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Melanoma

MedGen UID:
9944
Concept ID:
C0025202
Neoplastic Process
Synonyms: Malignant melanoma; Skin cancer (melanoma)
SNOMED CT: Malignant melanoma (372244006); MM - Malignant melanoma (2092003); Melanosarcoma (372244006); Malignant melanoma, no ICD-O subtype (2092003); Malignant melanoma, no International Classification of Diseases for Oncology subtype (2092003); Malignant melanoma (2092003); Melanoma (2092003)
 
Related genes: XRCC3, TERT, STK11, MITF, MC1R, CDKN2A, CDK4, BRAF
 
HPO: HP:0002861

Definition

A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes. Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma. Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi. Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain. [from NCI]

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

Term Hierarchy

Conditions with this feature

DE SANCTIS-CACCHIONE SYNDROME
MedGen UID:
75550
Concept ID:
C0265201
Disease or Syndrome
A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities.
Xeroderma pigmentosum group A
MedGen UID:
82775
Concept ID:
C0268135
Disease or Syndrome
Xeroderma pigmentosum (XP) is characterized by: Sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure in ~60% of affected individuals), with marked freckle-like pigmentation of the face before age two years in most affected individuals; Sunlight-induced ocular involvement (photophobia, keratitis, atrophy of the skin of the lids); Greatly increased risk of sunlight-induced cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma). Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, and progressive cognitive impairment). The most common causes of death are skin cancer, neurologic degeneration, and internal cancer. The median age at death in persons with XP with neurodegeneration (29 years) was found to be younger than that in persons with XP without neurodegeneration (37 years).
Xeroderma pigmentosum, group D
MedGen UID:
75656
Concept ID:
C0268138
Disease or Syndrome
Xeroderma pigmentosum (XP) is characterized by: Sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure in ~60% of affected individuals), with marked freckle-like pigmentation of the face before age two years in most affected individuals; Sunlight-induced ocular involvement (photophobia, keratitis, atrophy of the skin of the lids); Greatly increased risk of sunlight-induced cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma). Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, and progressive cognitive impairment). The most common causes of death are skin cancer, neurologic degeneration, and internal cancer. The median age at death in persons with XP with neurodegeneration (29 years) was found to be younger than that in persons with XP without neurodegeneration (37 years).
Neurocutaneous melanocytosis
MedGen UID:
154259
Concept ID:
C0544862
Congenital Abnormality
Neurocutaneous melanosis, or neuromelanosis, is characterized by the presence of melanin-producing cells within the brain parenchyma or leptomeninges, which may lead to clinically apparent neurologic signs and symptoms, such as seizures. Other neurologic abnormalities, including hydrocephalus, arachnoid cysts, tumors, and syringomyelia, may also occur. The disorder is a rare but severe manifestation of congenital melanocytic nevus syndrome (CMNS; 137550). Some patients with neurocutaneous melanosis or CMNS may develop malignant melanoma. The incidence of neurologic involvement, development of malignant melanoma, and death is significantly associated with the projected adult size of the largest congenital melanocytic nevus, particularly those greater than 40 cm (summary by Kinsler et al., 2008; Kinsler et al., 2013).
Melanoma-pancreatic cancer syndrome
MedGen UID:
325450
Concept ID:
C1838547
Disease or Syndrome
Melanoma-pancreatic cancer syndrome is an inherited cancer predisposition syndrome in which mutation carriers have an increased risk of developing malignant melanoma and/or pancreatic cancer. Mutation carriers within families may develop either or both types of cancer (summary by Harinck et al., 2012). For background and phenotypic information on malignant melanoma and pancreatic cancer, see 155600 and 260350, respectively.
Xeroderma pigmentosum, group E
MedGen UID:
341219
Concept ID:
C1848411
Congenital Abnormality
Xeroderma pigmentosum (XP) is characterized by: Sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure in ~60% of affected individuals), with marked freckle-like pigmentation of the face before age two years in most affected individuals; Sunlight-induced ocular involvement (photophobia, keratitis, atrophy of the skin of the lids); Greatly increased risk of sunlight-induced cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma). Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, and progressive cognitive impairment). The most common causes of death are skin cancer, neurologic degeneration, and internal cancer. The median age at death in persons with XP with neurodegeneration (29 years) was found to be younger than that in persons with XP without neurodegeneration (37 years).
Cutaneous malignant melanoma 9
MedGen UID:
767488
Concept ID:
C3554574
Finding
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.
Melanoma, cutaneous malignant, susceptibility to, 10
MedGen UID:
862913
Concept ID:
C4014476
Finding
POT1 tumor predisposition (POT1-TPD) is characterized by an increased lifetime risk for multiple cutaneous melanomas, chronic lymphocytic leukemia (CLL), angiosarcoma (particularly cardiac angiosarcomas), and gliomas. Additional cancers (e.g., colorectal cancer, thyroid cancer, breast angiosarcomas) have been reported in individuals with POT1-TPD but with very limited evidence. The age of onset for first primary cutaneous melanoma ranges from 15 to 80 years. The majority of POT1 associated cancers are diagnosed in adulthood.
Pancreatic cancer, susceptibility to, 5
MedGen UID:
1684838
Concept ID:
C5231459
Finding
Susceptibility to pancreatic ductal adenocarcinoma (PDAC) may be conferred by mutation in RABL3. Other cancers, including melanoma, breast cancer, and colon cancer, have been reported in RABL3 mutation-carrying individuals, with or without PDAC (Nissim et al., 2019). For background, phenotypic description, and a discussion of genetic heterogeneity of pancreatic carcinoma, see 260350.

