MCID: SPN009
MIFTS: 32

Spindle Cell Rhabdomyosarcoma

Categories: Cancer diseases, Muscle diseases

Aliases & Classifications for Spindle Cell Rhabdomyosarcoma

MalaCards integrated aliases for Spindle Cell Rhabdomyosarcoma:

Name: Spindle Cell Rhabdomyosarcoma 12 15 74

Classifications:



External Ids:

Disease Ontology 12 DOID:3260
NCIt 51 C6519
UMLS 74 C1266134

Summaries for Spindle Cell Rhabdomyosarcoma

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 Neural Stem Cell Differentiation Pathways and Lineage-specific Markers and Regulation of nuclear SMAD2/3 signaling. The drugs Cyclophosphamide and Dactinomycin have been mentioned in the context of this disorder. Affiliated tissues include bone, prostate and brain.

Wikipedia : 77 Spindle cell rhabdomyosarcoma is a subtype of embryonal rhabdomyosarcoma first described by Cavazzana,... more...

Related Diseases for Spindle Cell Rhabdomyosarcoma

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

(show top 50) (show all 125)
# Related Disease Score Top Affiliating Genes
1 embryonal rhabdomyosarcoma 32.6 DES MB MYOD1
2 rhabdomyosarcoma 31.2 DES MB MYOD1
3 neurofibroma 29.6 MUC1 S100B
4 gallbladder sarcoma 10.3 DES MYOD1
5 liposarcoma 10.3 DES MB
6 inflammatory leiomyosarcoma 10.3 DES MYOD1
7 malignant fibrous histiocytoma of bone 10.3 DES MYOD1
8 horner's syndrome 10.3 DES MYOD1
9 giant cell myocarditis 10.3 DES MB
10 myofibroma 10.2 DES MB
11 breast rhabdomyosarcoma 10.2 MB MYOD1
12 bilateral retinoblastoma 10.2 DES MB
13 gliomatosis peritonei 10.2 DES GFAP
14 primitive neuroectodermal tumor of the cervix uteri 10.2 DES GFAP
15 histiocytoma 10.2 MB MYOD1
16 pleomorphic rhabdomyosarcoma 10.2 MB MYOD1
17 adenosarcoma 10.2 DES MB
18 adult fibrosarcoma 10.2 MB MYOD1
19 rhabdoid cancer 10.2 MB MYOD1
20 gas gangrene 10.2 MB MYOD1
21 infantile myofibromatosis 10.2 DES MB
22 uterine sarcoma 10.2 DES MB
23 meninges sarcoma 10.2 GFAP MB
24 myxofibrosarcoma 10.2 DES S100B
25 fibrous histiocytoma 10.1 DES S100B
26 juvenile xanthogranuloma 10.1 DES S100B
27 cutaneous fibrous histiocytoma 10.1 DES S100B
28 skeletal muscle cancer 10.1 MB MYOD1
29 papillary ependymoma 10.1 GFAP S100B
30 muscle tissue disease 10.1 MB MYOD1
31 gemistocytic astrocytoma 10.1 GFAP S100B
32 dysembryoplastic neuroepithelial tumor 10.1 GFAP S100B
33 angiocentric glioma 10.0 GFAP S100B
34 extraosseous ewing's sarcoma 10.0 MYOD1 S100B
35 spindle cell thymoma 10.0 DES MUC1
36 pineocytoma 10.0 GFAP S100B
37 botryoid rhabdomyosarcoma 10.0 DES MB MYOD1
38 mesenchymoma 10.0 DES MB MYOD1
39 malignant mesenchymoma 10.0 DES MB MYOD1
40 biphasic synovial sarcoma 10.0 DES MUC1
41 muscle cancer 10.0 DES MB MYOD1
42 alveolar soft part sarcoma 10.0 DES MB MYOD1
43 rhabdomyosarcoma 2 10.0 DES MB MYOD1
44 acute mountain sickness 10.0 MB S100B
45 subependymal giant cell astrocytoma 10.0 GFAP S100B
46 traumatic brain injury 10.0 GFAP S100B
47 desmoplastic small round cell tumor 10.0 DES MUC1
48 perivascular epithelioid cell tumor 10.0 DES MUC1
49 brain injury 10.0 GFAP S100B
50 ischemic fasciitis 10.0 DES MUC1

