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Melanoma, cutaneous malignant, susceptibility to, 9(CMM9)

MedGen UID:
767488
Concept ID:
C3554574
Finding
Synonym: Cutaneous malignant melanoma 9
 
Gene (location): TERT (5p15.33)
 
Monarch Initiative: MONDO:0014056
OMIM®: 615134

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
Melanoma
MedGen UID:
9944
Concept ID:
C0025202
Neoplastic Process
Melanoma 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.\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\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\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.

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
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
Dwyer T, Stankovich JM, Blizzard L, FitzGerald LM, Dickinson JL, Reilly A, Williamson J, Ashbolt R, Berwick M, Sale MM
Am J Epidemiol 2004 May 1;159(9):826-33. doi: 10.1093/aje/kwh120. PMID: 15105175

Recent clinical studies

Etiology

Bruno W, Dalmasso B, Barile M, Andreotti V, Elefanti L, Colombino M, Vanni I, Allavena E, Barbero F, Passoni E, Merelli B, Pellegrini S, Morgese F, Danesi R, Calò V, Bazan V, D'Elia AV, Molica C, Gensini F, Sala E, Uliana V, Soma PF, Genuardi M, Ballestrero A, Spagnolo F, Tanda E, Queirolo P, Mandalà M, Stanganelli I, Palmieri G, Menin C; Italian Melanoma Intergroup (IMI), Pastorino L, Ghiorzo P
ESMO Open 2022 Aug;7(4):100525. Epub 2022 Jun 28 doi: 10.1016/j.esmoop.2022.100525. PMID: 35777164Free PMC Article
Yepes S, Tucker MA, Koka H, Xiao Y, Zhang T, Jones K, Vogt A, Burdette L, Luo W, Zhu B, Hutchinson A, Yeager M, Hicks B, Brown KM, Freedman ND, Chanock SJ, Goldstein AM, Yang XR
J Invest Dermatol 2022 Sep;142(9):2464-2475.e5. Epub 2022 Feb 16 doi: 10.1016/j.jid.2022.01.029. PMID: 35181301Free 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
Nasser N
An Bras Dermatol 2010 Nov-Dec;85(6):843-8. doi: 10.1590/s0365-05962010000600010. PMID: 21308308
Piepkorn MW
J Am Acad Dermatol 1994 Dec;31(6):1022-39. doi: 10.1016/s0190-9622(94)70274-8. PMID: 7962751

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
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
Cloos J, Willems EM, van Warmerdam JM, Braakhuis BJ, Snow GB, Meijer S
Melanoma Res 1999 Jun;9(3):292-6. doi: 10.1097/00008390-199906000-00011. PMID: 10465585
Holman CD, Armstrong BK, Heenan PJ
J Natl Cancer Inst 1986 Mar;76(3):403-14. PMID: 3456458

Therapy

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
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
Nasser N
An Bras Dermatol 2010 Nov-Dec;85(6):843-8. doi: 10.1590/s0365-05962010000600010. PMID: 21308308
Baccarelli A, Calista D, Minghetti P, Marinelli B, Albetti B, Tseng T, Hedayati M, Grossman L, Landi G, Struewing JP, Landi MT
Br J Cancer 2004 Jan 26;90(2):497-502. doi: 10.1038/sj.bjc.6601385. PMID: 14735199Free PMC Article
Holman CD, Armstrong BK, Heenan PJ
J Natl Cancer Inst 1986 Mar;76(3):403-14. PMID: 3456458

Prognosis

Bruno W, Dalmasso B, Barile M, Andreotti V, Elefanti L, Colombino M, Vanni I, Allavena E, Barbero F, Passoni E, Merelli B, Pellegrini S, Morgese F, Danesi R, Calò V, Bazan V, D'Elia AV, Molica C, Gensini F, Sala E, Uliana V, Soma PF, Genuardi M, Ballestrero A, Spagnolo F, Tanda E, Queirolo P, Mandalà M, Stanganelli I, Palmieri G, Menin C; Italian Melanoma Intergroup (IMI), Pastorino L, Ghiorzo P
ESMO Open 2022 Aug;7(4):100525. Epub 2022 Jun 28 doi: 10.1016/j.esmoop.2022.100525. PMID: 35777164Free 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
Gomez GVB, Rinck-Junior JA, Oliveira C, Silva DHL, Mamoni RL, Lourenço GJ, Moraes AM, Lima CSP
Pigment Cell Melanoma Res 2018 Mar;31(2):308-317. Epub 2017 Nov 22 doi: 10.1111/pcmr.12665. PMID: 29090522
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

Bruno W, Dalmasso B, Barile M, Andreotti V, Elefanti L, Colombino M, Vanni I, Allavena E, Barbero F, Passoni E, Merelli B, Pellegrini S, Morgese F, Danesi R, Calò V, Bazan V, D'Elia AV, Molica C, Gensini F, Sala E, Uliana V, Soma PF, Genuardi M, Ballestrero A, Spagnolo F, Tanda E, Queirolo P, Mandalà M, Stanganelli I, Palmieri G, Menin C; Italian Melanoma Intergroup (IMI), Pastorino L, Ghiorzo P
ESMO Open 2022 Aug;7(4):100525. Epub 2022 Jun 28 doi: 10.1016/j.esmoop.2022.100525. PMID: 35777164Free 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
Yaman B, Akalin T, Kandiloğlu G
Am J Dermatopathol 2015 May;37(5):389-97. doi: 10.1097/DAD.0000000000000241. PMID: 25357015
Beral V, Evans S, Shaw H, Milton G
Br J Dermatol 1983 Aug;109(2):165-72. doi: 10.1111/j.1365-2133.1983.tb07077.x. PMID: 6871096

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
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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