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MCID: SPN009
MIFTS: 28

Spindle Cell Rhabdomyosarcoma malady

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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Aliases & Descriptions 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 47 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 Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers and Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs Everolimus and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include tongue and prostate, and related phenotype is muscle.

Wikipedia : 71 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 124)
id Related Disease Score Top Affiliating Genes
1 embryonal rhabdomyosarcoma 11.4
2 rhabdomyosarcoma 10.5
3 ectopic pregnancy 10.2 DES MYOD1
4 testis sarcoma 10.2 DES MYOD1
5 cardiac tamponade 10.2 DES MYOD1
6 extraosseous osteosarcoma 10.2 DES MYOD1
7 glaucoma iridogoniodysgenesia 10.2 DES MB
8 reticulohistiocytic granuloma 10.2 DES MB
9 foix-alajouanine syndrome 10.2 DES S100B
10 extracutaneous mastocytoma 10.2 DES MB
11 cavernous sinus meningioma 10.2 DES S100B
12 dyslexia 10.2 DES S100B
13 rectal neoplasm 10.2 DES MB
14 t-cell childhood lymphoblastic lymphoma 10.2 DES MB
15 brain stem infarction 10.2 MB MYOD1
16 invasive malignant thymoma 10.2 DES MUC1
17 marfanoid hypermobility syndrome 10.2 DES MUC1
18 tanycytic ependymoma 10.1 DES MUC1
19 endodermal sinus tumor 10.1 MB MYOD1
20 glomerulonephritis 10.1 MB MYOD1
21 petrous apex meningioma 10.1 DES MUC1
22 episodic ataxia 10.1 DES MUC1
23 polydactyly cleft lip palate psychomotor retardation 10.1 DES MUC1
24 coronary stenosis 10.1 DES MUC1
25 van regemorter pierquin vamos syndrome 10.1 DES MB
26 sebaceous adenoma 10.1 DES MUC1
27 anal gland neoplasm 10.1 DES MUC1
28 pseudohermaphrodism anorectal anomalies 10.1 DES MUC1
29 omodysplasia 2 10.1 DES MUC1
30 congenital muscular dystrophy with hyperlaxity 10.1 DES MUC1
31 hyperpituitarism 10.1 DES MB
32 lucey-driscoll syndrome 10.1 MUC1 S100B
33 secondary pulmonary hemosiderosis 10.1 MUC1 S100B
34 invasive mole 10.1 MUC1 S100B
35 pemphigus vegetans 10.1 MUC1 S100B
36 postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma 10.1 MUC1 S100B
37 corneal intraepithelial neoplasm 10.1 MUC1 S100B
38 orthostatic proteinuria 10.1 DES MUC1
39 subglottis verrucous carcinoma 10.1 MUC1 S100B
40 conjunctival cancer 10.1 MUC1 S100B
41 clear cell ependymoma 10.1 MUC1 S100B
42 endocardium cancer 10.1 MUC1 S100B
43 precursor t-lymphoblastic lymphoma/leukemia 10.1 MUC1 S100B
44 kidney sarcoma 10.1 MYOD1 S100B
45 scirrhous adenocarcinoma 10.1 DES MUC1
46 glucosidase acid-1,4-alpha deficiency 10.1 DES GFAP
47 pulmonary neuroendocrine tumor 10.1 MUC1 S100B
48 uterine corpus leiomyomatosis 10.1 MUC1 S100B
49 gastrointestinal system cancer 10.1 MUC1 S100B
50 neutrophil immunodeficiency syndrome 10.1 DES S100B

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:

44
id 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 27)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Everolimus Approved Phase 3,Phase 1,Phase 2 159351-69-6 6442177
2
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 1,Phase 2 22916-47-8 4189
3
Sirolimus Approved, Investigational Phase 3,Phase 1,Phase 2 53123-88-9 5284616 6436030 46835353
4
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
5
Dactinomycin Approved Phase 3 50-76-0 2019 457193
6
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
7
Irinotecan Approved, Investigational Phase 3 97682-44-5, 100286-90-6 60838
8
Morphine Approved, Investigational Phase 3 57-27-2 5288826
9
Camptothecin Experimental Phase 3 7689-03-4
10 Anti-Bacterial Agents Phase 3,Phase 1,Phase 2
11 Antibiotics, Antitubercular Phase 3,Phase 1,Phase 2
12 Anti-Infective Agents Phase 3,Phase 1,Phase 2
13 Immunosuppressive Agents Phase 3,Phase 1,Phase 2
14 Antifungal Agents Phase 3,Phase 1,Phase 2
15 Topoisomerase Inhibitors Phase 3,Phase 1,Phase 2
16 Antimitotic Agents Phase 3,Phase 1,Phase 2
17 Antineoplastic Agents, Phytogenic Phase 3,Phase 1,Phase 2
18 Alkylating Agents Phase 3
19 Antineoplastic Agents, Alkylating Phase 3
20 Antirheumatic Agents Phase 3
21 Nucleic Acid Synthesis Inhibitors Phase 3
22 topoisomerase I inhibitors Phase 3
23
Doxorubicin Approved, Investigational Phase 1, Phase 2 23214-92-8 31703
24
Paclitaxel Approved, Vet_approved Phase 1, Phase 2 33069-62-4 36314
25
Doxil Approved June 1999 Phase 1, Phase 2 31703
26 Albumin-Bound Paclitaxel Phase 1, Phase 2
27 taxane Phase 1, Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 Vincristine, Dactinomycin, and Cyclophosphamide With or Without Radiation Therapy in Treating Patients With Newly Diagnosed Low-Risk Rhabdomyosarcoma Active, not recruiting NCT00075582 Phase 3
2 Combination Chemotherapy With or Without Temsirolimus in Treating Patients With Intermediate Risk Rhabdomyosarcoma Suspended NCT02567435 Phase 3
3 Safety and Efficacy Study of Torisel and Liposomal Doxorubicin for Patients With Recurrent Sarcoma Completed NCT00949325 Phase 1, Phase 2
4 To Find a Safe Dose and Show Early Clinical Activity of Weekly Nab-paclitaxel in Pediatric Patients With Recurrent/ Refractory Solid Tumors Recruiting NCT01962103 Phase 1, Phase 2