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



Diseases related to Spindle Cell Rhabdomyosarcoma

Symptoms & Phenotypes for Spindle Cell Rhabdomyosarcoma

Drugs & Therapeutics for Spindle Cell Rhabdomyosarcoma

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

(show all 25)
# 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
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
4
Irinotecan Approved, Investigational Phase 3 100286-90-6, 97682-44-5 60838
5
Everolimus Approved Phase 3 159351-69-6 70789204 6442177
6
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
7
Sirolimus Approved, Investigational Phase 3 53123-88-9 46835353 5284616 6436030
8
Vinorelbine Approved, Investigational Phase 3 71486-22-1 44424639 60780
9
Morphine Approved, Investigational Phase 3 57-27-2 5288826
10
Camptothecin Experimental Phase 3 7689-03-4
11
Emodepside Investigational, Vet_approved Phase 3 155030-63-0
12 Antibiotics, Antitubercular Phase 3
13 Immunologic Factors Phase 3
14 Antimitotic Agents Phase 3
15 Alkylating Agents Phase 3
16 Antineoplastic Agents, Alkylating Phase 3
17 Anti-Infective Agents Phase 3
18 Immunosuppressive Agents Phase 3
19 Nucleic Acid Synthesis Inhibitors Phase 3
20 Antineoplastic Agents, Phytogenic Phase 3
21 Anti-Bacterial Agents Phase 3
22 Antirheumatic Agents Phase 3
23 topoisomerase I inhibitors Phase 3
24 Topoisomerase Inhibitors Phase 3
25 Antifungal Agents Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Vincristine, Dactinomycin, and Cyclophosphamide With or Without Radiation Therapy in Treating Patients With Newly Diagnosed Low-Risk Rhabdomyosarcoma Unknown status NCT00075582 Phase 3 dactinomycin;cyclophosphamide;vincristine sulfate
2 Combination Chemotherapy With or Without Temsirolimus in Treating Patients With Intermediate Risk Rhabdomyosarcoma Recruiting NCT02567435 Phase 3 Cyclophosphamide;Irinotecan Hydrochloride;Temsirolimus;Vincristine Sulfate;Vinorelbine

Search NIH Clinical Center for Spindle Cell Rhabdomyosarcoma

Genetic Tests for Spindle Cell Rhabdomyosarcoma

Anatomical Context for Spindle Cell Rhabdomyosarcoma

MalaCards organs/tissues related to Spindle Cell Rhabdomyosarcoma:

42
Bone, Prostate, Brain, Pituitary, Tongue, Skeletal Muscle, Cervix

Publications for Spindle Cell Rhabdomyosarcoma

Articles related to Spindle Cell Rhabdomyosarcoma:

