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Hereditary melanoma

MedGen UID:
268851
Concept ID:
C1512419
Neoplastic Process
Synonyms: Familial melanoma; Hereditary cutaneous melanoma
 
Related genes: XRCC3, TERT, STK11, MITF, MC1R, CDKN2A, CDK4, BRAF
 
Monarch Initiative: MONDO:0018961
Orphanet: ORPHA618

Definition

Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family. [from ORDO]

Additional descriptions

From MedlinePlus Genetics
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\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\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).  https://medlineplus.gov/genetics/condition/melanoma
From MedlinePlus Genetics
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.  https://medlineplus.gov/genetics/condition/melanoma

Suggested Reading

Recent clinical studies

Etiology

Ribeiro Moura Brasil Arnaut J, Dos Santos Guimarães I, Evangelista Dos Santos AC, de Moraes Lino da Silva F, Machado JR, de Melo AC
Crit Rev Oncol Hematol 2021 Aug;164:103425. Epub 2021 Jul 7 doi: 10.1016/j.critrevonc.2021.103425. PMID: 34245855
Campos C, Fragoso S, Luís R, Pinto F, Brito C, Esteves S, Pataco M, Santos S, Machado P, Vicente JB, Rosa JC, Cavaco BM, Moura C, Pojo M
Genes (Basel) 2020 Apr 8;11(4) doi: 10.3390/genes11040403. PMID: 32276436Free PMC Article
Artomov M, Stratigos AJ, Kim I, Kumar R, Lauss M, Reddy BY, Miao B, Daniela Robles-Espinoza C, Sankar A, Njauw CN, Shannon K, Gragoudas ES, Marie Lane A, Iyer V, Newton-Bishop JA, Timothy Bishop D, Holland EA, Mann GJ, Singh T, Daly MJ, Tsao H
J Natl Cancer Inst 2017 Dec 1;109(12) doi: 10.1093/jnci/djx083. PMID: 29522175Free PMC Article
Soura E, Eliades PJ, Shannon K, Stratigos AJ, Tsao H
J Am Acad Dermatol 2016 Mar;74(3):395-407; quiz 408-10. doi: 10.1016/j.jaad.2015.08.038. PMID: 26892650Free PMC Article
Thunell LK, Bivik C, Wäster P, Fredrikson M, Stjernström A, Synnerstad I, Rosdahl I, Enerbäck C
Melanoma Res 2014 Jun;24(3):190-7. doi: 10.1097/CMR.0000000000000063. PMID: 24625390

Diagnosis

Ribeiro Moura Brasil Arnaut J, Dos Santos Guimarães I, Evangelista Dos Santos AC, de Moraes Lino da Silva F, Machado JR, de Melo AC
Crit Rev Oncol Hematol 2021 Aug;164:103425. Epub 2021 Jul 7 doi: 10.1016/j.critrevonc.2021.103425. PMID: 34245855
Sá BCS, Moredo LF, Gomes EE, Araújo ESS, Duprat JP
An Bras Dermatol 2018 Jun;93(3):337-340. doi: 10.1590/abd1806-4841.20186201. PMID: 29924249Free PMC Article
Leachman SA, Lucero OM, Sampson JE, Cassidy P, Bruno W, Queirolo P, Ghiorzo P
Cancer Metastasis Rev 2017 Mar;36(1):77-90. doi: 10.1007/s10555-017-9661-5. PMID: 28283772Free PMC Article
Soura E, Eliades PJ, Shannon K, Stratigos AJ, Tsao H
J Am Acad Dermatol 2016 Mar;74(3):411-20; quiz 421-2. doi: 10.1016/j.jaad.2015.08.037. PMID: 26892651Free PMC Article
Soura E, Eliades PJ, Shannon K, Stratigos AJ, Tsao H
J Am Acad Dermatol 2016 Mar;74(3):395-407; quiz 408-10. doi: 10.1016/j.jaad.2015.08.038. PMID: 26892650Free PMC Article

