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Melanoma, cutaneous malignant, susceptibility to, 1(CMM1)

MedGen UID:
320506
Concept ID:
C1835047
Finding
Synonyms: B-K MOLE SYNDROME; CMM1; Cutaneous malignant melanoma 1; DYSPLASTIC NEVUS SYNDROME, HEREDITARY; FAMILIAL ATYPICAL MOLE-MALIGNANT MELANOMA SYNDROME; MELANOMA, MALIGNANT
 
Genes (locations): BRAF (7q34); STK11 (19p13.3)
 
Monarch Initiative: MONDO:0007963
OMIM®: 155600

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). Genetic Heterogeneity of Susceptibility to Cutaneous Malignant Melanoma The locus for susceptibility to familial cutaneous malignant melanoma-1 (CMM1) has been mapped to chromosome 1p36. Other CMM susceptibility loci include CMM2 (155601), caused by variation in the CDKN2A gene (600160) on chromosome 9p21; CMM3 (609048), caused by variation in the CDK4 gene (123829) on chromosome 12q14; CMM4 (608035), mapped to chromosome 1p22; CMM5 (613099), caused by variation in the MC1R gene (155555) on chromosome 16q24; CMM6 (613972), caused by variation in the XRCC3 gene (600675) on chromosome 14q32; CMM7 (612263), mapped to chromosome 20q11; CMM8 (614456), caused by variation in the MITF gene (156845) on chromosome 3p13; CMM9 (615134), caused by variation in the TERT gene (187270) on chromosome 5p15; and CMM10 (615848), caused by mutation in the POT1 gene (606478) on chromosome 7q31. Somatic mutations causing malignant melanoma have also been identified in several genes, including BRAF (164757), STK11 (602216), PTEN (601728), TRRAP (603015), DCC (120470), GRIN2A (138253), ZNF831, BAP1 (603089), and RASA2 (601589). A large percentage of melanomas (40-60%) carry an activating somatic mutation in the BRAF gene, most often V600E (164757.0001) (Davies et al., 2002; Pollock et al., 2003). [from OMIM]

Clinical features

From HPO
Malignant melanoma of skin
MedGen UID:
57486
Concept ID:
C0151779
Neoplastic Process
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).\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\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 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.
Atypical nevus
MedGen UID:
60020
Concept ID:
C0205748
Neoplastic Process
A large pigmented lesion measuring 5-15 mm in diameter with irregular, notched, and ill defined border and with color that may range from tan to dark brown to pink.
Numerous nevi
MedGen UID:
341508
Concept ID:
C1849677
Finding
Atypical nevi in non-sun exposed areas
MedGen UID:
867460
Concept ID:
C4021837
Finding
Uveal melanoma
MedGen UID:
65077
Concept ID:
C0220633
Neoplastic Process
Uveal melanoma is a highly malignant tumor that arises from the choroid or the ciliary body of the eye. It is the most common primary ocular malignancy in adults, although it has a low incidence (6 cases per 1,000,000 per year). A tendency for hematogenic spread to the liver accounts for up to 50% of patient deaths (summary by Lopez et al., 2007).
Abnormality of the eye
MedGen UID:
1370071
Concept ID:
C4316870
Anatomical Abnormality
Any abnormality of the eye, including location, spacing, and intraocular abnormalities.

Term Hierarchy

Professional guidelines

PubMed

Primiero CA, Maas EJ, Wallingford CK, Soyer HP, McInerney-Leo AM
Ital J Dermatol Venerol 2024 Feb;159(1):34-42. Epub 2024 Jan 29 doi: 10.23736/S2784-8671.23.07761-7. PMID: 38287743
Hartman RI, Lin JY
Hematol Oncol Clin North Am 2019 Feb;33(1):25-38. doi: 10.1016/j.hoc.2018.09.005. PMID: 30497675
Gabree M, Seidel M
Cancer J 2012 Jul-Aug;18(4):372-80. doi: 10.1097/PPO.0b013e3182624664. PMID: 22846740

Recent clinical studies

Etiology

Nagel MB, Perrino MR, Nuccio R, Blake AK, Harrison L, Nichols KE, Pappo AS
Pediatr Blood Cancer 2023 Jul;70(7):e30361. Epub 2023 Apr 19 doi: 10.1002/pbc.30361. PMID: 37073685
Louie BH, Kurzrock R
Cancer Treat Rev 2020 Nov;90:102091. Epub 2020 Aug 20 doi: 10.1016/j.ctrv.2020.102091. PMID: 32877777Free PMC Article
Natarajan E
Head Neck Pathol 2019 Mar;13(1):56-70. Epub 2019 Jan 29 doi: 10.1007/s12105-019-01008-2. PMID: 30693458Free PMC Article
Hartman RI, Lin JY
Hematol Oncol Clin North Am 2019 Feb;33(1):25-38. doi: 10.1016/j.hoc.2018.09.005. PMID: 30497675
Inzelberg R, Flash S, Friedman E, Azizi E
Ann Neurol 2016 Dec;80(6):811-820. Epub 2016 Nov 14 doi: 10.1002/ana.24802. PMID: 27761938

