Details of Disease

Disease Name

Melanocytic nevus

melanotic Nevus; melanocytic Nevus; mole of skin; mole; nevus

Definition

A neoplasm composed of melanocytes that usually appears as a dark spot on the skin.

Disease Hierarchy

DISDUXAD: Benign neoplasm

DISO91PH: Melanocytic skin neoplasm

DISK72C0: Benign neoplasm of skin

DISYS32D: Melanocytic nevus

Disease Identifiers

MONDO ID

MONDO_0005073

MESH ID

D009508

UMLS CUI

C0027962

MedGen ID

14364

HPO ID

HP:0000995

SNOMED CT ID

400096001

General Information of Disease (ID: DISYS32D)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 24 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ATP2A2	TTE6THL	Limited	Genetic Variation	[1]
BIRC7	TTHZ8TA	Limited	Altered Expression	[2]
DNM1	TTE3JW9	Limited	Biomarker	[3]
DUSP3	TTIFAYS	Limited	Biomarker	[4]
FGFR3	TTST7KB	Limited	Genetic Variation	[5]
MAGEA1	TT63M7Q	Limited	Altered Expression	[6]
RAF1	TTAN5W2	Limited	Genetic Variation	[7]
PTAFR	TTQL5VC	Disputed	Biomarker	[8]
PLP2	TTK5OG6	moderate	Altered Expression	[9]
PRAME	TTPH7T0	moderate	Biomarker	[10]
TYR	TTULVH8	moderate	Altered Expression	[11]
CASP6	TTKW4ML	Strong	Biomarker	[12]
CSE1L	TTTRULD	Strong	Biomarker	[13]
GNAQ	TTL1SRG	Strong	Biomarker	[14]
KDM5B	TTCLI75	Strong	Genetic Variation	[15]
MC1R	TT0MV2T	Strong	Genetic Variation	[16]
MCAM	TTHRE05	Strong	Biomarker	[17]
METAP2	TTZL0OI	Strong	Altered Expression	[18]
MLANA	TT362RB	Strong	Biomarker	[19]
MTAP	TTDBX7N	Strong	Genetic Variation	[20]
MYB	TT8V13P	Strong	Biomarker	[21]
NGFR	TTEDJN4	Strong	Biomarker	[22]
SHCBP1	TTZ9WGL	Strong	Biomarker	[23]
TRPM1	TTTDAI9	Strong	Altered Expression	[24]
------------------------------------------------------------------------------------


⏷ Show the Full List of 24 DTT(s)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
GALK1	DE3OP9S	Limited	Altered Expression	[25]
------------------------------------------------------------------------------------