(show all 36)
# Title Authors Year
1
Spindle cell rhabdomyosarcoma in a lumbar vertebra with FUS-TFCP2 fusion. ( 30948206 )
2019
2
Beyond "Triton": Malignant Peripheral Nerve Sheath Tumors With Complete Heterologous Rhabdomyoblastic Differentiation Mimicking Spindle Cell Rhabdomyosarcoma. ( 31107719 )
2019
3
Combined Sclerosing and Spindle Cell Rhabdomyosarcoma in Previous Craniotomy Site: A Case Report and a Review of the Literature. ( 30270691 )
2019
4
Spindle cell rhabdomyosarcoma of the anterior mandible manifesting as a periapical lesion of pulpal origin: Case report. ( 29665230 )
2018
5
Spindle cell rhabdomyosarcoma of bone with FUS-TFCP2 fusion: confirmation of a very recently described rhabdomyosarcoma subtype. ( 29758589 )
2018
6
Lumbar Intraspinal Spindle Cell Rhabdomyosarcoma as a Rare Cause of Spinal Stenosis: A Case Report. ( 29452297 )
2018
7
Spindle-cell rhabdomyosarcoma of the thumb: Rare site, rare tumor in a child. ( 27502215 )
2016
8
Paratesticular Spindle Cell Rhabdomyosarcoma. ( 26500726 )
2015
9
Spindle cell rhabdomyosarcoma of the retroperitoneum: an unusual case developed in a pregnant woman but obscured by pregnancy. ( 25197361 )
2014
10
Spindle cell rhabdomyosarcoma in the hypopharynx of an adult. ( 25197406 )
2014
11
An adult spindle cell rhabdomyosarcoma in the head and neck region with long-term survival: a case report. ( 24946859 )
2014
12
An Adult Case of Paratesticular Spindle Cell Rhabdomyosarcoma. ( 26839788 )
2014
13
Transactivating mutation of the MYOD1 gene is a frequent event in adult spindle cell rhabdomyosarcoma. ( 24272621 )
2014
14
Spindle cell rhabdomyosarcoma: a brief diagnostic review and differential diagnosis. ( 23899074 )
2013
15
Spindle cell rhabdomyosarcoma displaying CD34 positivity: a potential diagnostic pitfall; report of two pediatric cases. ( 24022313 )
2013
16
Spindle cell rhabdomyosarcoma of the neck with t(6;8) translocation: report of a case and literature review. ( 23113671 )
2013
17
Spindle cell rhabdomyosarcoma of the prostate. ( 23320845 )
2013
18
Recurrent NCOA2 gene rearrangements in congenital/infantile spindle cell rhabdomyosarcoma. ( 23463663 )
2013
19
Aggressive spindle cell rhabdomyosarcoma in an 11-month-old boxer dog. ( 20460837 )
2010
20
Exfoliative cytologic findings of maxillary sinus spindle cell rhabdomyosarcoma. ( 20518428 )
2010
21
Sclerosing spindle cell rhabdomyosarcoma in an adult: report of a new case and review of the literature. ( 19017660 )
2010
22
Unique case of giant adult paratesticular spindle cell rhabdomyosarcoma. ( 19036416 )
2009
23
Radiation-induced mandibular adult spindle cell rhabdomyosarcoma. ( 18023143 )
2008
24
[Clinicopathologic analysis of spindle cell rhabdomyosarcoma: report of 8 cases]. ( 18646700 )
2008
25
Kit expression in spindle cell rhabdomyosarcoma can possibly create a different approach for its tumorigenesis and therapy. ( 16860492 )
2006
26
Spindle cell rhabdomyosarcoma in adults: clinicopathological and immunohistochemical analysis of seven new cases. ( 17013628 )
2006
27
Paratesticular spindle cell rhabdomyosarcoma diagnosed by fine needle aspiration cytology: a case report. ( 15966299 )
2005
28
Spindle cell rhabdomyosarcoma in adults. ( 16006807 )
2005
29
Spindle cell rhabdomyosarcoma of the tongue in an infant: a case report with emphasis on differential diagnosis of childhood spindle cell lesions. ( 15462501 )
2004
30
Spindle-cell rhabdomyosarcoma with 2q36 approximately q37 involvement. ( 12550761 )
2003
31
Paratesticular spindle cell rhabdomyosarcoma in an adult. ( 11458081 )
2001
32
Spindle cell rhabdomyosarcoma in adults. A case report and literature review. ( 10674275 )
2000
33
Cytogenetic study of a spindle-cell rhabdomyosarcoma of the parotid gland. ( 10087951 )
1999
34
Spindle cell rhabdomyosarcoma (so-called) in adults: report of two cases with emphasis on differential diagnosis. ( 9537474 )
1998
35
Spindle cell rhabdomyosarcoma: histologic variant of embryonal rhabdomyosarcoma with association to favorable prognosis. ( 7882713 )
1995
36
Spindle cell rhabdomyosarcoma. A prognostically favorable variant of rhabdomyosarcoma. ( 1599014 )
1992