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:

39
Tongue, Prostate
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Publications for Spindle Cell Rhabdomyosarcoma

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Articles related to Spindle Cell Rhabdomyosarcoma:

(show all 31)
id Title Authors Year
1
Spindle-cell rhabdomyosarcoma of the thumb: Rare site, rare tumor in a child. ( 27502215 )
2016
2
Paratesticular Spindle Cell Rhabdomyosarcoma. ( 26500726 )
2015
3
Spindle cell rhabdomyosarcoma of the retroperitoneum: an unusual case developed in a pregnant woman but obscured by pregnancy. ( 25197361 )
2014
4
Spindle cell rhabdomyosarcoma in the hypopharynx of an adult. ( 25197406 )
2014
5
An Adult Case of Paratesticular Spindle Cell Rhabdomyosarcoma. ( 26839788 )
2014
6
An adult spindle cell rhabdomyosarcoma in the head and neck region with long-term survival: a case report. ( 24946859 )
2014
7
Transactivating mutation of the MYOD1 gene is a frequent event in adult spindle cell rhabdomyosarcoma. ( 24272621 )
2014
8
Recurrent MYOD1 mutations in pediatric and adult sclerosing and spindle cell rhabdomyosarcomas: evidence for a common pathogenesis. ( 24824843 )
2014
9
Spindle cell rhabdomyosarcoma displaying CD34 positivity: a potential diagnostic pitfall; report of two pediatric cases. ( 24022313 )
2013
10
Spindle cell rhabdomyosarcoma: a brief diagnostic review and differential diagnosis. ( 23899074 )
2013
11
Recurrent NCOA2 gene rearrangements in congenital/infantile spindle cell rhabdomyosarcoma. ( 23463663 )
2013
12
Spindle cell rhabdomyosarcoma of the neck with t(6;8) translocation: report of a case and literature review. ( 23113671 )
2013
13
Spindle cell rhabdomyosarcoma of the prostate. ( 23320845 )
2013
14
Exfoliative cytologic findings of maxillary sinus spindle cell rhabdomyosarcoma. ( 20518428 )
2010
15
Aggressive spindle cell rhabdomyosarcoma in an 11-month-old boxer dog. ( 20460837 )
2010
16
Sclerosing spindle cell rhabdomyosarcoma in an adult: report of a new case and review of the literature. ( 19017660 )
2010
17
Unique case of giant adult paratesticular spindle cell rhabdomyosarcoma. ( 19036416 )
2009
18
Radiation-induced mandibular adult spindle cell rhabdomyosarcoma. ( 18023143 )
2008
19
[Clinicopathologic analysis of spindle cell rhabdomyosarcoma: report of 8 cases]. ( 18646700 )
2008
20
Kit expression in spindle cell rhabdomyosarcoma can possibly create a different approach for its tumorigenesis and therapy. ( 16860492 )
2006
21
Spindle cell rhabdomyosarcoma in adults: clinicopathological and immunohistochemical analysis of seven new cases. ( 17013628 )
2006
22
Spindle cell rhabdomyosarcoma in adults. ( 16006807 )
2005
23
Paratesticular spindle cell rhabdomyosarcoma diagnosed by fine needle aspiration cytology: a case report. ( 15966299 )
2005
24
Spindle cell rhabdomyosarcoma of the tongue in an infant: a case report with emphasis on differential diagnosis of childhood spindle cell lesions. ( 15462501 )
2004
25
Spindle-cell rhabdomyosarcoma with 2q36 approximately q37 involvement. ( 12550761 )
2003
26
Paratesticular spindle cell rhabdomyosarcoma in an adult. ( 11458081 )
2001
27
Spindle cell rhabdomyosarcoma in adults. A case report and literature review. ( 10674275 )
2000
28
Cytogenetic study of a spindle-cell rhabdomyosarcoma of the parotid gland. ( 10087951 )
1999
29
Spindle cell rhabdomyosarcoma (so-called) in adults: report of two cases with emphasis on differential diagnosis. ( 9537474 )
1998
30
Spindle cell rhabdomyosarcoma: histologic variant of embryonal rhabdomyosarcoma with association to favorable prognosis. ( 7882713 )
1995
31
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 all 42)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)		 Mutation CDS Mutation AA Conf
1 COSM11081 TP53 soft tissue,NS,rhabdomyosarcoma,embryonal c.733G>T p.G245C 5