Suggested Reading

Recent clinical studies

Etiology

Xu M, Mehl L, Zhang T, Thakur R, Sowards H, Myers T, Jessop L, Chesi A, Johnson ME, Wells AD, Michael HT, Bunda P, Jones K, Higson H, Hennessey RC, Jermusyk A, Kovacs MA, Landi MT, Iles MM, Goldstein AM; Melanoma Meta-Analysis Consortium., Choi J, Chanock SJ, Grant SFA, Chari R, Merlino G, Law MH, Brown KM
Am J Hum Genet 2021 Sep 2;108(9):1611-1630. Epub 2021 Aug 2 doi: 10.1016/j.ajhg.2021.07.002. PMID: 34343493
Smithers BM, Saw RPM, Gyorki DE, Martin RCW, Atkinson V, Haydon A, Roberts-Thomson R, Thompson JF
ANZ J Surg 2021 Aug;91 Suppl 2:3-13. doi: 10.1111/ans.17051. PMID: 34288329
Bottomley A, Coens C, Mierzynska J, Blank CU, Mandalà M, Long GV, Atkinson VG, Dalle S, Haydon AM, Meshcheryakov A, Khattak A, Carlino MS, Sandhu S, Puig S, Ascierto PA, Larkin J, Lorigan PC, Rutkowski P, Schadendorf D, Koornstra R, Hernandez-Aya L, Di Giacomo AM, van den Eertwegh AJM, Grob JJ, Gutzmer R, Jamal R, van Akkooi ACJ, Krepler C, Ibrahim N, Marreaud S, Kicinski M, Suciu S, Robert C, Eggermont AMM; EORTC Melanoma Group.
Lancet Oncol 2021 May;22(5):655-664. Epub 2021 Apr 12 doi: 10.1016/S1470-2045(21)00081-4. PMID: 33857414
Vecchiato A, Mocellin S, Del Fiore P, Tosti G, Ascierto PA, Corradin MT, De Giorgi V, Giudice G, Queirolo P, Ferreli C, Occelli M, Giordano M, Trevisan G, Mascheroni L, Testori A, Spina R, Buja A, Cavallin F, Caracò C, Sommariva A, Rossi CR; Clinical National Melanoma Registry Study Group at the Italian Melanoma Intergroup (IMI).
BMC Cancer 2021 Jan 5;21(1):8. doi: 10.1186/s12885-020-07705-4. PMID: 33402122Free PMC Article
Hoefsmit EP, Rozeman EA, Van TM, Dimitriadis P, Krijgsman O, Conway JW, Pires da Silva I, van der Wal JE, Ketelaars SLC, Bresser K, Broeks A, Kerkhoven RM, Reeves JW, Warren S, Kvistborg P, Scolyer RA, Kapiteijn EW, Peeper DS, Long GV, Schumacher TNM, Blank CU
J Immunother Cancer 2020 Dec;8(2) doi: 10.1136/jitc-2020-001501. PMID: 33262254Free PMC Article

