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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

Definition

The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea). [from HPO]

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.
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.

Professional guidelines

PubMed

Majem M, Manzano JL, Marquez-Rodas I, Mujika K, Muñoz-Couselo E, Pérez-Ruiz E, de la Cruz-Merino L, Espinosa E, Gonzalez-Cao M, Berrocal A
Clin Transl Oncol 2021 May;23(5):948-960. Epub 2021 Mar 2 doi: 10.1007/s12094-020-02539-9. PMID: 33651321Free PMC Article

Suggested Reading

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
Tropea S, Del Fiore P, Maurichi A, Patuzzo R, Santinami M, Ribero S, Quaglino P, Caliendo V, Borgognoni L, Sestini S, Giudice G, Nacchiero E, Caracò C, Cordova A, Solari N, Piazzalunga D, Tauceri F, Carcoforo P, Lombardo M, Cavallari S, Mocellin S; Italian Melanoma Intergroup (IMI).
BMC Cancer 2022 Jun 3;22(1):610. doi: 10.1186/s12885-022-09705-y. PMID: 35659273Free PMC Article
Kennedy OJ, Kicinski M, Valpione S, Gandini S, Suciu S, Blank CU, Long GV, Atkinson VG, Dalle S, Haydon AM, Meshcheryakov A, Khattak A, Carlino MS, Sandhu S, Larkin J, Puig S, Ascierto PA, 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, Robert C, Eggermont AMM, Lorigan P, Mandala M
Eur J Cancer 2022 Apr;165:97-112. Epub 2022 Feb 24 doi: 10.1016/j.ejca.2022.01.017. PMID: 35220182
Pennington TE, Zhao CY, Colebatch AJ, Fernandez-Peñas P, Guitera P, Burke H, Scolyer RA, Menzies AM, Carlino MS, Lo S, Long GV, Saw RP
Australas J Dermatol 2022 May;63(2):e133-e137. Epub 2022 Feb 21 doi: 10.1111/ajd.13807. PMID: 35188271Free PMC Article
Goldinger SM, Buder-Bakhaya K, Lo SN, Forschner A, McKean M, Zimmer L, Khoo C, Dummer R, Eroglu Z, Buchbinder EI, Ascierto PA, Gutzmer R, Rozeman EA, Hoeller C, Johnson DB, Gesierich A, Kölblinger P, Bennannoune N, Cohen JV, Kähler KC, Wilson MA, Cebon J, Atkinson V, Smith JL, Michielin O, Long GV, Hassel JC, Weide B, Haydu LE, Schadendorf D, McArthur G, Ott PA, Blank C, Robert C, Sullivan R, Hauschild A, Carlino MS, Garbe C, Davies MA, Menzies AM
Eur J Cancer 2022 Feb;162:22-33. Epub 2021 Dec 21 doi: 10.1016/j.ejca.2021.11.022. PMID: 34952480

Diagnosis

Seviiri M, Scolyer RA, Bishop DT, Newton-Bishop JA, Iles MM, Lo SN, Stretch JR, Saw RPM, Nieweg OE, Shannon KF, Spillane AJ, Gordon SD, Olsen CM, Whiteman DC, Landi MT, Thompson JF, Long GV, MacGregor S, Law MH
J Transl Med 2022 Sep 5;20(1):403. doi: 10.1186/s12967-022-03613-2. PMID: 36064556Free PMC Article
Ascierto PA, Agarwala SS, Blank C, Caracò C, Carvajal RD, Ernstoff MS, Ferrone S, Fox BA, Gajewski TF, Garbe C, Grob JJ, Hamid O, Krogsgaard M, Lo RS, Lund AW, Madonna G, Michielin O, Neyns B, Osman I, Peters S, Poulikakos PI, Quezada SA, Reinfeld B, Zitvogel L, Puzanov I, Thurin M
J Transl Med 2022 Sep 4;20(1):391. doi: 10.1186/s12967-022-03592-4. PMID: 36058945Free PMC Article
Larkin J, Weber J, Del Vecchio M, Gogas H, Arance AM, Dalle S, Cowey CL, Schenker M, Grob JJ, Chiarion-Sileni V, Márquez-Rodas I, Butler MO, Di Giacomo AM, Middleton MR, De la Cruz-Merino L, Arenberger P, Atkinson V, Hill A, Fecher LA, Millward M, Khushalani NI, Queirolo P, Long GV, Lobo M, Askelson M, Ascierto PA, Mandalá M
Eur J Cancer 2022 Sep;173:285-296. Epub 2022 Aug 11 doi: 10.1016/j.ejca.2022.06.041. PMID: 35964471
Beisel C, Poretta T, Sheppard VB, Hurtado-de Mendoza A, Sipsma H, Fuqua E, Stwalley B, Salvatore A, Yang M
Adv Ther 2022 Sep;39(9):4061-4075. Epub 2022 Jul 1 doi: 10.1007/s12325-022-02221-2. PMID: 35776398Free PMC Article
Pennington TE, Zhao CY, Colebatch AJ, Fernandez-Peñas P, Guitera P, Burke H, Scolyer RA, Menzies AM, Carlino MS, Lo S, Long GV, Saw RP
Australas J Dermatol 2022 May;63(2):e133-e137. Epub 2022 Feb 21 doi: 10.1111/ajd.13807. PMID: 35188271Free PMC Article

