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MCID: SPN009
MIFTS: 32

Spindle Cell Rhabdomyosarcoma

Categories: Cancer diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Spindle Cell Rhabdomyosarcoma

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MalaCards integrated aliases for Spindle Cell Rhabdomyosarcoma:

Name: Spindle Cell Rhabdomyosarcoma 12 14 69

Classifications:

MalaCards categories:
Global: Cancer diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:3260
NCIt 46 C6519
SNOMED-CT 64 128749008 404055006
UMLS 69 C1266134
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Summaries for Spindle Cell Rhabdomyosarcoma

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MalaCards based summary : Spindle Cell Rhabdomyosarcoma is related to embryonal rhabdomyosarcoma and rhabdomyosarcoma. An important gene associated with Spindle Cell Rhabdomyosarcoma is MYOD1 (Myogenic Differentiation 1), and among its related pathways/superpathways are Cytoskeleton remodeling Neurofilaments and Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs Cyclophosphamide and Dactinomycin have been mentioned in the context of this disorder. Affiliated tissues include tongue and prostate, and related phenotype is muscle.

Wikipedia : 72 Spindle cell rhabdomyosarcoma is a subtype of embryonal rhabdomyosarcoma first described by Cavazzana,... more...

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Related Diseases for Spindle Cell Rhabdomyosarcoma

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

(show top 50) (show all 85)
# Related Disease Score Top Affiliating Genes
1 embryonal rhabdomyosarcoma 32.1 DES MB MYOD1
2 rhabdomyosarcoma 30.7 DES MB MYOD1
3 cervical polyp 10.3 DES MYOD1
4 gallbladder sarcoma 10.3 DES MYOD1
5 inflammatory leiomyosarcoma 10.3 DES MYOD1
6 horner's syndrome 10.3 DES MYOD1
7 malignant fibrous histiocytoma of bone 10.3 DES MYOD1
8 gliomatosis peritonei 10.3 DES GFAP
9 giant cell myocarditis 10.2 DES MB
10 primitive neuroectodermal tumor of the cervix uteri 10.2 DES GFAP
11 cutaneous leiomyosarcoma 10.2 DES GFAP
12 myofibroma 10.2 DES MB
13 embryonal sarcoma 10.2 DES MYOD1
14 bilateral retinoblastoma 10.2 DES MB
15 adenosarcoma 10.2 DES MB
16 pleomorphic rhabdomyosarcoma 10.2 MB MYOD1
17 granular cell tumor 10.2 DES GFAP
18 adult fibrosarcoma 10.2 MB MYOD1
19 infantile myofibromatosis 10.2 DES MB
20 uterine sarcoma 10.2 DES MB
21 glomangioma 10.1 DES MB
22 neurilemmoma 10.1 DES GFAP
23 skeletal muscle cancer 10.1 MB MYOD1
24 muscle tissue disease 10.1 MB MYOD1
25 histiocytoma 10.0 MB MYOD1
26 leiomyosarcoma 10.0 DES MB
27 spindle cell thymoma 10.0 DES MUC1
28 ossifying fibromyxoid tumor 10.0 DES MUC1
29 biphasic synovial sarcoma 10.0 DES MUC1
30 myxofibrosarcoma 10.0 DES MUC1
31 liposarcoma 10.0 DES MB
32 meninges hemangiopericytoma 10.0 GFAP NCOA2
33 pleomorphic liposarcoma 10.0 DES MUC1
34 ischemic fasciitis 10.0 DES MUC1
35 plasmablastic lymphoma 10.0 DES MUC1
36 proximal spinal muscular atrophy 10.0 DES MUC1
37 perivascular epithelioid cell tumor 10.0 DES MUC1
38 reticulum cell sarcoma 10.0 DES MUC1
39 spindle cell sarcoma 10.0 DES MUC1
40 extraskeletal ewing sarcoma 10.0 DES MUC1
41 hemangiopericytoma, malignant 10.0 DES MUC1
42 benign mesothelioma 10.0 DES MUC1
43 intracranial cysts 9.9 GFAP MUC1
44 fasciitis 9.9 DES MUC1
45 chordoid meningioma 9.9 GFAP MUC1
46 breast rhabdomyosarcoma 9.9 DES MB MYOD1
47 malignant triton tumor 9.9 DES MB MYOD1
48 clear cell meningioma 9.9 GFAP MUC1
49 mesenchymoma 9.9 DES MB MYOD1
50 chordoid glioma 9.9 GFAP MUC1

