MCID: MLG005
MIFTS: 41

Malignant Spindle Cell Melanoma

Categories: Cancer diseases, Skin diseases
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Aliases & Classifications for Malignant Spindle Cell Melanoma

MalaCards integrated aliases for Malignant Spindle Cell Melanoma:

Name: Malignant Spindle Cell Melanoma 11 14
Spindle Cell Melanoma 11 16 71
Desmoplastic Melanoma 11 71
Spindle Cell Malignant Melanoma 11
Spitzoid Malignant Melanoma 11

Classifications:



External Ids:

Disease Ontology 11 DOID:3162
NCIt 49 C4237
SNOMED-CT 68 68827007
UMLS 71 C0334444 C1333280

Summaries for Malignant Spindle Cell Melanoma

Disease Ontology: 11 A melanoma that is composed of spindled neoplastic cells arranged in sheets and fascicles.

MalaCards based summary: Malignant Spindle Cell Melanoma, also known as spindle cell melanoma, is related to fibrous histiocytoma and fibroma. An important gene associated with Malignant Spindle Cell Melanoma is MLANA (Melan-A), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. The drugs Pembrolizumab and Antineoplastic Agents, Immunological have been mentioned in the context of this disorder. Affiliated tissues include lymph node, skin and spinal cord, and related phenotypes are Decreased viability and homeostasis/metabolism

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 488)
# Related Disease Score Top Affiliating Genes
1 fibrous histiocytoma 30.5 SOX10 SERPINA3 MLANA MITF CD34
2 fibroma 30.5 SERPINA3 NF1 CD34
3 melanocytic nevus syndrome, congenital 30.4 NRAS HRAS
4 neuroma 30.4 SERPINA3 NF1 KIT CD34
5 malignant choroid melanoma 30.4 MLANA GNAQ GNA11
6 angiosarcoma 30.3 SERPINA3 KIT CD34
7 clear cell sarcoma 30.3 TYR SOX10 MLANA MITF KIT
8 cutaneous leiomyosarcoma 30.2 MLANA KIT CD34
9 cutaneous fibrous histiocytoma 30.2 SOX10 SERPINA3 MLANA MITF CD34
10 rapidly involuting congenital hemangioma 30.1 GNAQ GNA11
11 sarcomatoid squamous cell skin carcinoma 30.1 SOX10 SERPINA3 MLANA CD34
12 neurofibromatosis-noonan syndrome 30.1 RASA2 NF1 HRAS
13 melanotic neurilemmoma 30.0 SOX10 MLANA GNAQ GNA11
14 malignant fibrous histiocytoma 29.9 TP53 SERPINA3 KIT
15 microphthalmia 29.9 TYR SOX10 PMEL MLANA MITF KIT
16 epithelioid cell melanoma 29.8 TYR NGFR MLANA MITF GNAQ GNA11
17 b-lymphoblastic leukemia/lymphoma 29.8 KIT CDKN2A CD34
18 dermatofibrosarcoma protuberans 29.7 TLE1 SOX10 SERPINA3 MLANA KIT CD34
19 amelanotic melanoma 29.7 TYR SOX10 SERPINA3 NRAS MLANA MITF
20 neurilemmoma 29.6 TYR SOX10 SERPINA3 NGFR NF1 MLANA
21 colorectal adenocarcinoma 29.6 TP53 HRAS CD274
22 mesenchymal cell neoplasm 29.5 TP53 SERPINA3 NF1 MLANA KIT CD34
23 malignant peripheral nerve sheath tumor 29.4 TP53 SOX10 NGFR NF1 MITF KIT
24 inherited cancer-predisposing syndrome 29.4 TP53 NF1 MITF KIT CDKN2A
25 bap1 tumor predisposition syndrome 29.4 TP53 NF1 MITF KIT CDKN2A
26 connective tissue benign neoplasm 29.3 TP53 SOX10 SERPINA3 NF1 MLANA KIT
27 malignant conjunctival melanoma 29.3 NRAS NF1 MLANA KIT HRAS GNAQ
28 spitzoid melanoma 29.3 PRAME NRAS MLANA HRAS GNAQ GNA11
29 mixed cell type cancer 29.3 TP53 SERPINA3 KIT HRAS CDKN2A
30 skin benign neoplasm 29.2 TYR TP53 SERPINA3 NF1 MLANA HRAS
31 leiomyosarcoma 29.1 TP53 SERPINA3 NF1 MLANA KIT CDKN2A
32 neurofibromatosis 29.0 TP53 RASA2 NRAS NF1 KIT HRAS
33 skin melanoma 28.8 TYR TP53 NRAS MLANA MITF KIT
34 leukemia, chronic lymphocytic 28.7 TP53 NRAS KIT HRAS CDKN2A CD34
35 neurofibroma 28.6 TYR TP53 SOX10 RASA2 NGFR NF1
36 neurofibromatosis, type i 28.5 TP53 RASA2 NRAS NGFR NF1 KIT
37 melanoma 28.4 TYR TP53 SOX10 PRAME PMEL NRAS
38 melanoma in congenital melanocytic nevus 28.3 TYR TP53 SOX10 PMEL NRAS NGFR
39 myxofibrosarcoma 28.0 TP53 TLE1 SOX10 SERPINA3 NF1 KIT
40 mucosal melanoma 28.0 TYR SOX10 PMEL NRAS NF1 MLANA
41 peripheral nervous system disease 27.9 TP53 SOX10 SERPINA3 NRAS NGFR NF1
42 melanoma, cutaneous malignant 1 27.8 TYR TP53 SOX10 PMEL NRAS NF1
43 nodular malignant melanoma 27.7 TYR TP53 SOX10 PMEL NRAS NF1
44 choroid spindle cell melanoma 11.6
45 ciliary body spindle cell melanoma 11.5
46 iris spindle cell melanoma 11.4
47 spindle cell intraocular melanoma 11.3
48 conjunctival pigmentation 10.4 SOX10 MLANA
49 ciliary body cancer 10.4 TYR MLANA
50 ureter leiomyoma 10.4 MLANA KIT

