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Cutaneous malignant melanoma 1(CMM1)

MedGen UID:
320506
Concept ID:
C1835047
Finding
Synonyms: B-K MOLE SYNDROME; CMM1; DYSPLASTIC NEVUS SYNDROME, HEREDITARY; FAMILIAL ATYPICAL MOLE-MALIGNANT MELANOMA SYNDROME; MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1; MELANOMA, MALIGNANT
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
 
Gene: PTEN
Cytogenetic locations: 10q23.31; 1p36
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 Other familial cutaneous malignant melanoma 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 3p14-p12; 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, and BAP1 (603089). 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

Intraocular melanoma
MedGen UID:
429147
Concept ID:
CN006767
Finding
A malignant melanoma originating within the eye. The tumor originates from the melanocytes in the uvea (which comprises the iris, ciliary body, and choroid).
Cutaneous melanoma
MedGen UID:
506658
Concept ID:
CN167782
Finding
The presence of a `melanoma` (MPATH:359) of the `skin` (FMA:7163).
Abnormality of the eye
MedGen UID:
446358
Concept ID:
CN000446
Finding
Any abnormality of the `eye` (FMA:54448), including location, spacing, and intraocular abnormalities.
Intraocular melanoma
MedGen UID:
429147
Concept ID:
CN006767
Finding
A malignant melanoma originating within the eye. The tumor originates from the melanocytes in the uvea (which comprises the iris, ciliary body, and choroid).
Cutaneous melanoma
MedGen UID:
506658
Concept ID:
CN167782
Finding
The presence of a `melanoma` (MPATH:359) of the `skin` (FMA:7163).

Recent clinical studies

Etiology

Eriksson H, Lyth J, Månsson-Brahme E, Frohm-Nilsson M, Ingvar C, Lindholm C, Naredi P, Stierner U, Carstensen J, Hansson J
J Clin Oncol 2014 May 1;32(13):1356-64. Epub 2014 Mar 31 doi: 10.1200/JCO.2013.52.7564. [Epub ahead of print] PMID: 24687828
Shi J, Yang XR, Ballew B, Rotunno M, Calista D, Fargnoli MC, Ghiorzo P, Bressac-de Paillerets B, Nagore E, Avril MF, Caporaso NE, McMaster ML, Cullen M, Wang Z, Zhang X; NCI DCEG Cancer Sequencing Working Group; NCI DCEG Cancer Genomics Research Laboratory; French Familial Melanoma Study Group, Bruno W, Pastorino L, Queirolo P, Banuls-Roca J, Garcia-Casado Z, Vaysse A, Mohamdi H, Riazalhosseini Y, Foglio M, Jouenne F, Hua X, Hyland PL, Yin J, Vallabhaneni H, Chai W, Minghetti P, Pellegrini C, Ravichandran S, Eggermont A, Lathrop M, Peris K, Scarra GB, Landi G, Savage SA, Sampson JN, He J, Yeager M, Goldin LR, Demenais F, Chanock SJ, Tucker MA, Goldstein AM, Liu Y, Landi MT
Nat Genet 2014 May;46(5):482-6. Epub 2014 Mar 30 doi: 10.1038/ng.2941. [Epub ahead of print] PMID: 24686846Free PMC Article
Eriksson H, Lyth J, Månsson-Brahme E, Frohm-Nilsson M, Ingvar C, Lindholm C, Naredi P, Stierner U, Wagenius G, Carstensen J, Hansson J
Eur J Cancer 2013 Aug;49(12):2705-16. Epub 2013 Apr 11 doi: 10.1016/j.ejca.2013.03.013. [Epub ahead of print] PMID: 23583439
Robsahm TE, Bergva G, Hestvik UE, Møller B
Melanoma Res 2013 Feb;23(1):70-8. doi: 10.1097/CMR.0b013e32835c7e48. PMID: 23222548
Sand M, Skrygan M, Georgas D, Sand D, Gambichler T, Altmeyer P, Bechara FG
Cell Tissue Res 2012 Oct;350(1):119-26. Epub 2012 Jun 17 doi: 10.1007/s00441-012-1446-0. [Epub ahead of print] PMID: 22706980

