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Melanoma, cutaneous malignant, susceptibility to, 3(CMM3)

MedGen UID:
373202
Concept ID:
C1836892
Finding
Synonyms: CDK4-Related Cutaneous Malignant Melanoma; Cutaneous malignant melanoma 3
 
Gene (location): CDK4 (12q14.1)
 
Monarch Initiative: MONDO:0012183
OMIM®: 609048

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 malignant melanoma, see 155600. [from OMIM]

Clinical features

From HPO
Malignant melanoma of skin
MedGen UID:
57486
Concept ID:
C0151779
Neoplastic Process
A 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\nMost 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\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.
Atypical nevus
MedGen UID:
60020
Concept ID:
C0205748
Neoplastic Process
A large pigmented lesion measuring 5-15 mm in diameter with irregular, notched, and ill defined border and with color that may range from tan to dark brown to pink.
Numerous nevi
MedGen UID:
341508
Concept ID:
C1849677
Finding
Atypical nevi in non-sun exposed areas
MedGen UID:
867460
Concept ID:
C4021837
Finding

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
Ribero S, Longo C, Glass D, Nathan P, Bataille V
Dermatology 2016;232(3):259-64. Epub 2016 May 13 doi: 10.1159/000445767. PMID: 27173969
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

Recent clinical studies

Etiology

Asadian F, Niktabar SM, Ghelmani Y, Kargar S, Akbarian E, Emarati SA, Sadeghizadeh-Yazdi J, Neamatzadeh H
Acta Medica (Hradec Kralove) 2020;63(3):101-112. doi: 10.14712/18059694.2020.27. PMID: 33002396
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
Ribero S, Longo C, Glass D, Nathan P, Bataille V
Dermatology 2016;232(3):259-64. Epub 2016 May 13 doi: 10.1159/000445767. PMID: 27173969

Diagnosis

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
Müller C, Wendt J, Rauscher S, Sunder-Plassmann R, Richtig E, Fae I, Fischer G, Okamoto I
JAMA Dermatol 2019 Feb 1;155(2):188-195. doi: 10.1001/jamadermatol.2018.4645. PMID: 30566178Free PMC Article
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
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
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

Law MH, Aoude LG, Duffy DL, Long GV, Johansson PA, Pritchard AL, Khosrotehrani K, Mann GJ, Montgomery GW, Iles MM, Cust AE, Palmer JM; Melanoma GWAS Consortium, Shannon KF, Spillane AJ, Stretch JR, Thompson JF, Saw RPM, Scolyer RA, Martin NG, Hayward NK, MacGregor S
Hum Mol Genet 2020 Oct 10;29(17):2976-2985. doi: 10.1093/hmg/ddaa156. PMID: 32716505Free PMC Article
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
Ribero S, Longo C, Glass D, Nathan P, Bataille V
Dermatology 2016;232(3):259-64. Epub 2016 May 13 doi: 10.1159/000445767. PMID: 27173969

Prognosis

Torricelli C, Carron J, Carvalho BF, Macedo LT, Rinck-Junior JA, Lima CSP, Lourenço GJ
Melanoma Res 2021 Oct 1;31(5):476-481. doi: 10.1097/CMR.0000000000000763. PMID: 34284461
Gu F, Chen TH, Pfeiffer RM, Fargnoli MC, Calista D, Ghiorzo P, Peris K, Puig S, Menin C, De Nicolo A, Rodolfo M, Pellegrini C, Pastorino L, Evangelou E, Zhang T, Hua X, DellaValle CT, Timothy Bishop D, MacGregor S, Iles MI, Law MH, Cust A, Brown KM, Stratigos AJ, Nagore E, Chanock S, Shi J, Consortium MM, Consortium M, Landi MT
Hum Mol Genet 2018 Dec 1;27(23):4145-4156. doi: 10.1093/hmg/ddy282. PMID: 30060076Free 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
Shi J, Zhou W, Zhu B, Hyland PL, Bennett H, Xiao Y, Zhang X, Burke LS, Song L, Hsu CH, Yan C, Chen Q, Meerzaman D, Dagnall CL, Burdette L, Hicks B, Freedman ND, Chanock SJ, Yeager M, Tucker MA, Goldstein AM, Yang XR
J Invest Dermatol 2016 Dec;136(12):2436-2443. Epub 2016 Jul 29 doi: 10.1016/j.jid.2016.07.023. PMID: 27476724Free PMC Article

Clinical prediction guides

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
Gu F, Chen TH, Pfeiffer RM, Fargnoli MC, Calista D, Ghiorzo P, Peris K, Puig S, Menin C, De Nicolo A, Rodolfo M, Pellegrini C, Pastorino L, Evangelou E, Zhang T, Hua X, DellaValle CT, Timothy Bishop D, MacGregor S, Iles MI, Law MH, Cust A, Brown KM, Stratigos AJ, Nagore E, Chanock S, Shi J, Consortium MM, Consortium M, Landi MT
Hum Mol Genet 2018 Dec 1;27(23):4145-4156. doi: 10.1093/hmg/ddy282. PMID: 30060076Free 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
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

Recent systematic reviews

Mohammadreza Niktabar S, Alireza Dastgheib S, Heiranizadeh N, Kargar S, Raee-Ezzabadi A, Jarahzadeh MH, Mohsen Miresmaeili S, Zare-Shehneh M, Neamatzadeh H
Klin Onkol 2020 Spring;33(3):184-194. doi: 10.14735/amko2020184. PMID: 32683874

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