MCID: MLG005
MIFTS: 34

Malignant Spindle Cell Melanoma

Categories: Cancer diseases, Skin diseases

Aliases & Classifications for Malignant Spindle Cell Melanoma

MalaCards integrated aliases for Malignant Spindle Cell Melanoma:

Name: Malignant Spindle Cell Melanoma 12 15
Desmoplastic Melanoma 12 73
Spindle Cell Melanoma 12 73
Spindle Cell Malignant Melanoma 12
Spitzoid Malignant Melanoma 12

Classifications:



External Ids:

Disease Ontology 12 DOID:3162
NCIt 50 C4237

Summaries for Malignant Spindle Cell Melanoma

Disease Ontology : 12 A melanoma that is most commonly located in sun-exposed skin and results in_formation_ of spindle-like shaped cells that have a high recurrence rate even with treatment.

MalaCards based summary : Malignant Spindle Cell Melanoma, also known as desmoplastic melanoma, is related to malignant peripheral nerve sheath tumor and neurofibroma. An important gene associated with Malignant Spindle Cell Melanoma is SOX10 (SRY-Box 10), and among its related pathways/superpathways are Aldosterone synthesis and secretion and MAPK signaling pathway. Affiliated tissues include sun-exposed skin and skin, and related phenotypes are behavior/neurological and cellular

Related Diseases for Malignant Spindle Cell Melanoma

Diseases related to Malignant Spindle Cell Melanoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 75)
# Related Disease Score Top Affiliating Genes
1 malignant peripheral nerve sheath tumor 29.4 KIT NF1 SOX10
2 neurofibroma 29.3 KIT MITF NF1 SOX10
3 microphthalmia 28.9 KIT MITF PMEL TYR
4 choroid spindle cell melanoma 12.2
5 ciliary body spindle cell melanoma 12.2
6 iris spindle cell melanoma 12.2
7 waardenburg syndrome type 4 10.7 MITF SOX10
8 waardenburg syndrome, type 2e 10.6 MITF SOX10
9 waardenburg syndrome, type 4a 10.6 MITF SOX10
10 waardenburg syndrome, type 1 10.6 MITF SOX10
11 albinism, ocular, with sensorineural deafness 10.6 MITF TYR
12 melanoma 10.6
13 pigmented basal cell carcinoma 10.6 MITF TYR
14 cochlear disease 10.6 MITF SOX10
15 gallbladder melanoma 10.6 MITF PMEL
16 epithelioid cell melanoma 10.5 MITF TYR
17 halo nevi 10.5 PMEL TYR
18 melanotic neurilemmoma 10.5 PMEL TYR
19 diffuse meningeal melanocytosis 10.5 PMEL TYR
20 malignant conjunctival melanoma 10.5 NRAS SOX10
21 melanoacanthoma 10.5 PMEL TYR
22 pigmentation disease 10.5 MITF TYR
23 small cell sarcoma 10.4 NRAS SOX10
24 hermansky-pudlak syndrome 1 10.4 SOX10 TYR
25 atypical neurofibroma 10.4 NF1 SOX10
26 melanocytic nevus syndrome, congenital 10.3 NRAS TYR
27 ocular albinism 10.3 MITF TYR
28 cutaneous ganglioneuroma 10.3 KIT MITF
29 tietz albinism-deafness syndrome 10.2 MITF SOX10 TYR
30 dyschromatosis symmetrica hereditaria 10.2 MITF SOX10 TYR
31 intraneural perineurioma 10.2 NF1 SOX10
32 skin sarcoma 10.2 MITF NGFR
33 myelodysplastic myeloproliferative cancer 10.2 NF1 NRAS
34 amelanotic melanoma 10.2 KIT TYR
35 hermansky-pudlak syndrome 3 10.1 MITF PMEL TYR
36 ovarian melanoma 10.1 KIT NRAS
37 vitiligo-associated multiple autoimmune disease susceptibility 1 10.1 MITF PMEL TYR
38 conventional fibrosarcoma 10.1 KIT NRAS
39 acral lentiginous melanoma 10.1 KIT NRAS
40 congenital mesoblastic nephroma 10.0 KIT NRAS
41 vogt-koyanagi-harada disease 10.0 PMEL TYR
42 piebald trait 10.0 KIT MITF
43 hirschsprung disease 1 10.0 MITF NGFR SOX10
44 core binding factor acute myeloid leukemia 10.0 KIT NRAS
45 mast cell disease 10.0 KIT MITF
46 neurofibrosarcoma 9.9
47 neurofibromatosis, type i 9.9 KIT NF1
48 dowling-degos disease 1 9.9 KIT MITF TYR
49 angiomyolipoma 9.9 KIT MITF TYR
50 clear cell sarcoma 9.9 KIT MITF

Graphical network of the top 20 diseases related to Malignant Spindle Cell Melanoma:



Diseases related to Malignant Spindle Cell Melanoma

Symptoms & Phenotypes for Malignant Spindle Cell Melanoma

MGI Mouse Phenotypes related to Malignant Spindle Cell Melanoma:

46 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.11 KIT NF1 NGFR MITF SOX10 NRAS
2 cellular MP:0005384 10.1 KIT NF1 MITF TYR NGFR SOX10
3 homeostasis/metabolism MP:0005376 10.06 KIT NF1 NGFR MITF PMEL SOX10
4 growth/size/body region MP:0005378 10.04 KIT NF1 MITF TYR NGFR SOX10
5 integument MP:0010771 10.03 MITF NGFR KIT NF1 SOX10 NRAS
6 craniofacial MP:0005382 10.02 NF1 MITF NGFR KIT NRAS TYR
7 embryo MP:0005380 10 KIT NF1 MITF SOX10 NRAS TYR
8 endocrine/exocrine gland MP:0005379 9.99 KIT NF1 MITF TYR SOX10 NRAS
9 limbs/digits/tail MP:0005371 9.95 MITF NGFR KIT NF1 SOX10 NRAS
10 digestive/alimentary MP:0005381 9.93 KIT NF1 NGFR SOX10 NRAS
11 hearing/vestibular/ear MP:0005377 9.88 KIT NF1 MITF NGFR TYR
12 no phenotypic analysis MP:0003012 9.8 MITF KIT PMEL SOX10 NRAS TYR
13 normal MP:0002873 9.8 NF1 MITF NGFR KIT SOX10 NRAS
14 neoplasm MP:0002006 9.77 KIT NF1 SOX10 NRAS TYR
15 pigmentation MP:0001186 9.7 MITF KIT NF1 SOX10 NRAS TYR
16 skeleton MP:0005390 9.43 KIT NF1 MITF NGFR NRAS TYR
17 vision/eye MP:0005391 9.17 MITF NGFR KIT NF1 NRAS TYR

Drugs & Therapeutics for Malignant Spindle Cell Melanoma

Search Clinical Trials , NIH Clinical Center for Malignant Spindle Cell Melanoma

Genetic Tests for Malignant Spindle Cell Melanoma

Anatomical Context for Malignant Spindle Cell Melanoma

The Foundational Model of Anatomy Ontology organs/tissues related to Malignant Spindle Cell Melanoma:

19
Sun-Exposed Skin

MalaCards organs/tissues related to Malignant Spindle Cell Melanoma:

41
Skin

Publications for Malignant Spindle Cell Melanoma

Articles related to Malignant Spindle Cell Melanoma:

(show all 11)
# Title Authors Year
1
Superficial malignant peripheral nerve sheath tumor with overlying intradermal melanocytic nevus mimicking spindle cell melanoma. ( 27687011 )
2016
2
Spindle Cell Melanoma and Interdigitating Dendritic Cell Sarcoma: Do They Represent the Same Process? ( 27299798 )
2016
3
Neurofibroma with numerous lymphoid aggregates simulating spindle cell melanoma: utilization of CD34 fingerprint for diagnosis. ( 23812017 )
2013
4
BRAF, NRAS and KIT sequencing analysis of spindle cell melanoma. ( 22809251 )
2012
5
Cutaneous clear cell sarcoma: report of three cases of a potentially underestimated mimicker of spindle cell melanoma. ( 22421295 )
2012
6
P75 nerve growth factor receptor as a useful marker to distinguish spindle cell melanoma from other spindle cell neoplasms of sun-damaged skin. ( 22207443 )
2012
7
Neurofibroma-like spindle cell melanoma: CD34 fingerprint and CGH for diagnosis. ( 22456515 )
2012
8
Spindle cell melanoma arising from decades-old burn scar. ( 20009817 )
2009
9
Interdigital amelanotic spindle-cell melanoma mimicking an inflammatory process due to dermatophytosis. ( 17908146 )
2007
10
Desmoplastic and spindle cell melanomas express protein markers of the neural crest but not of later committed stages of Schwann cell differentiation. ( 12358815 )
2002
11
Microphthalmia transcription factor and melanoma cell adhesion molecule expression distinguish desmoplastic/spindle cell melanoma from morphologic mimics. ( 11145252 )
2001

Variations for Malignant Spindle Cell Melanoma

Expression for Malignant Spindle Cell Melanoma

Search GEO for disease gene expression data for Malignant Spindle Cell Melanoma.

Pathways for Malignant Spindle Cell Melanoma

Pathways related to Malignant Spindle Cell Melanoma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.42 KIT MITF NRAS TYR
2 12.12 KIT NF1 NGFR NRAS
3
Show member pathways
11.9 KIT NF1 NGFR NRAS
4 11 NF1 NRAS
5 10.41 KIT MITF SOX10

GO Terms for Malignant Spindle Cell Melanoma

Biological processes related to Malignant Spindle Cell Melanoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.61 KIT NF1 NRAS
2 visual learning GO:0008542 9.46 KIT NF1
3 stem cell differentiation GO:0048863 9.4 KIT SOX10
4 melanocyte differentiation GO:0030318 9.37 KIT MITF
5 Ras protein signal transduction GO:0007265 9.33 NF1 NRAS RREB1
6 developmental pigmentation GO:0048066 9.32 KIT PMEL
7 melanin biosynthetic process GO:0042438 9.26 PMEL TYR
8 regulation of cell proliferation GO:0042127 9.26 KIT MITF NF1 NGFR
9 pigmentation GO:0043473 8.92 KIT MITF NF1 TYR

Sources for Malignant Spindle Cell Melanoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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