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

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

25 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.2 CD274 CD34 CDKN2A GNA11 GNAQ HRAS
2 no effect GR00402-S-2 10.2 CD274 CD34 CDKN2A GNA11 GNAQ HRAS
3 Decreased viability GR00055-A-1 9.89 HRAS
4 Decreased viability GR00055-A-2 9.89 HRAS
5 Decreased viability GR00221-A-1 9.89 CDKN2A HRAS KIT NF1 NRAS
6 Decreased viability GR00221-A-2 9.89 HRAS NF1
7 Decreased viability GR00221-A-3 9.89 CDKN2A HRAS NRAS
8 Decreased viability GR00221-A-4 9.89 CDKN2A NF1
9 Decreased viability GR00249-S 9.89 NF1
10 Decreased viability GR00301-A 9.89 KIT
11 Decreased viability GR00386-A-1 9.89 NF1

MGI Mouse Phenotypes related to Malignant Spindle Cell Melanoma:

45 (show all 21)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.43 CD274 CD34 CDKN2A GNA11 GNAQ HRAS
2 pigmentation MP:0001186 10.38 CDKN2A GNA11 GNAQ KIT MITF MLANA
3 normal MP:0002873 10.32 GNA11 GNAQ HRAS KIT MITF NF1
4 no phenotypic analysis MP:0003012 10.32 CD274 CDKN2A HRAS KIT MITF MLANA
5 behavior/neurological MP:0005386 10.28 CD274 CDKN2A GNA11 GNAQ HRAS KIT
6 endocrine/exocrine gland MP:0005379 10.27 CDKN2A GNA11 GNAQ HRAS KIT MITF
7 neoplasm MP:0002006 10.24 CD34 CDKN2A HRAS KIT NF1 NRAS
8 limbs/digits/tail MP:0005371 10.24 GNA11 GNAQ KIT MITF NF1 NGFR
9 renal/urinary system MP:0005367 10.22 GNA11 GNAQ HRAS KIT MITF NF1
10 cellular MP:0005384 10.21 CD274 CD34 CDKN2A KIT MITF NF1
11 immune system MP:0005387 10.18 CD274 CD34 CDKN2A GNA11 GNAQ KIT
12 muscle MP:0005369 10.16 CDKN2A GNA11 GNAQ HRAS KIT NF1
13 craniofacial MP:0005382 10.16 GNA11 GNAQ HRAS KIT MITF NF1
14 liver/biliary system MP:0005370 10.15 CDKN2A GNA11 KIT MITF NF1 NGFR
15 hearing/vestibular/ear MP:0005377 10.11 GNA11 GNAQ KIT MITF NF1 NGFR
16 digestive/alimentary MP:0005381 10.08 CDKN2A HRAS KIT NF1 NGFR NRAS
17 skeleton MP:0005390 10.03 CD274 CDKN2A GNA11 GNAQ HRAS KIT
18 respiratory system MP:0005388 9.97 CDKN2A GNA11 GNAQ HRAS KIT NF1
19 hematopoietic system MP:0005397 9.97 CD274 CD34 CDKN2A GNA11 GNAQ KIT
20 mortality/aging MP:0010768 9.8 CD274 CDKN2A GNA11 GNAQ HRAS KIT
21 integument MP:0010771 9.55 CD274 CD34 CDKN2A GNA11 GNAQ HRAS

Drugs & Therapeutics for Malignant Spindle Cell Melanoma

Drugs for Malignant Spindle Cell Melanoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pembrolizumab Approved Phase 2 1374853-91-4 254741536
2 Antineoplastic Agents, Immunological Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase II Trial Evaluating Resection Followed By Adjuvant Radiation Therapy (RT) For Patients With Desmoplastic Melanoma Completed NCT00060333 Phase 2
2 A Phase II and Pilot Trial of PD-1 Blockade With Pembrolizumab (MK-3475) in Patients With Resectable or Unresectable Desmoplastic Melanoma (DM) Active, not recruiting NCT02775851 Phase 2

Search NIH Clinical Center for Malignant Spindle Cell Melanoma

Genetic Tests for Malignant Spindle Cell Melanoma

Anatomical Context for Malignant Spindle Cell Melanoma

Organs/tissues related to Malignant Spindle Cell Melanoma:

MalaCards : Lymph Node, Skin, Spinal Cord, Breast, Cervix, Testis, Lung

Publications for Malignant Spindle Cell Melanoma

Articles related to Malignant Spindle Cell Melanoma:

(show top 50) (show all 512)
# Title Authors PMID Year
1
PRAME expression in spindle cell melanoma, malignant peripheral nerve sheath tumour, and other cutaneous sarcomatoid neoplasms: a comparative analysis. 62
36102613 2022
2
Diagnostic utility of PRAME, p53 and 5-hmC immunostaining for distinguishing melanomas from naevi, neurofibromas, scars and other histological mimics. 62
35987723 2022
3
Desmoplastic melanoma treated with wide local excision or Mohs micrographic surgery: Rates of positive margins, local recurrence, and repeat surgeries. 62
35963290 2022
4
Sentinel lymph node biopsy in desmoplastic melanoma - the percent desmoplastic component matters: A systematic review. 62
36283925 2022
5
Current and future approaches in the surgical management of T3b/T4 primary and locoregionally advanced melanoma. 62
36066835 2022
6
Stage II desmoplastic melanoma treated with neoadjuvant immunotherapy and Mohs micrographic surgery. 62
36271491 2022
7
PRAME Immunoexpression in 275 Cutaneous Melanocytic Lesions: A Double Institutional Experience. 62
36140597 2022
8
PRAME expression is similar in scar and desmoplastic melanoma. 62
35752877 2022
9
From Morphea to Dermatofibrosarcoma Protuberans. 62
36254545 2022
10
Nasal Mucosal Desmoplastic Melanoma: A Case Report with Review of the Literature. 62
35257324 2022
11
Does the morphology of cutaneous melanoma help to explain the international differences in survival? Results from 1 578 482 adults diagnosed during 2000-2014 in 59 countries (CONCORD-3). 62
35347700 2022
12
Pure and Mixed Desmoplastic Melanoma Subtypes Exhibit Distinct Genetic Drivers. 62
34999597 2022
13
An Unusual Case of Desmoplastic Melanoma With Monster Cells Imitating an Atypical Fibroxanthoma. 62
34541940 2022
14
Clinical challenge - scratching the surface of the sheath. 62
33610587 2022
15
Evolution of superficial spreading melanoma to resemble desmoplastic melanoma: case report. 62
34286349 2022
16
Sarcomatoid Dedifferentiated Melanoma: The Diagnostic Role of Next-Generation Sequencing. 62
34726188 2022
17
Spindle cell tumors of the pleura and the peritoneum: pathologic diagnosis and updates. 62
34942046 2022
18
The changing landscape in management of desmoplastic melanoma. 62
34535908 2022
19
Update on the Diagnosis and Management of Desmoplastic Melanoma. 62
35249710 2022
20
Acute appendicitis secondary to desmoplastic melanoma metastasis in immune-checkpoint inhibitors era. 62
34456328 2021
21
Atypical Fibroxanthoma Demonstrating HMB45+ Staining. 62
34132658 2021
22
Primary Alopecia Neoplastica: A Novel Case Report and Literature Review. 62
34901185 2021
23
Comparison of Survival Outcomes With/Without Adjuvant Radiation Therapy in Desmoplastic Melanoma. 62
34537788 2021
24
Evolving treatments and future therapeutic targets in desmoplastic melanoma. 62