This Disease Is Related to 46 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AMN	OTS1TJXG	Limited	Biomarker	[26]
CARD8	OTXXZYWU	Limited	Altered Expression	[27]
CITED1	OTUJQ3VL	Limited	Biomarker	[28]
DPH3	OT59Q6C4	Limited	Genetic Variation	[29]
ESPN	OT7Z6LX2	Limited	Biomarker	[30]
HCCS	OTQE88BE	Limited	Biomarker	[31]
IFNA17	OTHXRYG3	Limited	Biomarker	[32]
MAGED4B	OTO37U7W	Limited	Altered Expression	[6]
MCM3AP	OT895FEC	Limited	Altered Expression	[33]
NID1	OTKLBLS6	Limited	Genetic Variation	[34]
PAX9	OT25J0F7	Limited	Altered Expression	[35]
PHLDA1	OTFTWMIQ	Limited	Altered Expression	[36]
RBX1	OTYA1UIO	Limited	Altered Expression	[37]
RHCE	OTS18IZ5	Limited	Genetic Variation	[38]
SASS6	OT1V8H40	Limited	Biomarker	[7]
TSPAN8	OT1F68WQ	Limited	Altered Expression	[39]
NF1	OTC29NHH	Disputed	Biomarker	[40]
NOP14	OTKPM0Z5	Disputed	Altered Expression	[41]
NSDHL	OTK3EJFD	Disputed	Genetic Variation	[42]
SLAMF9	OTH1OGZW	Disputed	Altered Expression	[43]
SUZ12	OT655XF8	Disputed	Biomarker	[40]
ERCC2	OT1C8HQ4	moderate	Genetic Variation	[44]
PTCH1	OTMG07H5	moderate	Genetic Variation	[45]
BCAR1	OTKT2C2N	Strong	Biomarker	[13]
CTNNBIP1	OTX9SBJG	Strong	Altered Expression	[46]
CTNND1	OTUMPSHR	Strong	Biomarker	[13]
EIF2S1	OTM0GDTP	Strong	Altered Expression	[47]
HSDL1	OTPDMCC4	Strong	Genetic Variation	[48]
KHDC3L	OTJ7M1OH	Strong	Genetic Variation	[49]
KIF20A	OTXOQHE0	Strong	Altered Expression	[50]
LRIT1	OTNEQPMZ	Strong	Biomarker	[23]
MAP2	OT6UYT3X	Strong	Altered Expression	[51]
MITF	OT6XJCZH	Strong	Genetic Variation	[52]
NLRP7	OTE9BI32	Strong	Genetic Variation	[49]
NRF1	OTOXWNV8	Strong	Altered Expression	[53]
PAX3	OTN5PJZV	Strong	Biomarker	[54]
PLA2G6	OT5FL0WU	Strong	Biomarker	[55]
PLXND1	OTNK9ALK	Strong	Altered Expression	[56]
RIT1	OTVNOGOH	Strong	Altered Expression	[37]
RREB1	OT62460U	Strong	Biomarker	[21]
SHOX	OTE0YZJO	Strong	Altered Expression	[57]
CKS1B	OTNUPLUJ	Definitive	Biomarker	[58]
COIL	OTP4I4DL	Definitive	Biomarker	[59]
IRF4	OT1DHQ1P	Definitive	Genetic Variation	[60]
RTL1	OTOT33IM	Definitive	Biomarker	[61]
SLURP1	OT89YD2E	Definitive	Altered Expression	[62]
------------------------------------------------------------------------------------


⏷ Show the Full List of 46 DOT(s)