Diagnosis

Ascierto PA, Blank C, Dummer R, Ernstoff MS, Ferrone S, Fox BA, Gajewski TF, Garbe C, Hwu P, Kalinski P, Krogsgaard M, Lo RS, Luke JJ, Neyns B, Postow MA, Quezada SA, Teng MWL, Trinchieri G, Testori A, Caracò C, Osman I, Puzanov I, Thurin M
J Transl Med 2021 Jun 30;19(1):278. doi: 10.1186/s12967-021-02951-x. PMID: 34193182Free PMC Article
Williams GJ, Webster AC, Thompson JF
Clin Transplant 2021 Jun;35(6):e14287. Epub 2021 Apr 7 doi: 10.1111/ctr.14287. PMID: 33720403
Filoni A, Del Fiore P, Cappellesso R, Dall'Olmo L, Salimian N, Spina R, Tropea S, Rastrelli M, Russano F, D'Amico M, Collodetto A, Rossi CR, Buja A, Vecchiato A, Alaibac M, Mocellin S
Dermatol Ther 2021 May;34(3):e14908. Epub 2021 Mar 8 doi: 10.1111/dth.14908. PMID: 33619813Free PMC Article
Szumera-Ciećkiewicz A, Bosisio F, Teterycz P, Antoranz A, Delogu F, Koljenović S, van de Wiel BA, Blokx W, van Kempen LC, Rutkowski P, Christopher van Akkooi A, Cook M, Massi D; EORTC Melanoma Group.
Eur J Cancer 2020 Sep;137:175-182. Epub 2020 Aug 8 doi: 10.1016/j.ejca.2020.06.037. PMID: 32781392
Gualdi G, Panarese F, Meogrossi G, Marchioni M, De Tursi M, Di Marino P, Angelucci D, Amatetti M, Proietto G, Di Nicola M, Amerio P; GICO Melanoma Group.
Pigment Cell Melanoma Res 2020 Sep;33(5):709-718. Epub 2020 Jun 11 doi: 10.1111/pcmr.12890. PMID: 32406598