Therapy

Larkin J, Weber J, Del Vecchio M, Gogas H, Arance AM, Dalle S, Cowey CL, Schenker M, Grob JJ, Chiarion-Sileni V, Márquez-Rodas I, Butler MO, Di Giacomo AM, Middleton MR, De la Cruz-Merino L, Arenberger P, Atkinson V, Hill A, Fecher LA, Millward M, Khushalani NI, Queirolo P, Long GV, Lobo M, Askelson M, Ascierto PA, Mandalá M
Eur J Cancer 2022 Sep;173:285-296. Epub 2022 Aug 11 doi: 10.1016/j.ejca.2022.06.041. PMID: 35964471
Zhang S, Zhang J, Guo J, Si L, Bai X
Curr Oncol Rep 2022 Oct;24(10):1261-1271. Epub 2022 May 5 doi: 10.1007/s11912-022-01225-z. PMID: 35511393
Kennedy OJ, Kicinski M, Valpione S, Gandini S, Suciu S, Blank CU, Long GV, Atkinson VG, Dalle S, Haydon AM, Meshcheryakov A, Khattak A, Carlino MS, Sandhu S, Larkin J, Puig S, Ascierto PA, 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, Robert C, Eggermont AMM, Lorigan P, Mandala M
Eur J Cancer 2022 Apr;165:97-112. Epub 2022 Feb 24 doi: 10.1016/j.ejca.2022.01.017. PMID: 35220182
Pennington TE, Zhao CY, Colebatch AJ, Fernandez-Peñas P, Guitera P, Burke H, Scolyer RA, Menzies AM, Carlino MS, Lo S, Long GV, Saw RP
Australas J Dermatol 2022 May;63(2):e133-e137. Epub 2022 Feb 21 doi: 10.1111/ajd.13807. PMID: 35188271Free PMC Article
Goldinger SM, Buder-Bakhaya K, Lo SN, Forschner A, McKean M, Zimmer L, Khoo C, Dummer R, Eroglu Z, Buchbinder EI, Ascierto PA, Gutzmer R, Rozeman EA, Hoeller C, Johnson DB, Gesierich A, Kölblinger P, Bennannoune N, Cohen JV, Kähler KC, Wilson MA, Cebon J, Atkinson V, Smith JL, Michielin O, Long GV, Hassel JC, Weide B, Haydu LE, Schadendorf D, McArthur G, Ott PA, Blank C, Robert C, Sullivan R, Hauschild A, Carlino MS, Garbe C, Davies MA, Menzies AM
Eur J Cancer 2022 Feb;162:22-33. Epub 2021 Dec 21 doi: 10.1016/j.ejca.2021.11.022. PMID: 34952480