Therapy

Taber JM, Aspinwall LG
J Genet Couns 2015 Oct;24(5):771-82. Epub 2015 Jan 14 doi: 10.1007/s10897-014-9808-2. PMID: 25582532
Aspinwall LG, Taber JM, Kohlmann W, Leaf SL, Leachman SA
Genet Med 2014 Nov;16(11):846-53. Epub 2014 Apr 24 doi: 10.1038/gim.2014.37. PMID: 24763292Free PMC Article
Shannon JA, Matias C, Luxford C, Kefford RF, Mann GJ
Melanoma Res 1999 Apr;9(2):133-7. doi: 10.1097/00008390-199904000-00004. PMID: 10380935

Prognosis

Artomov M, Stratigos AJ, Kim I, Kumar R, Lauss M, Reddy BY, Miao B, Daniela Robles-Espinoza C, Sankar A, Njauw CN, Shannon K, Gragoudas ES, Marie Lane A, Iyer V, Newton-Bishop JA, Timothy Bishop D, Holland EA, Mann GJ, Singh T, Daly MJ, Tsao H
J Natl Cancer Inst 2017 Dec 1;109(12) doi: 10.1093/jnci/djx083. PMID: 29522175Free PMC Article
Wang W, Niendorf KB, Patel D, Blackford A, Marroni F, Sober AJ, Parmigiani G, Tsao H
Cancer Res 2010 Jan 15;70(2):552-9. Epub 2010 Jan 12 doi: 10.1158/0008-5472.CAN-09-2653. PMID: 20068151Free PMC Article
Ashton-Prolla P, Bakos L, Junqueira G Jr, Giugliani R, Azevedo SJ, Hogg D
J Invest Dermatol 2008 Feb;128(2):421-5. Epub 2007 Aug 23 doi: 10.1038/sj.jid.5701030. PMID: 17713569
Riedijk SR, de Snoo FA, van Dijk S, Bergman W, van Haeringen A, Silberg S, van Elderen TM, Tibben A
Psychooncology 2005 Sep;14(9):738-45. doi: 10.1002/pon.901. PMID: 15744786
Greene MH
Cancer 1999 Dec 1;86(11 Suppl):2464-77. doi: 10.1002/(sici)1097-0142(19991201)86:11+<2464::aid-cncr3>3.0.co;2-f. PMID: 10630172

Clinical prediction guides

Campos C, Fragoso S, Luís R, Pinto F, Brito C, Esteves S, Pataco M, Santos S, Machado P, Vicente JB, Rosa JC, Cavaco BM, Moura C, Pojo M
Genes (Basel) 2020 Apr 8;11(4) doi: 10.3390/genes11040403. PMID: 32276436Free PMC Article
Leachman SA, Lucero OM, Sampson JE, Cassidy P, Bruno W, Queirolo P, Ghiorzo P
Cancer Metastasis Rev 2017 Mar;36(1):77-90. doi: 10.1007/s10555-017-9661-5. PMID: 28283772Free PMC Article
Wang W, Niendorf KB, Patel D, Blackford A, Marroni F, Sober AJ, Parmigiani G, Tsao H
Cancer Res 2010 Jan 15;70(2):552-9. Epub 2010 Jan 12 doi: 10.1158/0008-5472.CAN-09-2653. PMID: 20068151Free PMC Article
Riedijk SR, de Snoo FA, van Dijk S, Bergman W, van Haeringen A, Silberg S, van Elderen TM, Tibben A
Psychooncology 2005 Sep;14(9):738-45. doi: 10.1002/pon.901. PMID: 15744786
Greene MH
Cancer 1999 Dec 1;86(11 Suppl):2464-77. doi: 10.1002/(sici)1097-0142(19991201)86:11+<2464::aid-cncr3>3.0.co;2-f. PMID: 10630172

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