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



Diseases related to Spindle Cell Rhabdomyosarcoma
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Symptoms & Phenotypes for Spindle Cell Rhabdomyosarcoma

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MGI Mouse Phenotypes related to Spindle Cell Rhabdomyosarcoma:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.92 DES GFAP MB MYOD1
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Drugs & Therapeutics for Spindle Cell Rhabdomyosarcoma

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

(show all 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
2
Dactinomycin Approved, Investigational Phase 3 50-76-0 457193 2019
3
Everolimus Approved Phase 3 159351-69-6 6442177
4
Irinotecan Approved, Investigational Phase 3 97682-44-5, 100286-90-6 60838
5
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
6
Morphine Approved, Investigational Phase 3 57-27-2 5288826
7
Sirolimus Approved, Investigational Phase 3 53123-88-9 46835353 6436030 5284616
8
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
9
Camptothecin Experimental Phase 3 7689-03-4
10 Alkylating Agents Phase 3
11 Anti-Bacterial Agents Phase 3
12 Antibiotics, Antitubercular Phase 3
13 Antifungal Agents Phase 3
14 Anti-Infective Agents Phase 3
15 Antimitotic Agents Phase 3
16 Antineoplastic Agents, Phytogenic Phase 3
17 Antirheumatic Agents Phase 3
18 Immunosuppressive Agents Phase 3
19 Nucleic Acid Synthesis Inhibitors Phase 3
20 topoisomerase I inhibitors Phase 3
21 Topoisomerase Inhibitors Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Combination Chemotherapy With or Without Temsirolimus in Treating Patients With Intermediate Risk Rhabdomyosarcoma Recruiting NCT02567435 Phase 3 Cyclophosphamide;Irinotecan Hydrochloride;Temsirolimus;Vincristine Sulfate
2 Vincristine, Dactinomycin, and Cyclophosphamide With or Without Radiation Therapy in Treating Patients With Newly Diagnosed Low-Risk Rhabdomyosarcoma Active, not recruiting NCT00075582 Phase 3 dactinomycin;cyclophosphamide;vincristine sulfate

Search NIH Clinical Center for Spindle Cell Rhabdomyosarcoma

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Genetic Tests for Spindle Cell Rhabdomyosarcoma

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Anatomical Context for Spindle Cell Rhabdomyosarcoma

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MalaCards organs/tissues related to Spindle Cell Rhabdomyosarcoma:

38
Tongue, Prostate
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Publications for Spindle Cell Rhabdomyosarcoma

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Articles related to Spindle Cell Rhabdomyosarcoma:

(show all 32)
# Title Authors Year
1
Lumbar Intraspinal Spindle Cell Rhabdomyosarcoma as a Rare Cause of Spinal Stenosis: A Case Report. ( 29452297 )
2018
2
Spindle-cell rhabdomyosarcoma of the thumb: Rare site, rare tumor in a child. ( 27502215 )
2016
3
Paratesticular Spindle Cell Rhabdomyosarcoma. ( 26500726 )
2015
4
Spindle cell rhabdomyosarcoma of the retroperitoneum: an unusual case developed in a pregnant woman but obscured by pregnancy. ( 25197361 )
2014
5
Recurrent MYOD1 mutations in pediatric and adult sclerosing and spindle cell rhabdomyosarcomas: evidence for a common pathogenesis. ( 24824843 )
2014
6
Transactivating mutation of the MYOD1 gene is a frequent event in adult spindle cell rhabdomyosarcoma. ( 24272621 )
2014
7
Spindle cell rhabdomyosarcoma in the hypopharynx of an adult. ( 25197406 )
2014
8
An adult spindle cell rhabdomyosarcoma in the head and neck region with long-term survival: a case report. ( 24946859 )
2014
9
An Adult Case of Paratesticular Spindle Cell Rhabdomyosarcoma. ( 26839788 )
2014
10
Spindle cell rhabdomyosarcoma of the prostate. ( 23320845 )
2013
11
Recurrent NCOA2 gene rearrangements in congenital/infantile spindle cell rhabdomyosarcoma. ( 23463663 )
2013
12
Spindle cell rhabdomyosarcoma displaying CD34 positivity: a potential diagnostic pitfall; report of two pediatric cases. ( 24022313 )
2013
13
Spindle cell rhabdomyosarcoma: a brief diagnostic review and differential diagnosis. ( 23899074 )
2013
14
Spindle cell rhabdomyosarcoma of the neck with t(6;8) translocation: report of a case and literature review. ( 23113671 )
2013
15
Exfoliative cytologic findings of maxillary sinus spindle cell rhabdomyosarcoma. ( 20518428 )
2010
16
Aggressive spindle cell rhabdomyosarcoma in an 11-month-old boxer dog. ( 20460837 )
2010
17
Sclerosing spindle cell rhabdomyosarcoma in an adult: report of a new case and review of the literature. ( 19017660 )
2010
18
Unique case of giant adult paratesticular spindle cell rhabdomyosarcoma. ( 19036416 )
2009
19
[Clinicopathologic analysis of spindle cell rhabdomyosarcoma: report of 8 cases]. ( 18646700 )
2008
20
Radiation-induced mandibular adult spindle cell rhabdomyosarcoma. ( 18023143 )
2008
21
Spindle cell rhabdomyosarcoma in adults: clinicopathological and immunohistochemical analysis of seven new cases. ( 17013628 )
2006
22
Kit expression in spindle cell rhabdomyosarcoma can possibly create a different approach for its tumorigenesis and therapy. ( 16860492 )
2006
23
Paratesticular spindle cell rhabdomyosarcoma diagnosed by fine needle aspiration cytology: a case report. ( 15966299 )
2005
24
Spindle cell rhabdomyosarcoma in adults. ( 16006807 )
2005
25
Spindle cell rhabdomyosarcoma of the tongue in an infant: a case report with emphasis on differential diagnosis of childhood spindle cell lesions. ( 15462501 )
2004
26
Spindle-cell rhabdomyosarcoma with 2q36 approximately q37 involvement. ( 12550761 )
2003
27
Paratesticular spindle cell rhabdomyosarcoma in an adult. ( 11458081 )
2001
28
Spindle cell rhabdomyosarcoma in adults. A case report and literature review. ( 10674275 )
2000
29
Cytogenetic study of a spindle-cell rhabdomyosarcoma of the parotid gland. ( 10087951 )
1999
30
Spindle cell rhabdomyosarcoma (so-called) in adults: report of two cases with emphasis on differential diagnosis. ( 9537474 )
1998
31
Spindle cell rhabdomyosarcoma: histologic variant of embryonal rhabdomyosarcoma with association to favorable prognosis. ( 7882713 )
1995
32
Spindle cell rhabdomyosarcoma. A prognostically favorable variant of rhabdomyosarcoma. ( 1599014 )
1992
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Variations for Spindle Cell Rhabdomyosarcoma

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Cosmic variations for Spindle Cell Rhabdomyosarcoma:

9 (show top 50) (show all 52)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)		 Mutation CDS Mutation AA Conf
1 COSM45255 TP53 soft tissue,NS,rhabdomyosarcoma,embryonal c.668C>G p.P223R 5
2 COSM45005 TP53 soft tissue,NS,rhabdomyosarcoma,embryonal c.739A>G p.N247D 5
3 COSM11081 TP53 soft tissue,NS,rhabdomyosarcoma,embryonal c.733G>T p.G245C 5
4 COSM13014 PTPN11 soft tissue,NS,rhabdomyosarcoma,embryonal c.214G>A p.A72T 5
5 COSM13013 PTPN11 soft tissue,NS,rhabdomyosarcoma,embryonal c.205G>A p.E69K 5
6 COSM13016 PTPN11 soft tissue,NS,rhabdomyosarcoma,embryonal c.226G>C p.E76Q 5
7 COSM14271 PTPN11 soft tissue,NS,rhabdomyosarcoma,embryonal c.1508G>T p.G503V 5
8 COSM763 PIK3CA soft tissue,NS,rhabdomyosarcoma,embryonal c.1633G>A p.E545K 5
9 COSM775 PIK3CA soft tissue,NS,rhabdomyosarcoma,embryonal c.3140A>G p.H1047R 5
10 COSM760 PIK3CA soft tissue,NS,rhabdomyosarcoma,embryonal c.1624G>A p.E542K 5
11 COSM580 NRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.181C>A p.Q61K 5
12 COSM585 NRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.183A>T p.Q61H 5
13 COSM574 NRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.38G>T p.G13V 5
14 COSM584 NRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.182A>G p.Q61R 5
15 COSM564 NRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.35G>A p.G12D 5
16 COSM562 NRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.34G>T p.G12C 5
17 COSM569 NRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.37G>C p.G13R 5
18 COSM563 NRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.34G>A p.G12S 5
19 COSM1745010 MYOD1 soft tissue,NS,rhabdomyosarcoma,embryonal c.365T>G p.L122R 5
20 COSM553 KRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.182A>T p.Q61L 5
21 COSM516 KRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.34G>T p.G12C 5
22 COSM521 KRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.35G>A p.G12D 5
23 COSM532 KRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.38G>A p.G13D 5
24 COSM522 KRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.35G>C p.G12A 5
25 COSM486 HRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.37G>C p.G13R 5
26 COSM481 HRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.34G>T p.G12C 5
27 COSM483 HRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.35G>T p.G12V 5
28 COSM480 HRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.34G>A p.G12S 5
29 COSM496 HRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.181C>A p.Q61K 5
30 COSM5702570 FGFR1 soft tissue,NS,rhabdomyosarcoma,embryonal c.1611G>T p.M537I 5
31 COSM5702566 DICER1 soft tissue,NS,rhabdomyosarcoma,embryonal c.2809C>T p.R937C 5
32 COSM3738459 DICER1 soft tissue,NS,rhabdomyosarcoma,embryonal c.5437G>A p.E1813K 5
33 COSM959251 DICER1 soft tissue,NS,rhabdomyosarcoma,embryonal c.5113G>A p.E1705K 5
34 COSM3744763 DICER1 soft tissue,NS,rhabdomyosarcoma,embryonal c.5428G>T p.D1810Y 5
35 COSM3738451 DICER1 soft tissue,NS,rhabdomyosarcoma,embryonal c.5439G>T p.E1813D 5
36 COSM3738549 DICER1 soft tissue,NS,rhabdomyosarcoma,embryonal c.5365-1G>T p.? 5
37 COSM393242 DICER1 soft tissue,NS,rhabdomyosarcoma,embryonal c.2062C>T p.R688* 5
38 COSM4169595 DICER1 soft tissue,NS,rhabdomyosarcoma,embryonal c.5425G>A p.G1809R 5
39 COSM5692 CTNNB1 soft tissue,NS,rhabdomyosarcoma,embryonal c.134C>A p.S45Y 5
40 COSM5664 CTNNB1 soft tissue,NS,rhabdomyosarcoma,embryonal c.121A>G p.T41A 5
41 COSM476 BRAF soft tissue,NS,rhabdomyosarcoma,embryonal c.1799T>A p.V600E 5
42 COSM143842 ALK soft tissue,NS,rhabdomyosarcoma,embryonal c.3673G>A p.D1225N 5
43 COSM1651691 ALK soft tissue,NS,rhabdomyosarcoma,embryonal c.3830T>C p.I1277T 5
44 COSM5702542 ABL2 soft tissue,NS,rhabdomyosarcoma,embryonal c.1045G>T p.V349L 5
45 COSM5702540 soft tissue,NS,rhabdomyosarcoma,embryonal c.1108G>T p.V370L 5
46 COSM5702568 soft tissue,NS,rhabdomyosarcoma,embryonal c.1611G>T p.M537I 5
47 COSM5702571 soft tissue,NS,rhabdomyosarcoma,embryonal c.1611G>T p.M537I 5
48 COSM5702541 soft tissue,NS,rhabdomyosarcoma,embryonal c.1090G>T p.V364L 5
49 COSM5702572 soft tissue,NS,rhabdomyosarcoma,embryonal c.1611G>T p.M537I 5
50 COSM5702539 soft tissue,NS,rhabdomyosarcoma,embryonal c.1153G>T p.V385L 5
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Expression for Spindle Cell Rhabdomyosarcoma

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Search GEO for disease gene expression data for Spindle Cell Rhabdomyosarcoma.
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Pathways for Spindle Cell Rhabdomyosarcoma

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Pathways related to Spindle Cell Rhabdomyosarcoma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Cytoskeleton remodeling Neurofilaments 21
Show member pathways
 11.19 DES GFAP
2
Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers 61
10.94 DES MYOD1
3
Regulation of nuclear SMAD2/3 signaling 1
10.51 MYOD1 NCOA2
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GO Terms for Spindle Cell Rhabdomyosarcoma

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Cellular components related to Spindle Cell Rhabdomyosarcoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intermediate filament cytoskeleton GO:0045111 8.62 DES GFAP

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

# Name GO ID Score Top Affiliating Genes
1 intermediate filament organization GO:0045109 8.62 DES GFAP

Molecular functions related to Spindle Cell Rhabdomyosarcoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 9.16 DES GFAP
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.13 MUC1 MYOD1 NCOA2
3 nuclear hormone receptor binding GO:0035257 8.62 MYOD1 NCOA2
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Sources for Spindle Cell Rhabdomyosarcoma

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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