Prognosis

Conway JW, Rawson RV, Lo S, Ahmed T, Vergara IA, Gide TN, Attrill GH, Carlino MS, Saw RPM, Thompson JF, Spillane AJ, Shannon KF, Shivalingam B, Menzies AM, Wilmott JS, Long GV, Scolyer RA, Pires da Silva I
J Immunother Cancer 2022 Sep;10(9) doi: 10.1136/jitc-2022-004884. PMID: 36096531Free PMC Article
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
Tropea S, Del Fiore P, Maurichi A, Patuzzo R, Santinami M, Ribero S, Quaglino P, Caliendo V, Borgognoni L, Sestini S, Giudice G, Nacchiero E, Caracò C, Cordova A, Solari N, Piazzalunga D, Tauceri F, Carcoforo P, Lombardo M, Cavallari S, Mocellin S; Italian Melanoma Intergroup (IMI).
BMC Cancer 2022 Jun 3;22(1):610. doi: 10.1186/s12885-022-09705-y. PMID: 35659273Free PMC Article
Kennedy OJ, Kicinski M, Valpione S, Gandini S, Suciu S, Blank CU, Long GV, Atkinson VG, Dalle S, Haydon AM, Meshcheryakov A, Khattak A, Carlino MS, Sandhu S, Larkin J, Puig S, Ascierto PA, 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, Robert C, Eggermont AMM, Lorigan P, Mandala M
Eur J Cancer 2022 Apr;165:97-112. Epub 2022 Feb 24 doi: 10.1016/j.ejca.2022.01.017. PMID: 35220182
Pennington TE, Zhao CY, Colebatch AJ, Fernandez-Peñas P, Guitera P, Burke H, Scolyer RA, Menzies AM, Carlino MS, Lo S, Long GV, Saw RP
Australas J Dermatol 2022 May;63(2):e133-e137. Epub 2022 Feb 21 doi: 10.1111/ajd.13807. PMID: 35188271Free PMC Article

Clinical prediction guides

Seviiri M, Scolyer RA, Bishop DT, Newton-Bishop JA, Iles MM, Lo SN, Stretch JR, Saw RPM, Nieweg OE, Shannon KF, Spillane AJ, Gordon SD, Olsen CM, Whiteman DC, Landi MT, Thompson JF, Long GV, MacGregor S, Law MH
J Transl Med 2022 Sep 5;20(1):403. doi: 10.1186/s12967-022-03613-2. PMID: 36064556Free PMC Article
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
Tropea S, Del Fiore P, Maurichi A, Patuzzo R, Santinami M, Ribero S, Quaglino P, Caliendo V, Borgognoni L, Sestini S, Giudice G, Nacchiero E, Caracò C, Cordova A, Solari N, Piazzalunga D, Tauceri F, Carcoforo P, Lombardo M, Cavallari S, Mocellin S; Italian Melanoma Intergroup (IMI).
BMC Cancer 2022 Jun 3;22(1):610. doi: 10.1186/s12885-022-09705-y. PMID: 35659273Free PMC Article
Kennedy OJ, Kicinski M, Valpione S, Gandini S, Suciu S, Blank CU, Long GV, Atkinson VG, Dalle S, Haydon AM, Meshcheryakov A, Khattak A, Carlino MS, Sandhu S, Larkin J, Puig S, Ascierto PA, 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, Robert C, Eggermont AMM, Lorigan P, Mandala M
Eur J Cancer 2022 Apr;165:97-112. Epub 2022 Feb 24 doi: 10.1016/j.ejca.2022.01.017. PMID: 35220182
Goldinger SM, Buder-Bakhaya K, Lo SN, Forschner A, McKean M, Zimmer L, Khoo C, Dummer R, Eroglu Z, Buchbinder EI, Ascierto PA, Gutzmer R, Rozeman EA, Hoeller C, Johnson DB, Gesierich A, Kölblinger P, Bennannoune N, Cohen JV, Kähler KC, Wilson MA, Cebon J, Atkinson V, Smith JL, Michielin O, Long GV, Hassel JC, Weide B, Haydu LE, Schadendorf D, McArthur G, Ott PA, Blank C, Robert C, Sullivan R, Hauschild A, Carlino MS, Garbe C, Davies MA, Menzies AM
Eur J Cancer 2022 Feb;162:22-33. Epub 2021 Dec 21 doi: 10.1016/j.ejca.2021.11.022. PMID: 34952480

Recent systematic reviews

Stålhammar G, Gill VT
Crit Rev Oncol Hematol 2022 Apr;172:103652. Epub 2022 Mar 15 doi: 10.1016/j.critrevonc.2022.103652. PMID: 35304261
Cho KK, Cust AE, Foo YM, Long GV, Menzies AM, Eslick GD
Melanoma Res 2021 Oct 1;31(5):482-486. doi: 10.1097/CMR.0000000000000764. PMID: 34433196
Hanna S, Lo SN, Saw RP
Eur J Surg Oncol 2021 Jul;47(7):1558-1574. Epub 2021 Mar 3 doi: 10.1016/j.ejso.2021.02.025. PMID: 33722422
Williams GJ, Webster AC, Thompson JF
Clin Transplant 2021 Jun;35(6):e14287. Epub 2021 Apr 7 doi: 10.1111/ctr.14287. PMID: 33720403
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

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