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Melanoma

MedGen UID:
9944
Concept ID:
C0025202
Neoplastic Process
Synonyms: Malignant Melanoma; Malignant Melanomas; Melanoma, Malignant; Melanomas; Melanomas, Malignant
SNOMED CT: Malignant melanoma (372244006); Melanosarcoma (372244006); MM - malignant melanoma (1162635006); Malignant melanoma (1162635006)
 
Related genes: XRCC3, TERT, STK11, MITF, MC1R, CDKN2A, CDK4, BRAF
 
HPO: HP:0002861
Monarch Initiative: MONDO:0005105
Orphanet: ORPHA411533

Definition

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.

Melanoma 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.

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).

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. [from MedlinePlus Genetics]

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: Acute sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure) with marked freckle-like pigmentation of the face before age two years; Sunlight-induced ocular involvement (photophobia, severe keratitis, atrophy of the skin of the lids, ocular surface neoplasms); Greatly increased risk of sunlight-induced cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma) within the first decade of life. Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, progressive cognitive impairment, and ataxia). 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: Acute sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure) with marked freckle-like pigmentation of the face before age two years; Sunlight-induced ocular involvement (photophobia, severe keratitis, atrophy of the skin of the lids, ocular surface neoplasms); Greatly increased risk of sunlight-induced cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma) within the first decade of life. Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, progressive cognitive impairment, and ataxia). 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: Acute sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure) with marked freckle-like pigmentation of the face before age two years; Sunlight-induced ocular involvement (photophobia, severe keratitis, atrophy of the skin of the lids, ocular surface neoplasms); Greatly increased risk of sunlight-induced cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma) within the first decade of life. Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, progressive cognitive impairment, and ataxia). 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).
Melanoma, cutaneous malignant, susceptibility to, 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.
Tumor predisposition syndrome 3
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.
Dyskeratosis congenita, digenic
MedGen UID:
1823990
Concept ID:
C5774217
Disease or Syndrome
Digenic dyskeratosis congenita (DKCD) is characterized clinically by a combination of mucocutaneous features including abnormal skin pigmentation, nail dystrophy, thin hair, and oral leukoplakia. Some patients may have evidence of bone marrow failure, manifest as immune defects such as recurrent infections or hypogammaglobulinemia. Telomeres are shortened in patient cells. Individuals with DKCD may show severe adverse reactions to treatment with 5-FU (Tummala et al., 2022). For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (127550).

Professional guidelines

PubMed

Garbe C, Amaral T, Peris K, Hauschild A, Arenberger P, Basset-Seguin N, Bastholt L, Bataille V, Del Marmol V, Dréno B, Fargnoli MC, Forsea AM, Grob JJ, Höller C, Kaufmann R, Kelleners-Smeets N, Lallas A, Lebbé C, Lytvynenko B, Malvehy J, Moreno-Ramirez D, Nathan P, Pellacani G, Saiag P, Stratigos AJ, Van Akkooi ACJ, Vieira R, Zalaudek I, Lorigan P; European Dermatology Forum (EDF), the European Association of Dermato-Oncology (EADO), and the European Organization for Research and Treatment of Cancer (EORTC)
Eur J Cancer 2022 Jul;170:236-255. Epub 2022 May 12 doi: 10.1016/j.ejca.2022.03.008. PMID: 35570085
Darnell EP, Mooradian MJ, Baruch EN, Yilmaz M, Reynolds KL
Curr Oncol Rep 2020 Mar 21;22(4):39. doi: 10.1007/s11912-020-0897-9. PMID: 32200442
Davis LE, Shalin SC, Tackett AJ
Cancer Biol Ther 2019;20(11):1366-1379. Epub 2019 Aug 1 doi: 10.1080/15384047.2019.1640032. PMID: 31366280Free PMC Article

Curated

UK NICE Guideline NG14, Melanoma: assessment and management, 2022

Suggested Reading

Recent clinical studies

Etiology

Bobos M
Ital J Dermatol Venerol 2021 Jun;156(3):300-321. Epub 2021 May 13 doi: 10.23736/S2784-8671.21.06958-3. PMID: 33982546
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
Pavri SN, Clune J, Ariyan S, Narayan D
Plast Reconstr Surg 2016 Aug;138(2):330e-340e. doi: 10.1097/PRS.0000000000002367. PMID: 27465194
Rastrelli M, Tropea S, Rossi CR, Alaibac M
In Vivo 2014 Nov-Dec;28(6):1005-11. PMID: 25398793
Abbas O, Miller DD, Bhawan J
Am J Dermatopathol 2014 May;36(5):363-79. doi: 10.1097/DAD.0b013e31828a2ec5. PMID: 24803061

Diagnosis

Sen S, Sen S, Kumari MG, Khan S, Singh S
Prague Med Rep 2021;122(3):222-227. doi: 10.14712/23362936.2021.20. PMID: 34606435
Bobos M
Ital J Dermatol Venerol 2021 Jun;156(3):300-321. Epub 2021 May 13 doi: 10.23736/S2784-8671.21.06958-3. PMID: 33982546
Marghoob NG, Liopyris K, Jaimes N
J Am Osteopath Assoc 2019 Jun 1;119(6):380-390. doi: 10.7556/jaoa.2019.067. PMID: 31135866
Pavri SN, Clune J, Ariyan S, Narayan D
Plast Reconstr Surg 2016 Aug;138(2):330e-340e. doi: 10.1097/PRS.0000000000002367. PMID: 27465194
Rastrelli M, Tropea S, Rossi CR, Alaibac M
In Vivo 2014 Nov-Dec;28(6):1005-11. PMID: 25398793