Diagnosis

Eriksson H, Lyth J, Månsson-Brahme E, Frohm-Nilsson M, Ingvar C, Lindholm C, Naredi P, Stierner U, Carstensen J, Hansson J
J Clin Oncol 2014 May 1;32(13):1356-64. Epub 2014 Mar 31 doi: 10.1200/JCO.2013.52.7564. [Epub ahead of print] PMID: 24687828
van der Leest RJ, van Steenbergen LN, Hollestein LM, de Vries E, Nijsten T, van Akkooi AC, Janssen-Heijnen ML, Coebergh JW
Eur J Cancer 2014 Feb;50(3):602-10. Epub 2013 Nov 18 doi: 10.1016/j.ejca.2013.10.019. [Epub ahead of print] PMID: 24262585
Eriksson H, Lyth J, Månsson-Brahme E, Frohm-Nilsson M, Ingvar C, Lindholm C, Naredi P, Stierner U, Wagenius G, Carstensen J, Hansson J
Eur J Cancer 2013 Aug;49(12):2705-16. Epub 2013 Apr 11 doi: 10.1016/j.ejca.2013.03.013. [Epub ahead of print] PMID: 23583439
Eriksson H, Frohm-Nilsson M, Hedblad MA, Hellborg H, Kanter-Lewensohn L, Krawiec K, Lundh Rozell B, Månsson-Brahme E, Hansson J
Acta Derm Venereol 2013 Jul 6;93(4):411-6. doi: 10.2340/00015555-1517. PMID: 23306667
Robsahm TE, Bergva G, Hestvik UE, Møller B
Melanoma Res 2013 Feb;23(1):70-8. doi: 10.1097/CMR.0b013e32835c7e48. PMID: 23222548

Therapy

Idorn LW, Datta P, Heydenreich J, Philipsen PA, Wulf HC
JAMA Dermatol 2014 Feb;150(2):163-8. doi: 10.1001/jamadermatol.2013.5098. PMID: 24080851
Hatch SB, Swift LP, Caporali S, Carter R, Hill EJ, MacGregor TP, D'Atri S, Middleton MR, McHugh PJ, Sharma RA
Int J Cancer 2014 Mar 15;134(6):1495-503. Epub 2013 Nov 14 doi: 10.1002/ijc.28454. [Epub ahead of print] PMID: 23982883
Luke JJ, Schwartz GK
Clin Dermatol 2013 May-Jun;31(3):290-7. doi: 10.1016/j.clindermatol.2012.08.016. PMID: 23608448Free PMC Article
Beger J, Hansel G, Krönert C, Fuchs M, Tanner C, Schönlebe J, Werner C, Nowak A, Haroske G, Witzigmann H, Wollina U
Int J Dermatol 2013 Feb;52(2):220-30. doi: 10.1111/j.1365-4632.2012.05706.x. PMID: 23347311
Robsahm TE, Bergva G, Hestvik UE, Møller B
Melanoma Res 2013 Feb;23(1):70-8. doi: 10.1097/CMR.0b013e32835c7e48. PMID: 23222548

Prognosis

Eriksson H, Lyth J, Månsson-Brahme E, Frohm-Nilsson M, Ingvar C, Lindholm C, Naredi P, Stierner U, Carstensen J, Hansson J
J Clin Oncol 2014 May 1;32(13):1356-64. Epub 2014 Mar 31 doi: 10.1200/JCO.2013.52.7564. [Epub ahead of print] PMID: 24687828
van der Leest RJ, van Steenbergen LN, Hollestein LM, de Vries E, Nijsten T, van Akkooi AC, Janssen-Heijnen ML, Coebergh JW
Eur J Cancer 2014 Feb;50(3):602-10. Epub 2013 Nov 18 doi: 10.1016/j.ejca.2013.10.019. [Epub ahead of print] PMID: 24262585
Eriksson H, Lyth J, Månsson-Brahme E, Frohm-Nilsson M, Ingvar C, Lindholm C, Naredi P, Stierner U, Wagenius G, Carstensen J, Hansson J
Eur J Cancer 2013 Aug;49(12):2705-16. Epub 2013 Apr 11 doi: 10.1016/j.ejca.2013.03.013. [Epub ahead of print] PMID: 23583439
Eriksson H, Frohm-Nilsson M, Hedblad MA, Hellborg H, Kanter-Lewensohn L, Krawiec K, Lundh Rozell B, Månsson-Brahme E, Hansson J
Acta Derm Venereol 2013 Jul 6;93(4):411-6. doi: 10.2340/00015555-1517. PMID: 23306667
Robsahm TE, Bergva G, Hestvik UE, Møller B
Melanoma Res 2013 Feb;23(1):70-8. doi: 10.1097/CMR.0b013e32835c7e48. PMID: 23222548