2 COSM45255 TP53 soft tissue,NS,rhabdomyosarcoma,embryonal c.668C>G p.P223R 5
3 COSM45005 TP53 soft tissue,NS,rhabdomyosarcoma,embryonal c.739A>G p.N247D 5
4 COSM13016 PTPN11 soft tissue,NS,rhabdomyosarcoma,embryonal c.226G>C p.E76Q 5
5 COSM13014 PTPN11 soft tissue,NS,rhabdomyosarcoma,embryonal c.214G>A p.A72T 5
6 COSM14271 PTPN11 soft tissue,NS,rhabdomyosarcoma,embryonal c.1508G>T p.G503V 5
7 COSM13013 PTPN11 soft tissue,NS,rhabdomyosarcoma,embryonal c.205G>A p.E69K 5
8 COSM775 PIK3CA soft tissue,NS,rhabdomyosarcoma,embryonal c.3140A>G p.H1047R 5
9 COSM763 PIK3CA soft tissue,NS,rhabdomyosarcoma,embryonal c.1633G>A p.E545K 5
10 COSM760 PIK3CA soft tissue,NS,rhabdomyosarcoma,embryonal c.1624G>A p.E542K 5
11 COSM585 NRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.183A>T p.Q61H 5
12 COSM584 NRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.182A>G p.Q61R 5
13 COSM564 NRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.35G>A p.G12D 5
14 COSM580 NRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.181C>A p.Q61K 5
15 COSM574 NRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.38G>T p.G13V 5
16 COSM569 NRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.37G>C p.G13R 5
17 COSM562 NRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.34G>T p.G12C 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 COSM521 KRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.35G>A p.G12D 5
21 COSM516 KRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.34G>T p.G12C 5
22 COSM553 KRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.182A>T p.Q61L 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 COSM483 HRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.35G>T p.G12V 5
26 COSM480 HRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.34G>A p.G12S 5
27 COSM496 HRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.181C>A p.Q61K 5
28 COSM486 HRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.37G>C p.G13R 5
29 COSM481 HRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.34G>T p.G12C 5
30 COSM3744763 DICER1 soft tissue,NS,rhabdomyosarcoma,embryonal c.5428G>T p.D1810Y 5
31 COSM959251 DICER1 soft tissue,NS,rhabdomyosarcoma,embryonal c.5113G>A p.E1705K 5
32 COSM3738459 DICER1 soft tissue,NS,rhabdomyosarcoma,embryonal c.5437G>A p.E1813K 5
33 COSM4169595 DICER1 soft tissue,NS,rhabdomyosarcoma,embryonal c.5425G>A p.G1809R 5
34 COSM3738549 DICER1 soft tissue,NS,rhabdomyosarcoma,embryonal c.5365-1G>T p.? 5
35 COSM3738451 DICER1 soft tissue,NS,rhabdomyosarcoma,embryonal c.5439G>T p.E1813D 5
36 COSM393242 DICER1 soft tissue,NS,rhabdomyosarcoma,embryonal c.2062C>T p.R688* 5
37 COSM5664 CTNNB1 soft tissue,NS,rhabdomyosarcoma,embryonal c.121A>G p.T41A 5
38 COSM5692 CTNNB1 soft tissue,NS,rhabdomyosarcoma,embryonal c.134C>A p.S45Y 5
39 COSM476 BRAF soft tissue,NS,rhabdomyosarcoma,embryonal c.1799T>A p.V600E 5
40 COSM1651691 ALK soft tissue,NS,rhabdomyosarcoma,embryonal c.3830T>C p.I1277T 5
41 COSM143842 ALK soft tissue,NS,rhabdomyosarcoma,embryonal c.3673G>A p.D1225N 5
42 COSM99938 soft tissue,NS,rhabdomyosarcoma,embryonal c.37G>C p.G13R 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:

id Super pathways Score Top Affiliating Genes
1
Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers 61
10.94 DES MYOD1
2
Neural Stem Cell Differentiation Pathways and Lineage-specific Markers 61
10.53 GFAP S100B
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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:

id Name GO ID Score Top Affiliating Genes
1 intermediate filament cytoskeleton GO:0045111 8.62 DES GFAP
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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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 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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