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 73

Classifications:



External Ids:

Disease Ontology 12 DOID:3260
NCIt 50 C6519
SNOMED-CT 68 128749008 404055006
UMLS 73 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 tongue, prostate and bone.

Wikipedia : 76 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 128)
# Related Disease Score Top Affiliating Genes
1 embryonal rhabdomyosarcoma 32.3 DES MB MYOD1
2 rhabdomyosarcoma 30.9 DES MB MYOD1
3 cervical polyp 10.6 DES MYOD1
4 gallbladder sarcoma 10.6 DES MYOD1
5 inflammatory leiomyosarcoma 10.6 DES MYOD1
6 horner's syndrome 10.6 DES MYOD1
7 malignant fibrous histiocytoma of bone 10.6 DES MYOD1
8 giant cell myocarditis 10.6 DES MB
9 myofibroma 10.5 DES MB
10 bilateral retinoblastoma 10.5 DES MB
11 adenosarcoma 10.5 DES MB
12 pleomorphic rhabdomyosarcoma 10.5 MB MYOD1
13 spindle cell thymoma 10.5 DES MUC1
14 adult fibrosarcoma 10.5 MB MYOD1
15 biphasic synovial sarcoma 10.5 DES MUC1
16 ovarian small cell carcinoma 10.4 DES MUC1
17 infantile myofibromatosis 10.4 DES MB
18 ischemic fasciitis 10.4 DES MUC1
19 desmoplastic small round cell tumor 10.4 DES MUC1
20 proximal spinal muscular atrophy 10.4 DES MUC1
21 uterine sarcoma 10.4 DES MB
22 perivascular epithelioid cell tumor 10.4 DES MUC1
23 reticulum cell sarcoma 10.4 DES MUC1
24 glomangioma 10.4 DES MB
25 dedifferentiated liposarcoma 10.4 DES MUC1
26 extraskeletal ewing sarcoma 10.4 DES MUC1
27 plasmablastic lymphoma 10.4 DES MUC1
28 gliomatosis peritonei 10.4 DES GFAP
29 primitive neuroectodermal tumor of the cervix uteri 10.4 DES GFAP
30 fasciitis 10.3 DES MUC1
31 spindle cell carcinoma 10.3 DES MUC1
32 skeletal muscle cancer 10.3 MB MYOD1
33 pericardial mesothelioma 10.3 MB MUC1
34 muscle tissue disease 10.2 MB MYOD1
35 epithelioid sarcoma 10.2 MB MUC1
36 histiocytoma 10.2 MB MYOD1
37 cavernous hemangioma 10.2 MB MUC1
38 clear cell meningioma 10.2 GFAP MUC1
39 giant cell tumor 10.1 DES MUC1
40 breast rhabdomyosarcoma 10.1 DES MB MYOD1
41 myxofibrosarcoma 10.1 DES S100B
42 botryoid rhabdomyosarcoma 10.1 DES MB MYOD1
43 mesenchymoma 10.1 DES MB MYOD1
44 liposarcoma 10.1 DES MB
45 malignant mesenchymoma 10.1 DES MB MYOD1
46 muscle cancer 10.1 DES MB MYOD1
47 alveolar soft part sarcoma 10.1 DES MB MYOD1
48 rhabdomyosarcoma 2 10.1 DES MB MYOD1
49 juvenile xanthogranuloma 10.1 DES S100B
50 sarcoma, synovial 10.1 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 22)
# 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 2019 457193
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 5284616 6436030 46835353
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, Alkylating Phase 3
17 Antineoplastic Agents, Phytogenic Phase 3
18 Antirheumatic Agents Phase 3
19 Immunosuppressive Agents Phase 3
20 Nucleic Acid Synthesis Inhibitors Phase 3
21 topoisomerase I inhibitors Phase 3
22 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

Genetic Tests for Spindle Cell Rhabdomyosarcoma

Anatomical Context for Spindle Cell Rhabdomyosarcoma

MalaCards organs/tissues related to Spindle Cell Rhabdomyosarcoma:

41
Tongue, Prostate, Bone

Publications for Spindle Cell Rhabdomyosarcoma

Articles related to Spindle Cell Rhabdomyosarcoma:

(show all 34)
# Title Authors Year
1
Spindle cell rhabdomyosarcoma of bone with FUS-TFCP2 fusion: confirmation of a very recently described rhabdomyosarcoma subtype. ( 29758589 )
2018
2
Spindle cell rhabdomyosarcoma of the anterior mandible manifesting as a periapical lesion of pulpal origin: Case report. ( 29665230 )
2018
3
Lumbar Intraspinal Spindle Cell Rhabdomyosarcoma as a Rare Cause of Spinal Stenosis: A Case Report. ( 29452297 )
2018
4
Spindle-cell rhabdomyosarcoma of the thumb: Rare site, rare tumor in a child. ( 27502215 )
2016
5
Paratesticular Spindle Cell Rhabdomyosarcoma. ( 26500726 )
2015
6
An adult spindle cell rhabdomyosarcoma in the head and neck region with long-term survival: a case report. ( 24946859 )
2014
7
Spindle cell rhabdomyosarcoma of the retroperitoneum: an unusual case developed in a pregnant woman but obscured by pregnancy. ( 25197361 )
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 in the hypopharynx of an adult. ( 25197406 )
2014
10
An Adult Case of Paratesticular Spindle Cell Rhabdomyosarcoma. ( 26839788 )
2014
11
Transactivating mutation of the MYOD1 gene is a frequent event in adult spindle cell rhabdomyosarcoma. ( 24272621 )
2014
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 displaying CD34 positivity: a potential diagnostic pitfall; report of two pediatric cases. ( 24022313 )
2013
14
Spindle cell rhabdomyosarcoma: a brief diagnostic review and differential diagnosis. ( 23899074 )
2013
15
Recurrent NCOA2 gene rearrangements in congenital/infantile spindle cell rhabdomyosarcoma. ( 23463663 )
2013
16
Spindle cell rhabdomyosarcoma of the prostate. ( 23320845 )
2013
17
Exfoliative cytologic findings of maxillary sinus spindle cell rhabdomyosarcoma. ( 20518428 )
2010
18
Aggressive spindle cell rhabdomyosarcoma in an 11-month-old boxer dog. ( 20460837 )
2010
19
Sclerosing spindle cell rhabdomyosarcoma in an adult: report of a new case and review of the literature. ( 19017660 )
2010
20
Unique case of giant adult paratesticular spindle cell rhabdomyosarcoma. ( 19036416 )
2009
21
[Clinicopathologic analysis of spindle cell rhabdomyosarcoma: report of 8 cases]. ( 18646700 )
2008
22
Radiation-induced mandibular adult spindle cell rhabdomyosarcoma. ( 18023143 )
2008
23
Spindle cell rhabdomyosarcoma in adults: clinicopathological and immunohistochemical analysis of seven new cases. ( 17013628 )
2006
24
Kit expression in spindle cell rhabdomyosarcoma can possibly create a different approach for its tumorigenesis and therapy. ( 16860492 )
2006
25
Spindle cell rhabdomyosarcoma in adults. ( 16006807 )
2005
26
Paratesticular spindle cell rhabdomyosarcoma diagnosed by fine needle aspiration cytology: a case report. ( 15966299 )
2005
27
Spindle cell rhabdomyosarcoma of the tongue in an infant: a case report with emphasis on differential diagnosis of childhood spindle cell lesions. ( 15462501 )
2004
28
Spindle-cell rhabdomyosarcoma with 2q36 approximately q37 involvement. ( 12550761 )
2003
29
Paratesticular spindle cell rhabdomyosarcoma in an adult. ( 11458081 )
2001
30
Spindle cell rhabdomyosarcoma in adults. A case report and literature review. ( 10674275 )
2000
31
Cytogenetic study of a spindle-cell rhabdomyosarcoma of the parotid gland. ( 10087951 )
1999
32
Spindle cell rhabdomyosarcoma (so-called) in adults: report of two cases with emphasis on differential diagnosis. ( 9537474 )
1998
33
Spindle cell rhabdomyosarcoma: histologic variant of embryonal rhabdomyosarcoma with association to favorable prognosis. ( 7882713 )