Variations for Spindle Cell Rhabdomyosarcoma

Cosmic variations for Spindle Cell Rhabdomyosarcoma:

9 (show top 50) (show all 112)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM45255 TP53 soft tissue,NS,rhabdomyosarcoma,embryonal c.668C>G p.P223R 17:7674863-7674863 0
2 COSM45005 TP53 soft tissue,NS,rhabdomyosarcoma,embryonal c.739A>G p.N247D 17:7674224-7674224 0
3 COSM11081 TP53 soft tissue,NS,rhabdomyosarcoma,embryonal c.733G>T p.G245C 17:7674230-7674230 0
4 COSM10662 TP53 soft tissue,NS,rhabdomyosarcoma,embryonal c.743G>A p.R248Q 17:7674220-7674220 0
5 COSM10654 TP53 soft tissue,NS,rhabdomyosarcoma,embryonal c.637C>T p.R213* 17:7674894-7674894 0
6 COSM44720 TP53 soft tissue,NS,rhabdomyosarcoma,embryonal c.961A>T p.K321* 17:7673567-7673567 0
7 COSM6932 TP53 soft tissue,NS,rhabdomyosarcoma,embryonal c.733G>A p.G245S 17:7674230-7674230 0
8 COSM6986214 SOX9 soft tissue,NS,rhabdomyosarcoma,embryonal c.76A>G p.M26V 17:72121467-72121467 0
9 COSM6986215 PTPRT soft tissue,NS,rhabdomyosarcoma,embryonal c.2277G>T p.Q759H 20:42248779-42248779 0
10 COSM13016 PTPN11 soft tissue,NS,rhabdomyosarcoma,embryonal c.226G>C p.E76Q 12:112450406-112450406 0
11 COSM14271 PTPN11 soft tissue,NS,rhabdomyosarcoma,embryonal c.1508G>T p.G503V 12:112489084-112489084 0
12 COSM13014 PTPN11 soft tissue,NS,rhabdomyosarcoma,embryonal c.214G>A p.A72T 12:112450394-112450394 0
13 COSM13013 PTPN11 soft tissue,NS,rhabdomyosarcoma,embryonal c.205G>A p.E69K 12:112450385-112450385 0
14 COSM6986208 PTCH1 soft tissue,NS,rhabdomyosarcoma,embryonal c.208G>A p.A70T 9:95506593-95506593 0
15 COSM6910708 POLE soft tissue,NS,rhabdomyosarcoma,embryonal c.5975G>C p.C1992S 12:132634215-132634215 0
16 COSM1083818 PIK3CG soft tissue,NS,rhabdomyosarcoma,embryonal c.2638G>A p.E880K 7:106883041-106883041 0
17 COSM763 PIK3CA soft tissue,NS,rhabdomyosarcoma,embryonal c.1633G>A p.E545K 3:179218303-179218303 0
18 COSM775 PIK3CA soft tissue,NS,rhabdomyosarcoma,embryonal c.3140A>G p.H1047R 3:179234297-179234297 0
19 COSM760 PIK3CA soft tissue,NS,rhabdomyosarcoma,embryonal c.1624G>A p.E542K 3:179218294-179218294 0
20 COSM6914067 PDGFRA soft tissue,NS,rhabdomyosarcoma,embryonal c.3195G>C p.E1065D 4:54295197-54295197 0
21 COSM6964921 NTRK3 soft tissue,NS,rhabdomyosarcoma,embryonal c.492C>A p.C164* 15:88137534-88137534 0
22 COSM580 NRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.181C>A p.Q61K 1:114713909-114713909 0
23 COSM574 NRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.38G>T p.G13V 1:114716123-114716123 0
24 COSM584 NRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.182A>G p.Q61R 1:114713908-114713908 0
25 COSM585 NRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.183A>T p.Q61H 1:114713907-114713907 0
26 COSM564 NRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.35G>A p.G12D 1:114716126-114716126 0
27 COSM569 NRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.37G>C p.G13R 1:114716124-114716124 0
28 COSM563 NRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.34G>A p.G12S 1:114716127-114716127 0
29 COSM562 NRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.34G>T p.G12C 1:114716127-114716127 0
30 COSM6910706 NOTCH1 soft tissue,NS,rhabdomyosarcoma,embryonal c.3277T>C p.Y1093H 9:136508280-136508280 0