Clinical prediction guides

Idorn LW, Datta P, Heydenreich J, Philipsen PA, Wulf HC
JAMA Dermatol 2014 Feb;150(2):163-8. doi: 10.1001/jamadermatol.2013.5098. PMID: 24080851
Laresche C, Pelletier F, Garnache-Ottou F, Lihoreau T, Biichlé S, Mourey G, Saas P, Humbert P, Seilles E, Aubin F
J Invest Dermatol 2014 Jan;134(1):176-82. Epub 2013 Jun 28 doi: 10.1038/jid.2013.288. [Epub ahead of print] PMID: 23812302
Burke LS, Hyland PL, Pfeiffer RM, Prescott J, Wheeler W, Mirabello L, Savage SA, Burdette L, Yeager M, Chanock S, De Vivo I, Tucker MA, Goldstein AM, Yang XR
PLoS One 2013;8(8):e71121. Epub 2013 Aug 19 doi: 10.1371/journal.pone.0071121. PMID: 23990928Free PMC Article
Eriksson H, Frohm-Nilsson M, Hedblad MA, Hellborg H, Kanter-Lewensohn L, Krawiec K, Lundh Rozell B, Månsson-Brahme E, Hansson J
Acta Derm Venereol 2013 Jul 6;93(4):411-6. doi: 10.2340/00015555-1517. PMID: 23306667
Robsahm TE, Bergva G, Hestvik UE, Møller B
Melanoma Res 2013 Feb;23(1):70-8. doi: 10.1097/CMR.0b013e32835c7e48. PMID: 23222548

Recent systematic reviews

Zhou L, Lu Y, Yang G, Wu J
Tumour Biol 2014 Feb;35(2):1427-32. Epub 2013 Nov 26 doi: 10.1007/s13277-013-1196-y. [Epub ahead of print] PMID: 24277375
Pflugfelder A, Kochs C, Blum A, Capellaro M, Czeschik C, Dettenborn T, Dill D, Dippel E, Eigentler T, Feyer P, Follmann M, Frerich B, Ganten MK, Gärtner J, Gutzmer R, Hassel J, Hauschild A, Hohenberger P, Hübner J, Kaatz M, Kleeberg UR, Kölbl O, Kortmann RD, Krause-Bergmann A, Kurschat P, Leiter U, Link H, Loquai C, Löser C, Mackensen A, Meier F, Mohr P, Möhrle M, Nashan D, Reske S, Rose C, Sander C, Satzger I, Schiller M, Schlemmer HP, Strittmatter G, Sunderkötter C, Swoboda L, Trefzer U, Voltz R, Vordermark D, Weichenthal M, Werner A, Wesselmann S, Weyergraf AJ, Wick W, Garbe C, Schadendorf D; German Dermatological Society; DermatologicCooperative Oncology Group
J Dtsch Dermatol Ges 2013 Aug;11 Suppl 6:1-116, 1-126. doi: 10.1111/ddg.12113_suppl. PMID: 24028775
Kamposioras K, Pentheroudakis G, Pectasides D, Pavlidis N
Crit Rev Oncol Hematol 2011 May;78(2):112-26. Epub 2010 May 31 doi: 10.1016/j.critrevonc.2010.04.007. [Epub ahead of print] PMID: 20570171
Lazzeri D, Agostini T, Giacomina A, Giannotti G, Colizzi L, De Rosa M, Massei P, Pantaloni M
J Craniofac Surg 2010 Nov;21(6):1957-60. doi: 10.1097/SCS.0b013e3181f4eee6. PMID: 21119468
Savoia P, Fava P, Nardò T, Osella-Abate S, Quaglino P, Bernengo MG
Melanoma Res 2009 Oct;19(5):321-6. doi: 10.1097/CMR.0b013e32832ac775. PMID: 19641475

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