34900219 2021
25
PDGFB RNA in situ hybridization for the diagnosis of dermatofibrosarcoma protuberans. 62
33762682 2021
26
Melanoma genomics: a state-of-the-art review of practical clinical applications. 62
34096042 2021
27
Evolution of a melanoma in situ to a sarcomatoid dedifferentiated melanoma. 62
33675557 2021
28
Dermatoscopy of melanoma according to type, anatomic site and stage. 62
33314891 2021
29
Desmoplastic melanoma: a review of its pathology and clinical behaviour, and of management recommendations in published guidelines. 62
33544941 2021
30
Metastatic Melanoma With Features of Desmoplastic Melanoma in a Patient With Primary Cutaneous Superficial Spreading Melanoma With Epithelioid Features. 62
33464752 2021
31
Unusual presentation of a choroidal melanoma. 62
34045197 2021
32
Uveal Melanoma and Secondary Angle-Closure Crisis: A Case Report and Literature Review. 62
34177544 2021
33
Desmoplastic Melanoma Masquerading as Neurofibroma. 62
34288854 2021
34
An eyebrow lump: malignant spindle cell melanoma. 62
33728636 2021
35
Primary Cutaneous Desmoplastic Melanoma With Collagen Rosettes and Pseudoglandular Features. 62
33201013 2021
36
Local Recurrence Rates of Skin Tumors After Resection With Complete Circumferential Peripheral and Deep Margin Assessment-Identification of High-Risk Entities. 62
33565775 2021
37
LMNA-NTRK1 rearranged mesenchymal tumor (lipofibromatosis-like neural tumor) mimicking pigmented dermatofibrosarcoma protuberans. 62
32519338 2021
38
Re-evaluation of Sentinel Lymph Node Biopsy for Melanoma. 62
33560505 2021
39
Desmoplastic Melanoma: A Clinicopathological Analysis of Three Cases in the Chinese Population. 62
33883908 2021
40
Cutaneous Desmoplastic Leiomyosarcoma Development at Smallpox Vaccination Site. 62
35022120 2021
41
Unusual Mesenchymal Tumors of the Lower Gastrointestinal Tract: When You Hear Hoofbeats in the Night, Do Not Forget the Zebras. 62
34814148 2021
42
Diagnosis and Management of Melanoma of the Scalp: A Review of the Literature. 62
34675579 2021
43
Extensive Perineural Spread of Subungual Melanoma. 62
32916345 2021
44
Impact of Therapy & Age in Choroidal Cancers: A Retrospective Cohort Analysis of 7722 Patients from a US National Database. 62
33953535 2021
45
Pitfalls in the diagnosis of lentigo maligna and lentigo maligna melanoma, facts and an opinion. 62
33051287 2021
46
Lentigo maligna melanoma in situ with neurotropism. 62
32557727 2020
47
Desmoplastic Melanomas Mimicking Neurofibromas. 62
32732692 2020
48
Spindle cell melanoma coexisting with chronic lymphocytic leukemia/small lymphocytic lymphoma: a rare collision tumor in multiple sites. 62
32959377 2020
49
The Histogenetic Model of Melanoma in the Modern Era of Personalized Medicine. 62
33834997 2020
50
Spindle-cell malignant melanoma. 62
31249216 2020