31 COSM6933086 NF1 soft tissue,NS,rhabdomyosarcoma,embryonal c.7870G>C p.A2624P 17:31357269-31357269 0
32 COSM1745010 MYOD1 soft tissue,NS,rhabdomyosarcoma,embryonal c.365T>G p.L122R 11:17720147-17720147 0
33 COSM516 KRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.34G>T p.G12C 12:25245351-25245351 0
34 COSM521 KRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.35G>A p.G12D 12:25245350-25245350 0
35 COSM532 KRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.38G>A p.G13D 12:25245347-25245347 0
36 COSM522 KRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.35G>C p.G12A 12:25245350-25245350 0
37 COSM553 KRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.182A>T p.Q61L 12:25227342-25227342 0
38 COSM6930430 KMT2D soft tissue,NS,rhabdomyosarcoma,embryonal c.1291G>T p.E431* 12:49052392-49052392 0
39 COSM2965310 KDM6A soft tissue,NS,rhabdomyosarcoma,embryonal c.493C>T p.R165* 23:45020659-45020659 0
40 COSM496 HRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.181C>A p.Q61K 11:533875-533875 0
41 COSM486 HRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.37G>C p.G13R 11:534286-534286 0
42 COSM483 HRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.35G>T p.G12V 11:534288-534288 0
43 COSM481 HRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.34G>T p.G12C 11:534289-534289 0
44 COSM480 HRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.34G>A p.G12S 11:534289-534289 0
45 COSM5702570 FGFR1 soft tissue,NS,rhabdomyosarcoma,embryonal c.1611G>T p.M537I 8:38417358-38417358 0
46 COSM1251469 ERCC5 soft tissue,NS,rhabdomyosarcoma,embryonal c.3256G>A p.G1086R 13:102875598-102875598 0
47 COSM959251 DICER1 soft tissue,NS,rhabdomyosarcoma,embryonal c.5113G>A p.E1705K 14:95094139-95094139 0
48 COSM3744763 DICER1 soft tissue,NS,rhabdomyosarcoma,embryonal c.5428G>T p.D1810Y 14:95091302-95091302 0
49 COSM3738451 DICER1 soft tissue,NS,rhabdomyosarcoma,embryonal c.5439G>T p.E1813D 14:95091291-95091291 0
50 COSM3738549 DICER1 soft tissue,NS,rhabdomyosarcoma,embryonal c.5365-1G>T p.? 14:95091366-95091366 0

Expression for Spindle Cell Rhabdomyosarcoma

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

Pathways for Spindle Cell Rhabdomyosarcoma

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

# Super pathways Score Top Affiliating Genes
1 10.85 GFAP S100B
2 10.51 MYOD1 NCOA2

GO Terms for Spindle Cell Rhabdomyosarcoma

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 long-term synaptic potentiation GO:0060291 8.96 GFAP S100B
2 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 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.13 MUC1 MYOD1 NCOA2
2 nuclear hormone receptor binding GO:0035257 8.62 MYOD1 NCOA2

Sources for Spindle Cell Rhabdomyosarcoma

3 CDC
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11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
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34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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45 MeSH
46 MESH via Orphanet
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70 SNOMED-CT via HPO
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