Therapy

Long GV, Menzies AM, Scolyer RA
J Clin Oncol 2023 Jun 10;41(17):3236-3248. Epub 2023 Apr 27 doi: 10.1200/JCO.22.02575. PMID: 37104746
Rantala ES, Hernberg MM, Piperno-Neumann S, Grossniklaus HE, Kivelä TT
Prog Retin Eye Res 2022 Sep;90:101041. Epub 2022 Jan 6 doi: 10.1016/j.preteyeres.2022.101041. PMID: 34999237
Randic T, Kozar I, Margue C, Utikal J, Kreis S
Cancer Treat Rev 2021 Sep;99:102238. Epub 2021 May 29 doi: 10.1016/j.ctrv.2021.102238. PMID: 34098219
Versluis JM, Long GV, Blank CU
Nat Med 2020 Apr;26(4):475-484. Epub 2020 Apr 9 doi: 10.1038/s41591-020-0829-0. PMID: 32273608
Russell SJ, Peng KW, Bell JC
Nat Biotechnol 2012 Jul 10;30(7):658-70. doi: 10.1038/nbt.2287. PMID: 22781695Free PMC Article

Prognosis

Miller KD, Fidler-Benaoudia M, Keegan TH, Hipp HS, Jemal A, Siegel RL
CA Cancer J Clin 2020 Nov;70(6):443-459. Epub 2020 Sep 17 doi: 10.3322/caac.21637. PMID: 32940362
Siegel RL, Miller KD, Jemal A
CA Cancer J Clin 2020 Jan;70(1):7-30. Epub 2020 Jan 8 doi: 10.3322/caac.21590. PMID: 31912902
Soteriades ES, Kim J, Christophi CA, Kales SN
Asian Pac J Cancer Prev 2019 Nov 1;20(11):3221-3231. doi: 10.31557/APJCP.2019.20.11.3221. PMID: 31759344Free PMC Article
Miller KD, Nogueira L, Mariotto AB, Rowland JH, Yabroff KR, Alfano CM, Jemal A, Kramer JL, Siegel RL
CA Cancer J Clin 2019 Sep;69(5):363-385. Epub 2019 Jun 11 doi: 10.3322/caac.21565. PMID: 31184787
Ferlay J, Colombet M, Soerjomataram I, Mathers C, Parkin DM, Piñeros M, Znaor A, Bray F
Int J Cancer 2019 Apr 15;144(8):1941-1953. Epub 2018 Dec 6 doi: 10.1002/ijc.31937. PMID: 30350310

Clinical prediction guides

Lommerts JE, Bekkenk MW, Luiten RM
Expert Opin Drug Saf 2021 Aug;20(8):883-888. Epub 2021 Apr 27 doi: 10.1080/14740338.2021.1915279. PMID: 33896329
Wells A, Patel S, Lee JB, Motaparthi K
J Cutan Pathol 2021 Aug;48(8):1061-1068. Epub 2021 Jan 26 doi: 10.1111/cup.13954. PMID: 33421167
Crompton JG, Busam KJ, Bartlett EK
Surg Oncol Clin N Am 2020 Jul;29(3):327-338. doi: 10.1016/j.soc.2020.02.013. PMID: 32482311
Scolyer RA, Rawson RV, Gershenwald JE, Ferguson PM, Prieto VG
Mod Pathol 2020 Jan;33(Suppl 1):15-24. Epub 2019 Nov 22 doi: 10.1038/s41379-019-0402-x. PMID: 31758078
Brenn T
Adv Anat Pathol 2014 Mar;21(2):108-30. doi: 10.1097/PAP.0000000000000009. PMID: 24508694

Recent systematic reviews

Seth R, Agarwala SS, Messersmith H, Alluri KC, Ascierto PA, Atkins MB, Bollin K, Chacon M, Davis N, Faries MB, Funchain P, Gold JS, Guild S, Gyorki DE, Kaur V, Khushalani NI, Kirkwood JM, McQuade JL, Meyers MO, Provenzano A, Robert C, Santinami M, Sehdev A, Sondak VK, Spurrier G, Swami U, Truong TG, Tsai KK, van Akkooi A, Weber J
J Clin Oncol 2023 Oct 20;41(30):4794-4820. Epub 2023 Aug 14 doi: 10.1200/JCO.23.01136. PMID: 37579248
Pampena R, Piccolo V, Muscianese M, Kyrgidis A, Lai M, Russo T, Briatico G, Di Brizzi EV, Cascone G, Pellerone S, Longo C, Moscarella E, Argenziano G
J Eur Acad Dermatol Venereol 2023 Sep;37(9):1758-1776. Epub 2023 Jun 2 doi: 10.1111/jdv.19220. PMID: 37210654
Alonso-Belmonte C, Montero-Vilchez T, Arias-Santiago S, Buendía-Eisman A
Actas Dermosifiliogr 2022 Sep;113(8):781-791. Epub 2022 May 5 doi: 10.1016/j.ad.2022.04.015. PMID: 35526566
Lopes FCPS, Sleiman MG, Sebastian K, Bogucka R, Jacobs EA, Adamson AS
JAMA Dermatol 2021 Feb 1;157(2):213-219. doi: 10.1001/jamadermatol.2020.4616. PMID: 33325988
Silva ESD, Tavares R, Paulitsch FDS, Zhang L
Eur J Dermatol 2018 Apr 1;28(2):186-201. doi: 10.1684/ejd.2018.3251. PMID: 29620003

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

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      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NICE, 2022
      UK NICE Guideline NG14, Melanoma: assessment and management, 2022

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