References

1	Mosaicism for ATP2A2 mutations causes segmental Darier's disease.J Invest Dermatol. 2000 Dec;115(6):1144-7. doi: 10.1046/j.1523-1747.2000.00182.x.
2	Melanoma inhibitor of apoptosis protein is expressed differentially in melanoma and melanocytic naevus, but similarly in primary and metastatic melanomas.J Clin Pathol. 2005 Oct;58(10):1081-5. doi: 10.1136/jcp.2005.025817.
3	Nevus-associated melanoma: An observational retrospective study of 22 patients evaluated with dermoscopy and reflectance confocal microscopy.Skin Res Technol. 2020 Jan;26(1):99-104. doi: 10.1111/srt.12770. Epub 2019 Sep 25.
4	Discrimination of Dysplastic Nevi from Common Melanocytic Nevi by Cellular andMolecular Criteria.J Invest Dermatol. 2016 Oct;136(10):2030-2040. doi: 10.1016/j.jid.2015.11.035. Epub 2016 Jul 1.
5	Mosaic-activating FGFR2 mutation in two fetuses with papillomatous pedunculated sebaceous naevus.Br J Dermatol. 2017 Jan;176(1):204-208. doi: 10.1111/bjd.14681. Epub 2016 Oct 2.
6	Melanoma antigen-encoding gene expression in melanocytic naevi and cutaneous malignant melanomas.Br J Dermatol. 1999 Jan;140(1):106-8. doi: 10.1046/j.1365-2133.1999.02616.x.
7	Malignant melanoma withareas ofrhabdomyosarcomatousdifferentiation arising in a giant congenital nevus with RAF1 gene fusion.Pigment Cell Melanoma Res. 2019 Sep;32(5):708-713. doi: 10.1111/pcmr.12785. Epub 2019 Apr 21.
8	Systemic Platelet-Activating Factor-Receptor Agonism Enhances Non-Melanoma Skin Cancer Growth.Int J Mol Sci. 2018 Oct 11;19(10):3109. doi: 10.3390/ijms19103109.
9	Loss of MiR-664 Expression Enhances Cutaneous Malignant Melanoma Proliferation by Upregulating PLP2.Medicine (Baltimore). 2015 Aug;94(33):e1327. doi: 10.1097/MD.0000000000001327.
10	Immunohistochemistry for PRAME in the Distinction of Nodal Nevi From Metastatic Melanoma.Am J Surg Pathol. 2020 Apr;44(4):503-508. doi: 10.1097/PAS.0000000000001393.
11	Tyrosinase and nestin immunohistochemical expression in melanocytic nevi as a histopathologic pattern to trace melanocyte differentiation and nevogenesis.Histochem Cell Biol. 2019 Feb;151(2):175-185. doi: 10.1007/s00418-018-1730-5. Epub 2018 Sep 19.
12	Expression of AP-2alpha, c-kit, and cleaved caspase-6 and -3 in naevi and malignant melanomas of the skin. A possible role for caspases in melanoma progression?.J Pathol. 2003 Oct;201(2):278-87. doi: 10.1002/path.1424.
13	How can one explain aneuploidy status in fibromatous and lipomatous naevus cell naevus?.Anticancer Res. 1999 Mar-Apr;19(2A):1193-6.
14	BRAF, NRAS, and GNAQ Mutations in Conjunctival Melanocytic Nevi.Invest Ophthalmol Vis Sci. 2018 Jan 1;59(1):117-121. doi: 10.1167/iovs.17-22517.
15	Altered Splicing of JARID1B in Development of Human Cutaneous Melanoma?.Appl Immunohistochem Mol Morphol. 2016 Mar;24(3):188-92. doi: 10.1097/PAI.0000000000000170.
16	High naevus count and MC1R red hair alleles contribute synergistically to increased melanoma risk.Br J Dermatol. 2019 Nov;181(5):1009-1016. doi: 10.1111/bjd.17833. Epub 2019 Jul 17.
17	PAX3 expression in normal skin melanocytes and melanocytic lesions (naevi and melanomas).PLoS One. 2010 Apr 22;5(4):e9977. doi: 10.1371/journal.pone.0009977.
18	Expression of microtubule-associated protein 2 in benign and malignant melanocytes: implications for differentiation and progression of cutaneous melanoma.Am J Pathol. 2001 Jun;158(6):2107-15. doi: 10.1016/S0002-9440(10)64682-2.
19	Diagnostic utility of dual 5-hydroxymethylcytosine/Melan-A immunohistochemistry in differentiating nodal nevus from metastatic melanoma: An effective first-line test for the workup of sentinel lymph node specimen.J Cutan Pathol. 2019 Apr;46(4):261-266. doi: 10.1111/cup.13412. Epub 2019 Jan 31.
20	Polymorphisms in nevus-associated genes MTAP, PLA2G6, and IRF4 and the risk of invasive cutaneous melanoma.Twin Res Hum Genet. 2011 Oct;14(5):422-32. doi: 10.1375/twin.14.5.422.
