MCID: MLN079
MIFTS: 43

Melanoma in Congenital Melanocytic Nevus

Categories: Cancer diseases, Skin diseases
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Aliases & Classifications for Melanoma in Congenital Melanocytic Nevus

MalaCards integrated aliases for Melanoma in Congenital Melanocytic Nevus:

Name: Melanoma in Congenital Melanocytic Nevus 11 14
Malignant Melanoma in Congenital Melanocytic Nevus 11
Melanocytic Nevi 11
Nevi Melanocytic 53

Classifications:



External Ids:

Disease Ontology 11 DOID:0070327
NCIt 49 C48613
UMLS 71 C1711221

Summaries for Melanoma in Congenital Melanocytic Nevus

Disease Ontology: 11 A skin melanoma that arises from a congenital melanocytic nevus.

MalaCards based summary: Melanoma in Congenital Melanocytic Nevus, also known as malignant melanoma in congenital melanocytic nevus, is related to melanocytic nevus syndrome, congenital and lentigines. An important gene associated with Melanoma in Congenital Melanocytic Nevus is MLANA (Melan-A), and among its related pathways/superpathways are Signal Transduction and Beta-Adrenergic Signaling. The drugs Ethanol and Squaric acid dibutyl ester have been mentioned in the context of this disorder. Affiliated tissues include skin, lymph node and smooth muscle, and related phenotypes are Increased shRNA abundance (Z-score > 2) and no phenotypic analysis

Related Diseases for Melanoma in Congenital Melanocytic Nevus

Diseases related to Melanoma in Congenital Melanocytic Nevus via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 502)
# Related Disease Score Top Affiliating Genes
1 melanocytic nevus syndrome, congenital 32.9 NRAS HRAS
2 lentigines 32.3 TYR RAF1 MC1R BRAF
3 large congenital melanocytic nevus 32.2 NRAS MLANA MITF MC1R HRAS CDKN2A
4 spitz nevus 31.6 HRAS BRAF
5 keratosis 30.8 MC1R HRAS CDKN2A
6 neurofibromatosis 30.8 NRAS HRAS CDKN2A BRAF
7 plexiform neurofibroma 30.7 S100B HRAS CDKN2A
8 vitiligo-associated multiple autoimmune disease susceptibility 1 30.7 TYR PMEL MLANA MITF MC1R
9 conjunctival nevus 30.7 NRAS MLANA HRAS
10 neurofibroma 30.6 TYR S100B S100A1 NGFR MLANA MITF
11 thyroid cancer, nonmedullary, 2 30.6 NRAS HRAS BRAF
12 keratosis, seborrheic 30.6 TYR MLANA MITF MC1R CDKN2A
13 spitzoid melanoma 30.6 NRAS MLANA HRAS CDKN2A
14 histiocytosis 30.5 S100B NRAS BRAF
15 albinism 30.5 TYR MITF HPS1
16 amelanotic melanoma 30.5 TYR S100B NRAS MLANA MITF MC1R
17 neurofibromatosis, type i 30.5 S100B RAF1 NRAS NGFR HRAS CDKN2A
18 ochronosis 30.4 TYR MITF MC1R
19 differentiated thyroid carcinoma 30.4 NRAS HRAS BRAF
20 epidermoid cysts 30.4 S100B S100A6 S100A1
21 skin melanoma 30.4 TYR RAF1 NRAS MLANA MITF MIR21
22 cutaneous ganglioneuroma 30.4 S100A6 MITF HRAS
23 atypical teratoid rhabdoid tumor 30.3 TYR H2AC18 CDKN2A
24 cutaneous fibrous histiocytoma 30.3 S100B S100A1 MLANA MITF
25 neurilemmoma 30.3 TYR S100B S100A1 NGFR MLANA MITF
26 skin benign neoplasm 30.3 TYR MLANA HRAS BRAF
27 malignant spindle cell melanoma 30.3 TYR PMEL NRAS NGFR MLANA MITF
28 leiomyosarcoma 30.3 S100B S100A1 MLANA CDKN2A
29 nodular malignant melanoma 30.3 CDKN2A BRAF TYR PMEL NRAS MLANA
30 melanoma 30.3 TYR S100B S100A6 S100A1 RAF1 PMEL
31 actinic keratosis 30.3 MLANA MC1R H2AC18 CDKN2A
32 malignant peripheral nerve sheath tumor 30.3 S100B S100A6 S100A1 NGFR MITF CDKN2A
33 melanoma, cutaneous malignant 1 30.3 TYR RAF1 PMEL NRAS MLANA MITF
34 acral lentiginous melanoma 30.2 TYR PMEL NRAS MLANA MITF MC1R
35 microphthalmia 30.2 TYR S100B PMEL MLANA MITF MC1R
36 oculocutaneous albinism 30.2 TYR PMEL MITF MC1R HPS1
37 paraganglioma 30.2 S100B MLANA MITF HRAS CDKN2A
38 lynch syndrome 30.2 HRAS H2AC18 CDKN2A BRAF
39 langerhans cell histiocytosis 30.2 S100B S100A1 NRAS HRAS BRAF
40 skin carcinoma 30.1 TYR NRAS MLANA MITF MIR21 MIR199A1
41 sarcoma 30.1 S100B S100A1 RAF1 HRAS BRAF
42 testicular cancer 30.0 TYR PMEL MLANA MIR199A1 KDM4C H2AC18
43 leukemia, chronic myeloid 30.0 RAF1 NRAS MIR199A1 KDM4C HRAS H2AC18
44 breast disease 30.0 MIR21 MIR199A1 KDM4C H2AC18
45 pancreatic ductal adenocarcinoma 29.9 MIR21 MIR199A1 KDM4C HRAS H2AC18
46 hematologic cancer 29.9 MIR21 MIR199A1 KDM4C HRAS H2AC18
47 lymphoma, non-hodgkin, familial 29.9 NRAS MIR21 MIR199A1 KDM4C H2AC18 BRAF
48 wilms tumor 1 29.8 MLANA MIR199A1 KDM4C HRAS H2AC18 CDKN2A
49 skin squamous cell carcinoma 29.8 RAF1 NRAS MIR21 KDM4C HRAS CDKN2A
50 leukemia, acute lymphoblastic 29.8 MIR21 MIR199A1 KDM4C HRAS H2AC18 CDKN2A

