MCID: MLG005
MIFTS: 42

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
SNOMED-CT 68 68827007

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 sarcomatoid squamous cell skin carcinoma. An important gene associated with Malignant Spindle Cell Melanoma is SOX10 (SRY-Box 10), and among its related pathways/superpathways are MAPK signaling pathway and Ras signaling pathway. Affiliated tissues include skin, lymph node and spinal cord, 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 91)
# Related Disease Score Top Affiliating Genes
1 malignant peripheral nerve sheath tumor 30.1 KIT NF1 SOX10
2 sarcomatoid squamous cell skin carcinoma 30.0 MITF NGFR
3 neurofibroma 29.9 KIT MITF NF1 SOX10
4 neurofibromatosis, type i 29.8 KIT NF1
5 microphthalmia 29.8 KIT MITF PMEL TYR
6 clear cell sarcoma 29.7 KIT MITF
7 skin melanoma 29.7 MITF NRAS PMEL TYR
8 choroid spindle cell melanoma 12.4
9 ciliary body spindle cell melanoma 12.4
10 iris spindle cell melanoma 12.3
11 spindle cell intraocular melanoma 11.3
12 melanoma 11.0
13 waardenburg syndrome type 4 10.2 MITF SOX10
14 waardenburg syndrome, type 2e 10.2 MITF SOX10
15 waardenburg syndrome, type 3 10.2 MITF SOX10
16 albinism, ocular, with sensorineural deafness 10.2 MITF TYR
17 waardenburg syndrome, type 4b 10.2 MITF SOX10
18 cochlear disease 10.2 MITF SOX10
19 pigmented basal cell carcinoma 10.2 MITF TYR
20 hypomelanosis of ito 10.2 MITF TYR
21 waardenburg syndrome, type 4a 10.2 MITF SOX10
22 gallbladder melanoma 10.2 MITF PMEL
23 epithelioid cell melanoma 10.2 MITF TYR
24 halo nevi 10.2 PMEL TYR
25 malignant conjunctival melanoma 10.2 NRAS SOX10
26 melanoacanthoma 10.2 PMEL TYR
27 diffuse meningeal melanocytosis 10.2 PMEL TYR
28 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 10.1 MITF SOX10
29 small cell sarcoma 10.1 NRAS SOX10
30 neurofibrosarcoma 10.1
31 atypical neurofibroma 10.1 NF1 SOX10
32 melanocytic nevus syndrome, congenital 10.1 NRAS TYR
33 pilocytic astrocytoma 10.1 NF1 SOX10
34 histiocytoma 10.1 KIT MITF
35 hermansky-pudlak syndrome 1 10.1 SOX10 TYR
36 albinism, oculocutaneous, type iv 10.1 MITF TYR
37 spinal meningioma 10.1 NF1 SOX10
38 spinal canal and spinal cord meningioma 10.1 NF1 SOX10
39 cutaneous ganglioneuroma 10.1 KIT MITF
40 albinism, ocular, with late-onset sensorineural deafness 10.1 MITF SOX10 TYR
41 tietz albinism-deafness syndrome 10.1 MITF SOX10 TYR
42 waardenburg syndrome, type 2a 10.1 MITF SOX10 TYR
43 waardenburg syndrome, type 1 10.1 MITF SOX10 TYR
44 dyschromatosis symmetrica hereditaria 10.1 MITF SOX10 TYR
45 ocular albinism 10.1 MITF TYR
46 intraneural perineurioma 10.1 NF1 SOX10
47 myelodysplastic myeloproliferative cancer 10.1 NF1 NRAS
48 skin sarcoma 10.1 MITF NGFR
49 amelanotic melanoma 10.1 KIT TYR
50 vitiligo-associated multiple autoimmune disease susceptibility 6 10.0 MITF PMEL TYR

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

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

MalaCards organs/tissues related to Malignant Spindle Cell Melanoma:

41
Skin, Lymph Node, Spinal Cord, Myeloid, Lung

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

19
Sun-Exposed Skin

Publications for Malignant Spindle Cell Melanoma

Articles related to Malignant Spindle Cell Melanoma:

(show top 50) (show all 155)
# Title Authors Year
1
BCAT1 and miR-2504: novel methylome signature distinguishes spindle/desmoplastic melanoma from superficial malignant peripheral nerve sheath tumor. ( 30310175 )
2018
2
Hypercellular Encapsulated Neuroma Imitating Desmoplastic Melanoma. ( 30531539 )
2018
3
Desmoplastic melanoma. ( 30481377 )
2018
4
Comparing survival outcomes in early stage desmoplastic melanoma with or without adjuvant radiation. ( 30383720 )
2018
5
Spindle cell melanoma: Incidence and survival, 1973-2017. ( 30250577 )
2018
6
Desmoplastic melanoma: a diagnostic challenge. ( 28704986 )
2018
7
Mixed Versus Pure Variants of Desmoplastic Melanoma: The Cleveland Clinic Experience. ( 28984655 )
2018
8
Melanocytic naevi with perineurial differentiation: a distinctive variant of neurotised naevi and a diagnostic pitfall with desmoplastic melanoma. ( 29023914 )
2018
9
Desmoplastic Melanoma of the Periorbital Region. ( 29194286 )
2018
10
Patients with Desmoplastic Melanoma May Respond to PD-1 Blockade. ( 29352047 )
2018
11
Lymphoid aggregates in desmoplastic melanoma have features of tertiary lymphoid structures. ( 29538091 )
2018
12
Desmoplastic melanoma of the oral cavity: diagnostic pitfalls and clinical characteristics. ( 29732311 )
2018
13
Nanocarrier-Mediated Chemo-Immunotherapy Arrested Cancer Progression and Induced Tumor Dormancy in Desmoplastic Melanoma. ( 30016071 )
2018
14
Desmoplastic melanoma versus spindle cell melanoma: Incidence and survival, 1973 to 2017. ( 30024556 )
2018
15
Nano-delivery of fraxinellone remodels tumor microenvironment and facilitates therapeutic vaccination in desmoplastic melanoma. ( 30083259 )
2018
16
Case of desmoplastic melanoma with lung metastasis maintaining complete response after cessation of nivolumab. ( 27461747 )
2017
17
Desmoplastic melanoma: a challenge for the oncologist. ( 27728982 )
2017
18
NF1 and Neurofibromin: Emerging Players in the Genetic Landscape of Desmoplastic Melanoma. ( 27941538 )
2017
19
Is sentinel lymph node biopsy warranted for desmoplastic melanoma? A systematic review. ( 28017261 )
2017
20
Errors in dermatology: desmoplastic melanoma - the amazing monster. ( 28177579 )
2017
21
Detection of desmoplastic melanoma with dermoscopy and reflectance confocal microscopy. ( 28573666 )
2017
22
Head and neck desmoplastic melanoma: Utility of sentinel node biopsy. ( 28662971 )
2017
23
PDL1 expression in desmoplastic melanoma is associated with tumor aggressiveness and progression. ( 28728868 )
2017
24
Desmoplastic Melanoma of the Head and Neck: Incidence and Survival, 1992-2013. ( 28828926 )
2017
25
Desmoplastic Melanoma. ( 28943995 )
2017
26
Gene expression signature as an ancillary method in the diagnosis of desmoplastic melanoma. ( 29079183 )
2017
27
Superficial malignant peripheral nerve sheath tumor with overlying intradermal melanocytic nevus mimicking spindle cell melanoma. ( 27687011 )
2016
28
Spindle Cell Melanoma and Interdigitating Dendritic Cell Sarcoma: Do They Represent the Same Process? ( 27299798 )
2016
29
Desmoplastic melanoma presenting as primary alopecia neoplastica: a report of two cases. ( 27272456 )
2016
30
Roles of adjuvant and salvage radiotherapy for desmoplastic melanoma. ( 26397051 )
2016
31
Desmoplastic melanoma: an updated immunohistochemical analysis of 40 cases with a proposal for an additional panel of stains for diagnosis. ( 26661921 )
2016
32
Desmoplastic melanoma: C>Ts and NF-κB. ( 26663830 )
2016
33
Desmoplastic Melanoma: Clinical Behavior and Management Implications. ( 26816556 )
2016
34
A desmoplastic melanoma detected by an airport security scanner. ( 27019945 )
2016
35
Diagnostic Challenge of Desmoplastic Melanoma. ( 27134705 )
2016
36
Results of NCCTG N0275 (Alliance) - a phase II trial evaluating resection followed by adjuvant radiation therapy for patients with desmoplastic melanoma. ( 27368067 )
2016
37
Erratum to "Primary Desmoplastic Melanoma of the Penis". ( 27843671 )
2016
38
Desmoplastic melanoma of the eyelid and conjunctival melanoma in neurofibromatosis type 1: a clinical pathological correlation. ( 25233828 )
2015
39
Desmoplastic melanoma in a fingertip: a rare entity. ( 25283961 )
2015
40
The emerging role of radiotherapy for desmoplastic melanoma and implications for future research. ( 25588202 )
2015
41
Neurotrophin receptors and perineural invasion in desmoplastic melanoma. ( 25752716 )
2015
42
Clinicopathologic predictors of survival in patients with desmoplastic melanoma. ( 25811671 )
2015
43
(S009) Radiation therapy improves outcomes with desmoplastic melanoma of the head and neck. ( 25930773 )
2015
44
Desmoplastic melanoma, neurotropism, and neurotrophin receptors--what we know and what we do not. ( 26050260 )
2015
45
Desmoplastic Melanoma Carries High Mutation Burden. ( 26432107 )
2015
46
Primary Desmoplastic Melanoma of the Penis. ( 26613063 )
2015
47
Desmoplastic melanoma. ( 26682559 )
2015
48
An unusual case of desmoplastic melanoma containing an osteoclast-like giant cell-rich nodule. ( 24999544 )
2015
49
Reddish plaque on the arm of a 53-year-old woman. Diagnosis: Desmoplastic melanoma (DM). ( 25219723 )
2014
50
Comparison of MelanA/MART-1 and HMB45 labeling in desmoplastic melanoma. ( 25269808 )
2014

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 12.23 KIT NF1 NGFR NRAS
2
Show member pathways
12.1 KIT NF1 NGFR NRAS
3
Show member pathways
11.66 KIT MITF NRAS TYR
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 negative regulation of apoptotic process GO:0043066 9.67 KIT MITF NGFR SOX10
2 MAPK cascade GO:0000165 9.63 KIT NF1 NRAS
3 regulation of cell proliferation GO:0042127 9.5 KIT MITF NF1
4 visual learning GO:0008542 9.48 KIT NF1
5 stem cell differentiation GO:0048863 9.43 KIT SOX10
6 peripheral nervous system development GO:0007422 9.4 NF1 SOX10
7 Ras protein signal transduction GO:0007265 9.33 NF1 NRAS RREB1
8 melanin biosynthetic process GO:0042438 9.26 PMEL TYR
9 melanocyte differentiation GO:0030318 9.13 KIT MITF SOX10
10 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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