21	Presence of cytogenetic abnormalities in Spitz naevi: a diagnostic challenge for fluorescence in-situ hybridization analysis.Histopathology. 2012 Jan;60(2):336-46. doi: 10.1111/j.1365-2559.2011.04087.x.
22	Harnessing autophagy to overcome mitogen-activated protein kinase kinase inhibitor-induced resistance in metastatic melanoma. Br J Dermatol. 2019 Feb;180(2):346-356. doi: 10.1111/bjd.17333. Epub 2018 Nov 25.
23	Monoclonal antibodies selected to discriminate between malignant melanomas and nevocellular nevi.J Invest Dermatol. 1985 Jul;85(1):4-8. doi: 10.1111/1523-1747.ep12274479.
24	TRPM1 (melastatin) expression is an independent predictor of overall survival in clinical AJCC stage I and II melanoma patients.J Cutan Pathol. 2017 Apr;44(4):328-337. doi: 10.1111/cup.12872. Epub 2017 Jan 26.
25	Galactokinase deficiency induced cataracts in Indian infants: identification of 4 novel mutations in GALK gene.Curr Eye Res. 2012 Oct;37(10):949-54. doi: 10.3109/02713683.2012.688162. Epub 2012 May 25.
26	Expression profiles of melanogenesis-related genes and proteins in acquired melanocytic nevus.J Cutan Pathol. 2006 Mar;33(3):207-15. doi: 10.1111/j.0303-6987.2006.00479.x.
27	Genotyping and differential expression analysis of inflammasome genes in sporadic malignant melanoma reveal novel contribution of CARD8, IL1B and IL18 in melanoma susceptibility and progression.Cancer Genet. 2016 Oct;209(10):474-480. doi: 10.1016/j.cancergen.2016.09.004. Epub 2016 Sep 16.
28	Regulation of expression of MSG1 melanocyte-specific nuclear protein in human melanocytes and melanoma cells.Exp Cell Res. 1998 Aug 1;242(2):478-86. doi: 10.1006/excr.1998.4123.
29	Frequent DPH3 promoter mutations in skin cancers.Oncotarget. 2015 Nov 3;6(34):35922-30. doi: 10.18632/oncotarget.5771.
30	Actin-binding protein, Espin: a novel metastatic regulator for melanoma.Mol Cancer Res. 2014 Mar;12(3):440-6. doi: 10.1158/1541-7786.MCR-13-0468-T. Epub 2013 Dec 13.
31	Isolation by flow cytometry of a human ovarian tumor cell subpopulation exhibiting a high glutathione content phenotype and increased resistance to adriamycin.Int J Radiat Oncol Biol Phys. 1989 May;16(5):1315-9. doi: 10.1016/0360-3016(89)90306-4.
32	Melanoma ex naevo: a study of the associated naevus.Melanoma Res. 2003 Apr;13(2):213-7. doi: 10.1097/01.cmr.0000056226.78713.99.
33	Increased expression of germinal center-associated nuclear protein (GANP) is associated with malignant transformation of melanocytes.J Dermatol Sci. 2006 Apr;42(1):55-63. doi: 10.1016/j.jdermsci.2005.12.007. Epub 2006 Jan 23.
34	Higher Nevus Count Exhibits a Distinct DNA Methylation Signature in Healthy Human Skin: Implications for Melanoma.J Invest Dermatol. 2017 Apr;137(4):910-920. doi: 10.1016/j.jid.2016.11.029. Epub 2016 Dec 18.
35	PAX4 has the potential to function as a tumor suppressor in human melanoma.Int J Oncol. 2008 Nov;33(5):1065-71.
36	Identification of the human PHLDA1/TDAG51 gene: down-regulation in metastatic melanoma contributes to apoptosis resistance and growth deregulation.Cancer Res. 2002 Oct 15;62(20):5920-9.
37	Role of ROC1 protein in the control of cyclin D1 protein expression in skin melanomas.Pathol Res Pract. 2011 Mar 15;207(3):174-81. doi: 10.1016/j.prp.2011.01.001.
38	Melanocortin-1 receptor (MC1R) gene variants and dysplastic nevi modify penetrance of CDKN2A mutations in French melanoma-prone pedigrees.Cancer Epidemiol Biomarkers Prev. 2005 Oct;14(10):2384-90. doi: 10.1158/1055-9965.EPI-04-0777.
39	Tspan8--catenin positive feedback loop promotes melanoma invasion.Oncogene. 2019 May;38(20):3781-3793. doi: 10.1038/s41388-019-0691-z. Epub 2019 Jan 24.
40	PRC2 loss amplifies Ras-driven transcription and confers sensitivity to BRD4-based therapies. Nature. 2014 Oct 9;514(7521):247-51.