Graphical network of the top 20 diseases related to Melanoma in Congenital Melanocytic Nevus:



Diseases related to Melanoma in Congenital Melanocytic Nevus

Symptoms & Phenotypes for Melanoma in Congenital Melanocytic Nevus

GenomeRNAi Phenotypes related to Melanoma in Congenital Melanocytic Nevus according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.44 RAF1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.44 BRAF
3 Increased shRNA abundance (Z-score > 2) GR00366-A-150 9.44 KDM4C RAF1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.44 RAF1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-188 9.44 KDM4C
6 Increased shRNA abundance (Z-score > 2) GR00366-A-209 9.44 KDM4C
7 Increased shRNA abundance (Z-score > 2) GR00366-A-3 9.44 NRAS
8 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.44 BRAF
9 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.44 RAF1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-72 9.44 KDM4C NRAS RAF1

MGI Mouse Phenotypes related to Melanoma in Congenital Melanocytic Nevus:

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 no phenotypic analysis MP:0003012 10.29 CDKN2A HPS1 HRAS KDM4C MC1R MIR199A1
2 homeostasis/metabolism MP:0005376 10.28 BRAF CDKN2A HPS1 HRAS KDM4C MITF
3 normal MP:0002873 10.19 BRAF HRAS MITF MMP14 NGFR NRAS
4 pigmentation MP:0001186 10.18 BRAF CDKN2A HPS1 MC1R MITF MLANA
5 neoplasm MP:0002006 10.11 BRAF CDKN2A HRAS KDM4C MC1R NRAS
6 cellular MP:0005384 10.1 BRAF CDKN2A HPS1 KDM4C MC1R MITF
7 behavior/neurological MP:0005386 10.1 BRAF CDKN2A HRAS MC1R MITF MMP14
8 craniofacial MP:0005382 10.07 BRAF HPS1 HRAS MC1R MITF MMP14
9 limbs/digits/tail MP:0005371 10.06 BRAF HPS1 MC1R MITF MMP14 NGFR
10 hearing/vestibular/ear MP:0005377 10.01 BRAF HPS1 MC1R MITF MMP14 NGFR
11 respiratory system MP:0005388 9.76 BRAF CDKN2A HPS1 HRAS MMP14 NGFR
12 vision/eye MP:0005391 9.65 BRAF CDKN2A HPS1 MITF MMP14 NGFR
13 integument MP:0010771 9.5 BRAF CDKN2A HPS1 HRAS KDM4C MC1R

