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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
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.
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

Primiero CA, Maas EJ, Wallingford CK, Soyer HP, McInerney-Leo AM
Ital J Dermatol Venerol 2024 Feb;159(1):34-42. Epub 2024 Jan 29 doi: 10.23736/S2784-8671.23.07761-7. PMID: 38287743
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

Primiero CA, Maas EJ, Wallingford CK, Soyer HP, McInerney-Leo AM
Ital J Dermatol Venerol 2024 Feb;159(1):34-42. Epub 2024 Jan 29 doi: 10.23736/S2784-8671.23.07761-7. PMID: 38287743
Du J, Fu J, Zhang W, Zhang L, Chen H, Cheng J, He T, Fu J
Int J Oncol 2023 Mar;62(3) Epub 2023 Feb 17 doi: 10.3892/ijo.2023.5489. PMID: 36799191Free 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
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
Gibbs P, Brady BM, Robinson WA
J Cutan Med Surg 2002 May-Jun;6(3):229-35. Epub 2002 Apr 15 doi: 10.1007/s10227-001-0037-6. PMID: 11951125

Diagnosis

Najafzadeh M, Naeem P, Ghaderi N, Jafarinejad S, Karimi Z, Ghaderi M, Akhbari P, Ghaderi R, Farsi P, Wright A, Anderson D
Sci Rep 2023 Nov 1;13(1):18858. doi: 10.1038/s41598-023-44965-z. PMID: 37914759Free 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
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
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
Mössner R, Anders N, König IR, Krüger U, Schmidt D, Berking C, Ziegler A, Brockmöller J, Kaiser R, Volkenandt M, Westphal GA, Reich K
Arch Dermatol Res 2007 Jan;298(8):371-9. Epub 2006 Oct 28 doi: 10.1007/s00403-006-0708-7. PMID: 17072629

Therapy

Najafzadeh M, Naeem P, Ghaderi N, Jafarinejad S, Karimi Z, Ghaderi M, Akhbari P, Ghaderi R, Farsi P, Wright A, Anderson D
Sci Rep 2023 Nov 1;13(1):18858. doi: 10.1038/s41598-023-44965-z. PMID: 37914759Free 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
Mohania D, Chandel S, Kumar P, Verma V, Digvijay K, Tripathi D, Choudhury K, Mitten SK, Shah D
Adv Exp Med Biol 2017;996:71-87. doi: 10.1007/978-3-319-56017-5_7. PMID: 29124692
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
Gibbs P, Brady BM, Robinson WA
J Cutan Med Surg 2002 May-Jun;6(3):229-35. Epub 2002 Apr 15 doi: 10.1007/s10227-001-0037-6. PMID: 11951125

Prognosis

Casula M, Paliogiannis P, Ayala F, De Giorgi V, Stanganelli I, Mandalà M, Colombino M, Manca A, Sini MC, Caracò C, Ascierto PA, Satta RR; Melanoma Unit of Sassari (MUS), Lissia A, Cossu A, Palmieri G; Italian Melanoma Intergroup (IMI)
BMC Cancer 2019 Aug 5;19(1):772. doi: 10.1186/s12885-019-5984-7. PMID: 31382929Free PMC Article
Gartrell RD, Marks DK, Rizk EM, Bogardus M, Gérard CL, Barker LW, Fu Y, Esancy CL, Li G, Ji J, Rui S, Ernstoff MS, Taback B, Pabla S, Chang R, Lee SJ, Krolewski JJ, Morrison C, Horst BA, Saenger YM
Clin Cancer Res 2019 Apr 15;25(8):2494-2502. Epub 2019 Jan 15 doi: 10.1158/1078-0432.CCR-18-2847. PMID: 30647081Free 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
van der Rhee JI, Boonk SE, Putter H, Cannegieter SC, Flinterman LE, Hes FJ, de Snoo FA, Mooi WJ, Gruis NA, Vasen HF, Kukutsch NA, Bergman W
Cancer Epidemiol Biomarkers Prev 2013 Oct;22(10):1771-7. Epub 2013 Jul 29 doi: 10.1158/1055-9965.EPI-13-0130. PMID: 23897584
Clark WH, Goldstein AM, Tucker MA
Br Med Bull 1995 Jul;51(3):717-46. doi: 10.1093/oxfordjournals.bmb.a072988. PMID: 7552090

Clinical prediction guides

Gartrell RD, Marks DK, Rizk EM, Bogardus M, Gérard CL, Barker LW, Fu Y, Esancy CL, Li G, Ji J, Rui S, Ernstoff MS, Taback B, Pabla S, Chang R, Lee SJ, Krolewski JJ, Morrison C, Horst BA, Saenger YM
Clin Cancer Res 2019 Apr 15;25(8):2494-2502. Epub 2019 Jan 15 doi: 10.1158/1078-0432.CCR-18-2847. PMID: 30647081Free 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
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
Gibbs P, Brady BM, Robinson WA
J Cutan Med Surg 2002 May-Jun;6(3):229-35. Epub 2002 Apr 15 doi: 10.1007/s10227-001-0037-6. PMID: 11951125
Singh AD, Shields CL, Shields JA, Sato T
Arch Ophthalmol 2000 Jul;118(7):918-23. PMID: 10900104

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
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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