41	NOP14 inhibits melanoma proliferation and metastasis by regulating Wnt/-catenin signaling pathway.Braz J Med Biol Res. 2018 Nov 23;52(1):e7952. doi: 10.1590/1414-431X20187952.
42	Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome. Am J Med Genet. 2000 Feb 14;90(4):339-46.
43	The novel immunoglobulin super family receptor SLAMF9 identified in TAM of murine and human melanoma influences pro-inflammatory cytokine secretion and migration.Cell Death Dis. 2018 Sep 19;9(10):939. doi: 10.1038/s41419-018-1011-1.
44	XPD gene polymorphism and host characteristics in the association with cutaneous malignant melanoma risk.Br J Cancer. 2004 Jan 26;90(2):497-502. doi: 10.1038/sj.bjc.6601385.
45	The sebaceous nevus: a nevus with deletions of the PTCH gene.Cancer Res. 1999 Apr 15;59(8):1834-6.
46	Molecular genetic analysis of malignant melanomas for aberrations of the WNT signaling pathway genes CTNNB1, APC, ICAT and BTRC.Int J Cancer. 2002 Aug 10;100(5):549-56. doi: 10.1002/ijc.10512.
47	Expression of translation initiation factor eIF-2alpha is increased in benign and malignant melanocytic and colonic epithelial neoplasms.Cancer. 2003 Sep 1;98(5):1080-8. doi: 10.1002/cncr.11619.
48	CHILD syndrome: A modified pathogenesis-targeted therapeutic approach.Am J Med Genet A. 2018 Mar;176(3):733-738. doi: 10.1002/ajmg.a.38619. Epub 2018 Feb 2.
49	NLRP7 and KHDC3L variants in Chinese patients with recurrent hydatidiform moles.Jpn J Clin Oncol. 2019 Jul 1;49(7):620-627. doi: 10.1093/jjco/hyz036.
50	Kinesin family member 20A is a novel melanoma-associated antigen.Acta Derm Venereol. 2012 Nov;92(6):593-7. doi: 10.2340/00015555-1416.
51	Increased expression of MAP2 inhibits melanoma cell proliferation, invasion and tumor growth in vitro and in vivo.Exp Dermatol. 2010 Nov;19(11):958-64. doi: 10.1111/j.1600-0625.2009.01020.x.
52	Deciphering the Role of Oncogenic MITFE318K in Senescence Delay and Melanoma Progression.J Natl Cancer Inst. 2017 Aug 1;109(8). doi: 10.1093/jnci/djw340.
53	NRF1 and NRF2 mRNA and Protein Expression Decrease Early during Melanoma Carcinogenesis: An Insight into Survival and MicroRNAs.Oxid Med Cell Longev. 2019 Sep 4;2019:2647068. doi: 10.1155/2019/2647068. eCollection 2019.
54	Evaluation of PAX3 genetic variants and nevus number.Pigment Cell Melanoma Res. 2013 Sep;26(5):666-76. doi: 10.1111/pcmr.12130. Epub 2013 Jul 4.
55	Body site-specific genetic effects influence naevus count distribution in women.Pigment Cell Melanoma Res. 2020 Mar;33(2):326-333. doi: 10.1111/pcmr.12820. Epub 2019 Aug 25.
56	Semaphorin 3E expression correlates inversely with Plexin D1 during tumor progression.Am J Pathol. 2008 Dec;173(6):1873-81. doi: 10.2353/ajpath.2008.080136. Epub 2008 Oct 30.
57	Turner syndrome and Xp deletions: clinical and molecular studies in 47 patients.J Clin Endocrinol Metab. 2001 Nov;86(11):5498-508. doi: 10.1210/jcem.86.11.8058.
58	CKS1 expression in melanocytic nevi and melanoma.Oncotarget. 2017 Dec 23;9(3):4173-4187. doi: 10.18632/oncotarget.23648. eCollection 2018 Jan 9.
59	FT-IR Spectroscopy Study in Early Diagnosis of Skin Cancer.In Vivo. 2017 Nov-Dec;31(6):1131-1137. doi: 10.21873/invivo.11179.
60	Genetic variation in IRF4 expression modulates growth characteristics, tyrosinase expression and interferon-gamma response in melanocytic cells.Pigment Cell Melanoma Res. 2018 Jan;31(1):51-63. doi: 10.1111/pcmr.12620. Epub 2017 Oct 23.
61	Immunohistochemical CD271 expression correlates with melanoma progress in a case-control study.Pathology. 2018 Jun;50(4):402-410. doi: 10.1016/j.pathol.2017.12.340. Epub 2018 Apr 17.
62	SLURP-1 is mutated in Mal de Meleda, a potential molecular signature for melanoma and a putative squamous lineage tumor suppressor gene.Int J Dermatol. 2018 Feb;57(2):162-170. doi: 10.1111/ijd.13850. Epub 2017 Dec 12.