Therapy

Xu M, Mehl L, Zhang T, Thakur R, Sowards H, Myers T, Jessop L, Chesi A, Johnson ME, Wells AD, Michael HT, Bunda P, Jones K, Higson H, Hennessey RC, Jermusyk A, Kovacs MA, Landi MT, Iles MM, Goldstein AM; Melanoma Meta-Analysis Consortium., Choi J, Chanock SJ, Grant SFA, Chari R, Merlino G, Law MH, Brown KM
Am J Hum Genet 2021 Sep 2;108(9):1611-1630. Epub 2021 Aug 2 doi: 10.1016/j.ajhg.2021.07.002. PMID: 34343493
Giugliano F, Crimini E, Tarantino P, Zagami P, Uliano J, Corti C, Trapani D, Curigliano G, Ascierto PA
Cancer Treat Rev 2021 Sep;99:102253. Epub 2021 Jun 18 doi: 10.1016/j.ctrv.2021.102253. PMID: 34186441
Bottomley A, Coens C, Mierzynska J, Blank CU, Mandalà M, Long GV, Atkinson VG, Dalle S, Haydon AM, Meshcheryakov A, Khattak A, Carlino MS, Sandhu S, Puig S, Ascierto PA, Larkin J, Lorigan PC, Rutkowski P, Schadendorf D, Koornstra R, Hernandez-Aya L, Di Giacomo AM, van den Eertwegh AJM, Grob JJ, Gutzmer R, Jamal R, van Akkooi ACJ, Krepler C, Ibrahim N, Marreaud S, Kicinski M, Suciu S, Robert C, Eggermont AMM; EORTC Melanoma Group.
Lancet Oncol 2021 May;22(5):655-664. Epub 2021 Apr 12 doi: 10.1016/S1470-2045(21)00081-4. PMID: 33857414
Dimitriou F, Long GV, Menzies AM
Ann Oncol 2021 Jul;32(7):854-865. Epub 2021 Mar 24 doi: 10.1016/j.annonc.2021.03.198. PMID: 33771664
Williams GJ, Webster AC, Thompson JF
Clin Transplant 2021 Jun;35(6):e14287. Epub 2021 Apr 7 doi: 10.1111/ctr.14287. PMID: 33720403

Prognosis

Xu M, Mehl L, Zhang T, Thakur R, Sowards H, Myers T, Jessop L, Chesi A, Johnson ME, Wells AD, Michael HT, Bunda P, Jones K, Higson H, Hennessey RC, Jermusyk A, Kovacs MA, Landi MT, Iles MM, Goldstein AM; Melanoma Meta-Analysis Consortium., Choi J, Chanock SJ, Grant SFA, Chari R, Merlino G, Law MH, Brown KM
Am J Hum Genet 2021 Sep 2;108(9):1611-1630. Epub 2021 Aug 2 doi: 10.1016/j.ajhg.2021.07.002. PMID: 34343493
Smithers BM, Saw RPM, Gyorki DE, Martin RCW, Atkinson V, Haydon A, Roberts-Thomson R, Thompson JF
ANZ J Surg 2021 Aug;91 Suppl 2:3-13. doi: 10.1111/ans.17051. PMID: 34288329
Giugliano F, Crimini E, Tarantino P, Zagami P, Uliano J, Corti C, Trapani D, Curigliano G, Ascierto PA
Cancer Treat Rev 2021 Sep;99:102253. Epub 2021 Jun 18 doi: 10.1016/j.ctrv.2021.102253. PMID: 34186441
Vecchiato A, Mocellin S, Del Fiore P, Tosti G, Ascierto PA, Corradin MT, De Giorgi V, Giudice G, Queirolo P, Ferreli C, Occelli M, Giordano M, Trevisan G, Mascheroni L, Testori A, Spina R, Buja A, Cavallin F, Caracò C, Sommariva A, Rossi CR; Clinical National Melanoma Registry Study Group at the Italian Melanoma Intergroup (IMI).
BMC Cancer 2021 Jan 5;21(1):8. doi: 10.1186/s12885-020-07705-4. PMID: 33402122Free PMC Article
Hoefsmit EP, Rozeman EA, Van TM, Dimitriadis P, Krijgsman O, Conway JW, Pires da Silva I, van der Wal JE, Ketelaars SLC, Bresser K, Broeks A, Kerkhoven RM, Reeves JW, Warren S, Kvistborg P, Scolyer RA, Kapiteijn EW, Peeper DS, Long GV, Schumacher TNM, Blank CU
J Immunother Cancer 2020 Dec;8(2) doi: 10.1136/jitc-2020-001501. PMID: 33262254Free PMC Article