Drugs & Therapeutics for Melanoma in Congenital Melanocytic Nevus

Drugs for Melanoma in Congenital Melanocytic Nevus (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Early Phase 1 64-17-5 702
2
Squaric acid dibutyl ester Investigational Early Phase 1 2892-62-8
3 Adjuvants, Immunologic Early Phase 1
4 Anti-Infective Agents Early Phase 1
5 Pharmaceutical Solutions Early Phase 1
6 Anti-Infective Agents, Local Early Phase 1
7 Immunologic Factors Early Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Classification and Longitudinal Follow-up of Common Melanocytic Nevi With in Vivo Reflectance Confocal Microscopy Unknown status NCT01194947
2 Dermoscopic Diagnosis, Histopathological Correlation, and Cellular Immortalization of Melanocytic Nevi and Primary Cutaneous Melanoma Completed NCT00288938
3 Total Body Dermoscopic Evaluation of Pregnancy-related Changes in Melanocytic Nevi Using the FotoFinder ATBM Master System and the Impact of Artificial Intelligence Assisted Examinations on the Patients' Skin Cancer Screening Experience: A Prospective Two-arm Controlled Observational Study Completed NCT05148455
4 Family Study of Melanoma in Italy Completed NCT00339222
5 Melanocytic-Nevi-Counts During Chemotherapy of Children With Malignancies. Completed NCT00600431
6 Dermoscopic Monitoring of Pediatric Melanocytic Nevi Regarding Pattern and Diameter Changes Completed NCT05463510
7 Genetic Basis of Melanocytic Nevi Recruiting NCT03054584
8 Prospective Registry of Patients With Neurocutaneous Melanocytosis (NCM) Including Cutaneous and CNS Involvement Recruiting NCT04548817
9 Quality of Life and Experience of Stigmatization in Children With Congenital Melanocytic Nevi Before and After Nevus Excision: a Prospective Study Recruiting NCT02280889
10 Neoadjuvant Squaric Acid Dibutylester Treatment of Melanocytes in Congenital Melanocytic Nevi Not yet recruiting NCT04999631 Early Phase 1 Squaric Acid Dibutyl Ester;Ethanol Solution

Search NIH Clinical Center for Melanoma in Congenital Melanocytic Nevus

Genetic Tests for Melanoma in Congenital Melanocytic Nevus

Anatomical Context for Melanoma in Congenital Melanocytic Nevus

Organs/tissues related to Melanoma in Congenital Melanocytic Nevus:

MalaCards : Skin, Lymph Node, Smooth Muscle, Endothelial, Spinal Cord, T Cells, Breast

Publications for Melanoma in Congenital Melanocytic Nevus

Articles related to Melanoma in Congenital Melanocytic Nevus:

(show top 50) (show all 2261)
# Title Authors PMID Year
1
The correlation of TRPM1 (Melastatin) mRNA expression with microphthalmia-associated transcription factor (MITF) and other melanogenesis-related proteins in normal and pathological skin, hair follicles and melanocytic nevi. 53 62
20482673 2010
2
Molecular pathogenesis of malignant melanoma: a different perspective from the studies of melanocytic nevus and acral melanoma. 53 62
19788535 2010
3
Malignant melanoma--a genetic overview. 53 62
20096196 2009
4
Polyclonality of BRAF mutations in acquired melanocytic nevi. 53 62
19752400 2009
5
Allelotyping, microsatellite instability, and BRAF mutation analyses in common and atypical melanocytic nevi and primary cutaneous melanomas. 53 62
19461239 2009
6
The role of BRAF mutation and p53 inactivation during transformation of a subpopulation of primary human melanocytes. 53 62
19389934 2009
7
Proliferation arrest in B-Raf mutant melanoma cell lines upon MAPK pathway activation. 53 62
18650848 2009
8
Expression of S100A6 protein in a broad spectrum of cutaneous tumors using tissue microarrays. 53 62
18201235 2008
9
G1 cell cycle regulators in congenital melanocytic nevi. Comparison with acquired nevi and melanomas. 53 62
18494826 2008
10
Differential gene expression in melanocytic nevi with the V600E BRAF mutation. 53 62
17696195 2007
11
Chromosomal translocations as a mechanism of BRAF activation in two cases of large congenital melanocytic nevi. 53 62
17301836 2007
12
The significance of Ki-67 proliferative index and cyclin D1 expression of dysplastic nevi in the biologic spectrum of melanocytic lesions. 53 62
17525627 2007
13
Congenital melanocytic nevi frequently harbor NRAS mutations but no BRAF mutations. 53 62
16888631 2007
14
BRAF and NRAS mutations in spitzoid melanocytic lesions. 53 62
16799476 2006
15
BRAF and NRAS mutations in melanoma and melanocytic nevi. 53 62
16845322 2006
16
Genetic alterations in melanocytic tumors. 53 62
16750612 2006
17
Implication of MT1-MMP in the maturation steps of benign melanocytic nevi. 53 62
16420309 2006
18
Absence of mutations in the coding sequence of the potential tumor suppressor 3pK in metastatic melanoma. 53 62
16367997 2005
19
Fatty acid synthase expression in cutaneous melanocytic neoplasms. 53 62
15920554 2005
20
Spitz nevi and atypical Spitz nevi/tumors: a histologic and immunohistochemical analysis. 53 62
15467715 2005
21
SPRY2 is an inhibitor of the ras/extracellular signal-regulated kinase pathway in melanocytes and melanoma cells with wild-type BRAF but not with the V599E mutant. 53 62
15313890 2004
22
Genetic interaction between NRAS and BRAF mutations and PTEN/MMAC1 inactivation in melanoma. 53 62
15009714 2004
23
BRAF mutations are common somatic events in melanocytic nevi. 53 62
15009715 2004
24
BRAF mutation: a frequent event in benign, atypical, and malignant melanocytic lesions of the skin. 53 62
14501284 2003
25
Expression of translation initiation factor eIF-2alpha is increased in benign and malignant melanocytic and colonic epithelial neoplasms. 53 62
12942578 2003
26
BRAF oncogenic mutations correlate with progression rather than initiation of human melanoma. 53 62
12873977 2003
27
S100A6 protein expression is different in Spitz nevi and melanomas. 53 62
12748257 2003
28
MMP-2, TIMP-2 and MT1-MMP are differentially expressed in lesional skin of melanocytic nevi and their expression is modulated by UVB-light. 53 62
12139633 2002
29
Loss of p14ARF expression in melanoma. 53 62
11876522 2002
30
S100A6 expression in fibrohistiocytic lesions. 53 62
11401666 2001
31
Immunohistochemical distinction of epithelioid histiocytic proliferations from epithelioid melanocytic nevi. 53 62
10871066 2000
32
A comparative immunohistochemical study of MART-1 expression in Spitz nevi, ordinary melanocytic nevi, and malignant melanomas. 53 62
10688724 2000
33
A major quantitative-trait locus for mole density is linked to the familial melanoma gene CDKN2A: a maximum-likelihood combined linkage and association analysis in twins and their sibs. 53 62
10417291 1999
34
Expression of catenins and p120cas in melanocytic nevi and cutaneous melanoma: deficient alpha-catenin expression is associated with melanoma progression. 53 62
10503270 1999
35
Lack of p73 mutations and late occurrence of p73 allelic deletions in melanoma tissues and cell lines. 53 62
10404074 1999
36
Expression of melan-A (MART1) in benign melanocytic nevi and primary cutaneous malignant melanoma. 53 62
9706977 1998
37
Prognostic significance of allelic losses in primary melanoma. 53 62
9619830 1998
38
Loss of expression of the p16INK4/CDKN2 gene in cutaneous malignant melanoma correlates with tumor cell proliferation and invasive stage. 53 62
9221801 1997
39
Expression of nerve growth factor and epidermal growth factor receptors in neural nevi with nevic corpuscles. 53 62
8902091 1996
40
Immunohistochemical expression of BCL-2 in melanomas and intradermal nevi. 53 62
7868749 1994
41
Nerve growth and expression of receptors for nerve growth factor in tumors of melanocyte origin. 53 62
1850772 1991
42
Cutaneous glomus tumor. A comparative immunohistochemical study with pseudoangiomatous intradermal melanocytic nevi. 53 62
1848411 1991
43
Neurofibromas and neurotized melanocytic nevi are immunohistochemically distinct neoplasms. 53 62
1693815 1990
44
Immunohistochemical demonstration of factor XIIIa expression in neurofibromas. A practical means of differentiating these tumors from neurotized melanocytic nevi and schwannomas. 53 62
1690969 1990
45
Transcriptomic analysis of mRNA expression in giant congenital melanocytic nevi. 62
36174903 2023
46
FLI-1/Melan-A dual stain is an alternative to PRAME in differentiating metastatic melanoma from nodal nevus: A monocentric retrospective study. 62
36454046 2022
47
The long-term evolution of melanocytic nevi among high-risk adults. 62
35881111 2022
48
SCALP syndrome with a germline heterozygous DOCK6 mutation and somatic mosaic NRAS Q61R mutation. 62
36456540 2022
49
Analyzing the Spatial Randomness in the Distribution of Acquired Melanocytic Neoplasms. 62
35841946 2022
50
Congenital Melanocytic Nevi Syndrome With Leptomeningeal Melanoma. 62
35867990 2022