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:

(show all 32)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.74 TP53 SOX10 NRAS NGFR NF1 KIT
2 13.59 CD274 GNA11 GNAQ HRAS KIT NF1
3
Show member pathways
13.37 TP53 RASA2 NRAS NF1 HRAS GNAQ
4
Show member pathways
12.98 GNA11 HRAS KIT NGFR NRAS TP53
5
Show member pathways
12.81 TP53 NGFR HRAS GNAQ GNA11 CDKN2A
6
Show member pathways
12.73 NRAS KIT HRAS GNAQ GNA11
7
Show member pathways
12.56 TP53 NRAS NGFR KIT HRAS
8 12.55 TP53 NGFR KIT HRAS CDKN2A CD274
9 12.45 PRAME MLANA KIT CD34 CD274
10
Show member pathways
12.42 CDKN2A HRAS KIT MITF NF1 NRAS
11
Show member pathways
12.37 TP53 NRAS KIT HRAS
12
Show member pathways
12.35 TP53 NRAS NGFR HRAS
13 12.28 TP53 RASA2 NRAS NF1 HRAS
14
Show member pathways
12.06 TP53 NRAS NGFR HRAS
15 11.88 NRAS NF1 HRAS GNAQ
16 11.86 KIT HRAS GNAQ CDKN2A
17 11.8 NGFR KIT CD34
18
Show member pathways
11.71 NRAS KIT HRAS
19
Show member pathways
11.7 TP53 NRAS HRAS
20 11.7 RASA2 NRAS NGFR NF1 KIT HRAS
21 11.68 NRAS KIT CDKN2A CD34
22 11.66 TLE1 MITF CDKN2A
23
Show member pathways
11.57 NRAS HRAS GNAQ
24 11.57 TP53 NRAS HRAS CDKN2A
25 11.55 TYR TP53 CDKN2A
26
Show member pathways
11.55 NRAS NF1 HRAS
27 11.34 KIT MITF SOX10
28 11.27 TP53 NRAS HRAS CDKN2A
29 11.13 TP53 NRAS HRAS GNAQ GNA11
30
Show member pathways
10.96 RASA2 NRAS NF1 HRAS
31
Show member pathways
10.73 NRAS HRAS
32 10.47 TYR PMEL MLANA MITF GNAQ

GO Terms for Malignant Spindle Cell Melanoma

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.32 TLE1 RASA2 NRAS NGFR NF1 KIT
2 neuron apoptotic process GO:0051402 10.01 HRAS NF1 NGFR TP53
3 positive regulation of gene expression GO:0010628 9.97 CD34 CDKN2A HRAS KIT MITF SOX10
4 neuroblast proliferation GO:0007405 9.95 TP53 SOX10 NF1
5 regulation of cell population proliferation GO:0042127 9.92 HRAS KIT MITF NF1 TP53
6 melanocyte differentiation GO:0030318 9.91 SOX10 MITF KIT
7 fibroblast proliferation GO:0048144 9.86 TP53 NGFR NF1 HRAS
8 entrainment of circadian clock GO:0009649 9.8 GNAQ GNA11
9 mast cell proliferation GO:0070662 9.76 NF1 KIT
10 Ras protein signal transduction GO:0007265 9.65 TP53 NRAS NF1 HRAS CDKN2A
11 pigmentation GO:0043473 9.17 TYR NF1 MITF KIT

Sources for Malignant Spindle Cell Melanoma

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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