Clinical prediction guides

Xu M, Mehl L, Zhang T, Thakur R, Sowards H, Myers T, Jessop L, Chesi A, Johnson ME, Wells AD, Michael HT, Bunda P, Jones K, Higson H, Hennessey RC, Jermusyk A, Kovacs MA, Landi MT, Iles MM, Goldstein AM; Melanoma Meta-Analysis Consortium., Choi J, Chanock SJ, Grant SFA, Chari R, Merlino G, Law MH, Brown KM
Am J Hum Genet 2021 Sep 2;108(9):1611-1630. Epub 2021 Aug 2 doi: 10.1016/j.ajhg.2021.07.002. PMID: 34343493
Bottomley A, Coens C, Mierzynska J, Blank CU, Mandalà M, Long GV, Atkinson VG, Dalle S, Haydon AM, Meshcheryakov A, Khattak A, Carlino MS, Sandhu S, Puig S, Ascierto PA, Larkin J, Lorigan PC, Rutkowski P, Schadendorf D, Koornstra R, Hernandez-Aya L, Di Giacomo AM, van den Eertwegh AJM, Grob JJ, Gutzmer R, Jamal R, van Akkooi ACJ, Krepler C, Ibrahim N, Marreaud S, Kicinski M, Suciu S, Robert C, Eggermont AMM; EORTC Melanoma Group.
Lancet Oncol 2021 May;22(5):655-664. Epub 2021 Apr 12 doi: 10.1016/S1470-2045(21)00081-4. PMID: 33857414
Dimitriou F, Long GV, Menzies AM
Ann Oncol 2021 Jul;32(7):854-865. Epub 2021 Mar 24 doi: 10.1016/j.annonc.2021.03.198. PMID: 33771664
Hoefsmit EP, Rozeman EA, Van TM, Dimitriadis P, Krijgsman O, Conway JW, Pires da Silva I, van der Wal JE, Ketelaars SLC, Bresser K, Broeks A, Kerkhoven RM, Reeves JW, Warren S, Kvistborg P, Scolyer RA, Kapiteijn EW, Peeper DS, Long GV, Schumacher TNM, Blank CU
J Immunother Cancer 2020 Dec;8(2) doi: 10.1136/jitc-2020-001501. PMID: 33262254Free PMC Article
Gualdi G, Panarese F, Meogrossi G, Marchioni M, De Tursi M, Di Marino P, Angelucci D, Amatetti M, Proietto G, Di Nicola M, Amerio P; GICO Melanoma Group.
Pigment Cell Melanoma Res 2020 Sep;33(5):709-718. Epub 2020 Jun 11 doi: 10.1111/pcmr.12890. PMID: 32406598

Recent systematic reviews

Williams GJ, Webster AC, Thompson JF
Clin Transplant 2021 Jun;35(6):e14287. Epub 2021 Apr 7 doi: 10.1111/ctr.14287. PMID: 33720403
Gandini S, Zanna I, De Angelis S, Palli D, Raimondi S, Ribero S, Masala G, Suppa M, Bellerba F, Corso F, Nezi L, Nagore E, Caini S
Crit Rev Oncol Hematol 2021 Apr;160:103288. Epub 2021 Mar 3 doi: 10.1016/j.critrevonc.2021.103288. PMID: 33675908
Vargas-Mora P, Peruilh-Bagolini L, González-Cuevas R, Ferrer-Rosende P
J Am Acad Dermatol 2021 Jul;85(1):128-134. Epub 2021 Jan 16 doi: 10.1016/j.jaad.2021.01.020. PMID: 33465429
von Knorring T, Mogensen M
Photodiagnosis Photodyn Ther 2021 Mar;33:102095. Epub 2020 Nov 11 doi: 10.1016/j.pdpdt.2020.102095. PMID: 33188938
Schizas D, Tomara N, Katsaros I, Sakellariou S, Machairas N, Paspala A, Tsilimigras DI, Papanikolaou IS, Mantas D
ANZ J Surg 2021 Mar;91(3):269-275. Epub 2020 Jul 20 doi: 10.1111/ans.16160. PMID: 32687691

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