Diagnosis

Nagel MB, Perrino MR, Nuccio R, Blake AK, Harrison L, Nichols KE, Pappo AS
Pediatr Blood Cancer 2023 Jul;70(7):e30361. Epub 2023 Apr 19 doi: 10.1002/pbc.30361. PMID: 37073685
Natarajan E
Head Neck Pathol 2019 Mar;13(1):56-70. Epub 2019 Jan 29 doi: 10.1007/s12105-019-01008-2. PMID: 30693458Free PMC Article
Hartman RI, Lin JY
Hematol Oncol Clin North Am 2019 Feb;33(1):25-38. doi: 10.1016/j.hoc.2018.09.005. PMID: 30497675
Goldstein AM, Stidd KC, Yang XR, Fraser MC, Tucker MA
Cancer 2018 Sep 15;124(18):3715-3723. Epub 2018 Sep 12 doi: 10.1002/cncr.31641. PMID: 30207590Free PMC Article
Gabree M, Seidel M
Cancer J 2012 Jul-Aug;18(4):372-80. doi: 10.1097/PPO.0b013e3182624664. PMID: 22846740

Therapy

Zhang Y, Lan S, Wu D
Curr Treat Options Oncol 2022 Oct;23(10):1405-1427. Epub 2022 Sep 20 doi: 10.1007/s11864-022-01007-6. PMID: 36125617Free PMC Article
Goldstein AM, Stidd KC, Yang XR, Fraser MC, Tucker MA
Cancer 2018 Sep 15;124(18):3715-3723. Epub 2018 Sep 12 doi: 10.1002/cncr.31641. PMID: 30207590Free PMC Article
Herraiz C, Jiménez-Cervantes C, Sánchez-Laorden B, García-Borrón JC
Semin Cell Dev Biol 2018 Jun;78:73-84. Epub 2017 Jul 1 doi: 10.1016/j.semcdb.2017.06.021. PMID: 28676423
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Nikolaou V, Stratigos AJ
Br J Dermatol 2014 Jan;170(1):11-9. doi: 10.1111/bjd.12492. PMID: 23815297

Prognosis

Long E, Yin J, Funderburk KM, Xu M, Feng J, Kane A, Zhang T, Myers T, Golden A, Thakur R, Kong H, Jessop L, Kim EY, Jones K, Chari R, Machiela MJ, Yu K; Melanoma Meta-Analysis Consortium, Iles MM, Landi MT, Law MH, Chanock SJ, Brown KM, Choi J
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Hartman RI, Lin JY
Hematol Oncol Clin North Am 2019 Feb;33(1):25-38. doi: 10.1016/j.hoc.2018.09.005. PMID: 30497675
Vogelsang M, Wilson M, Kirchhoff T
Pigment Cell Melanoma Res 2016 Jan;29(1):15-26. Epub 2015 Nov 3 doi: 10.1111/pcmr.12418. PMID: 26342156Free PMC Article
Nikolaou V, Stratigos AJ
Br J Dermatol 2014 Jan;170(1):11-9. doi: 10.1111/bjd.12492. PMID: 23815297
Berwick M, Wiggins C
Front Biosci 2006 May 1;11:1244-54. doi: 10.2741/1877. PMID: 16368510

Clinical prediction guides

Long E, Yin J, Funderburk KM, Xu M, Feng J, Kane A, Zhang T, Myers T, Golden A, Thakur R, Kong H, Jessop L, Kim EY, Jones K, Chari R, Machiela MJ, Yu K; Melanoma Meta-Analysis Consortium, Iles MM, Landi MT, Law MH, Chanock SJ, Brown KM, Choi J
Am J Hum Genet 2022 Dec 1;109(12):2210-2229. Epub 2022 Nov 23 doi: 10.1016/j.ajhg.2022.11.006. PMID: 36423637Free PMC Article
Carbone ML, Lacal PM, Messinese S, De Giglio L, Pozzilli C, Persechino S, Mazzanti C, Failla CM, Pagnanelli G
Int J Mol Sci 2020 Apr 22;21(8) doi: 10.3390/ijms21082950. PMID: 32331328Free PMC Article
Goldstein AM, Stidd KC, Yang XR, Fraser MC, Tucker MA
Cancer 2018 Sep 15;124(18):3715-3723. Epub 2018 Sep 12 doi: 10.1002/cncr.31641. PMID: 30207590Free PMC Article
Vogelsang M, Wilson M, Kirchhoff T
Pigment Cell Melanoma Res 2016 Jan;29(1):15-26. Epub 2015 Nov 3 doi: 10.1111/pcmr.12418. PMID: 26342156Free PMC Article
Nikolaou V, Stratigos AJ
Br J Dermatol 2014 Jan;170(1):11-9. doi: 10.1111/bjd.12492. PMID: 23815297

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
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Mohammadreza Niktabar S, Alireza Dastgheib S, Heiranizadeh N, Kargar S, Raee-Ezzabadi A, Jarahzadeh MH, Mohsen Miresmaeili S, Zare-Shehneh M, Neamatzadeh H
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Kim SY, Kim SN, Hahn HJ, Lee YW, Choe YB, Ahn KJ
J Am Acad Dermatol 2015 Jun;72(6):1036-46.e2. Epub 2015 Mar 25 doi: 10.1016/j.jaad.2015.02.1113. PMID: 25819940
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