Variations for Melanoma in Congenital Melanocytic Nevus

Expression for Melanoma in Congenital Melanocytic Nevus

Search GEO for disease gene expression data for Melanoma in Congenital Melanocytic Nevus.

Pathways for Melanoma in Congenital Melanocytic Nevus

Pathways related to Melanoma in Congenital Melanocytic Nevus according to GeneCards Suite gene sharing:

(show all 35)
# Super pathways Score Top Affiliating Genes
1 13.71 S100B RAF1 NRAS NGFR MC1R KDM4C
2
Show member pathways
12.82 RAF1 NRAS NGFR HRAS BRAF
3
Show member pathways
12.66 RAF1 NRAS MITF HRAS BRAF
4 12.59 RAF1 NGFR MMP14 HRAS CDKN2A
5
Show member pathways
12.58 RAF1 NRAS MITF HRAS BRAF
6
Show member pathways
12.55 RAF1 NRAS MITF HRAS CDKN2A BRAF
7
Show member pathways
12.54 RAF1 NRAS HRAS CDKN2A BRAF
8
Show member pathways
12.42 BRAF HRAS NRAS RAF1
9
Show member pathways
12.39 RAF1 NGFR HRAS BRAF
10
Show member pathways
12.38 RAF1 NRAS HRAS BRAF
11 12.33 RAF1 NRAS HRAS BRAF
12
Show member pathways
12.16 RAF1 NRAS HRAS BRAF
13
Show member pathways
12.15 RAF1 NRAS HRAS BRAF
14 12.13 HRAS NGFR NRAS RAF1
15
Show member pathways
12.03 RAF1 NRAS HRAS BRAF
16
Show member pathways
12 RAF1 NRAS HRAS BRAF
17
Show member pathways
11.97 RAF1 NRAS NGFR HRAS BRAF
18 11.85 RAF1 NRAS HRAS BRAF
19 11.67 NRAS HRAS CDKN2A
20
Show member pathways
11.63 BRAF HRAS NRAS RAF1
21
Show member pathways
11.57 NRAS HRAS BRAF
22 11.57 RAF1 MMP14 HRAS CDKN2A BRAF
23 11.54 RAF1 HRAS BRAF
24 11.52 RAF1 MITF CDKN2A
25
Show member pathways
11.49 RAF1 NRAS HRAS BRAF
26 11.28 RAF1 NRAS HRAS
27 11.26 RAF1 NRAS HRAS BRAF
28 11.16 RAF1 NRAS HRAS
29 11.14 RAF1 NRAS HRAS BRAF
30 10.98 RAF1 NRAS HRAS
31 10.96 RAF1 NRAS HRAS CDKN2A BRAF
32
Show member pathways
10.74 NRAS HRAS
33 10.69 RAF1 BRAF
34 10.53 RAF1 BRAF
35 10.47 TYR PMEL MLANA MITF MC1R

GO Terms for Melanoma in Congenital Melanocytic Nevus

Cellular components related to Melanoma in Congenital Melanocytic Nevus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 melanosome GO:0042470 9.23 TYR PMEL MMP14 MLANA

Biological processes related to Melanoma in Congenital Melanocytic Nevus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.76 RAF1 NRAS HRAS BRAF
2 thymus development GO:0048538 9.73 TYR RAF1 BRAF
3 pigmentation GO:0043473 9.35 TYR MITF MC1R
4 melanin biosynthetic process GO:0042438 9.1 TYR PMEL MC1R

Molecular functions related to Melanoma in Congenital Melanocytic Nevus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 S100 protein binding GO:0044548 9.1 S100B S100A6 S100A1

Sources for Melanoma in Congenital Melanocytic Nevus

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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