KC, Yang XR, Fraser MC, Tucker MA
Cancer 2018 Sep 15;124(18):3715-3723. Epub 2018 Sep 12 doi: 10.1002/cncr.31641. PMID: 30207590Free PMC Article
Chintalacheruvu LM, Shaw T, Buddam A, Diab O, Kassim T, Mukherjee S, Lynch HT
J Gastrointestin Liver Dis 2017 Jun;26(2):157-163. doi: 10.15403/jgld.2014.1121.262.maj. PMID: 28617886
Janik ME, Szlęzak D, Surman M, Gołas A, Lityńska A, Przybyło M
Anticancer Res 2017 Jun;37(6):3025-3033. doi: 10.21873/anticanres.11657. PMID: 28551641
Belbasis L, Stefanaki I, Stratigos AJ, Evangelou E
J Dermatol Sci 2016 Dec;84(3):330-339. Epub 2016 Sep 13 doi: 10.1016/j.jdermsci.2016.09.003. PMID: 27663092

Recent systematic reviews

Taibo A, Paradela S, Suanzes-Hernández J, Balboa-Barreiro V, Amado-Bouza J, Fonseca E
Melanoma Res 2024 Feb 1;34(1):9-15. Epub 2023 Nov 2 doi: 10.1097/CMR.0000000000000920. PMID: 37924530
Guhan SM, Artomov M, McCormick S, Njauw C-, Stratigos AJ, Shannon K, Ellisen LW, Tsao H
Sci Rep 2020 Oct 13;10(1):17051. doi: 10.1038/s41598-020-74237-z. PMID: 33051548Free PMC Article
Birke M, Schöpe J, Wagenpfeil S, Vogt T, Reichrath J
Anticancer Res 2020 Feb;40(2):583-595. doi: 10.21873/anticanres.13988. PMID: 32014899
Kim SY, Kim SN, Hahn HJ, Lee YW, Choe YB, Ahn KJ
J Am Acad Dermatol 2015 Jun;72(6):1036-46.e2. Epub 2015 Mar 25 doi: 10.1016/j.jaad.2015.02.1113. PMID: 25819940
Kasparian NA, McLoone JK, Butow PN
Arch Dermatol 2009 Dec;145(12):1415-27. doi: 10.1001/archdermatol.2009.308. PMID: 20026852

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