1995
34
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 COSM45005 TP53 soft tissue,NS,rhabdomyosarcoma,embryonal c.739A>G p.N247D 17:7674224-7674224 5
2 COSM11081 TP53 soft tissue,NS,rhabdomyosarcoma,embryonal c.733G>T p.G245C 17:7674230-7674230 5
3 COSM10662 TP53 soft tissue,NS,rhabdomyosarcoma,embryonal c.743G>A p.R248Q 17:7674220-7674220 5
4 COSM10654 TP53 soft tissue,NS,rhabdomyosarcoma,embryonal c.637C>T p.R213* 17:7674894-7674894 5
5 COSM44720 TP53 soft tissue,NS,rhabdomyosarcoma,embryonal c.961A>T p.K321* 17:7673567-7673567 5
6 COSM6932 TP53 soft tissue,NS,rhabdomyosarcoma,embryonal c.733G>A p.G245S 17:7674230-7674230 5
7 COSM45255 TP53 soft tissue,NS,rhabdomyosarcoma,embryonal c.668C>G p.P223R 17:7674863-7674863 5
8 COSM6986214 SOX9 soft tissue,NS,rhabdomyosarcoma,embryonal c.76A>G p.M26V 17:72121467-72121467 5
9 COSM6986215 PTPRT soft tissue,NS,rhabdomyosarcoma,embryonal c.2277G>T p.Q759H 20:42248779-42248779 5
10 COSM13016 PTPN11 soft tissue,NS,rhabdomyosarcoma,embryonal c.226G>C p.E76Q 12:112450406-112450406 5
11 COSM14271 PTPN11 soft tissue,NS,rhabdomyosarcoma,embryonal c.1508G>T p.G503V 12:112489084-112489084 5
12 COSM13014 PTPN11 soft tissue,NS,rhabdomyosarcoma,embryonal c.214G>A p.A72T 12:112450394-112450394 5
13 COSM13013 PTPN11 soft tissue,NS,rhabdomyosarcoma,embryonal c.205G>A p.E69K 12:112450385-112450385 5
14 COSM6986208 PTCH1 soft tissue,NS,rhabdomyosarcoma,embryonal c.208G>A p.A70T 9:95506593-95506593 5
15 COSM6910708 POLE soft tissue,NS,rhabdomyosarcoma,embryonal c.5975G>C p.C1992S 12:132634215-132634215 5
16 COSM1083818 PIK3CG soft tissue,NS,rhabdomyosarcoma,embryonal c.2638G>A p.E880K 7:106883041-106883041 5
17 COSM763 PIK3CA soft tissue,NS,rhabdomyosarcoma,embryonal c.1633G>A p.E545K 3:179218303-179218303 5
18 COSM775 PIK3CA soft tissue,NS,rhabdomyosarcoma,embryonal c.3140A>G p.H1047R 3:179234297-179234297 5
19 COSM760 PIK3CA soft tissue,NS,rhabdomyosarcoma,embryonal c.1624G>A p.E542K 3:179218294-179218294 5
20 COSM6914067 PDGFRA soft tissue,NS,rhabdomyosarcoma,embryonal c.3195G>C p.E1065D 4:54295197-54295197 5
21 COSM6964921 NTRK3 soft tissue,NS,rhabdomyosarcoma,embryonal c.492C>A p.C164* 15:88137534-88137534 5
22 COSM580 NRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.181C>A p.Q61K 1:114713909-114713909 5
23 COSM585 NRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.183A>T p.Q61H 1:114713907-114713907 5
24 COSM564 NRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.35G>A p.G12D 1:114716126-114716126 5
25 COSM569 NRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.37G>C p.G13R 1:114716124-114716124 5
26 COSM584 NRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.182A>G p.Q61R 1:114713908-114713908 5
27 COSM563 NRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.34G>A p.G12S 1:114716127-114716127 5
28 COSM574 NRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.38G>T p.G13V 1:114716123-114716123 5
29 COSM562 NRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.34G>T p.G12C 1:114716127-114716127 5
30 COSM6910706 NOTCH1 soft tissue,NS,rhabdomyosarcoma,embryonal c.3277T>C p.Y1093H 9:136508280-136508280 5
31 COSM6933086 NF1 soft tissue,NS,rhabdomyosarcoma,embryonal c.7870G>C p.A2624P 17:31357269-31357269 5
32 COSM1745010 MYOD1 soft tissue,NS,rhabdomyosarcoma,embryonal c.365T>G p.L122R 11:17720147-17720147 5
33 COSM516 KRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.34G>T p.G12C 12:25245351-25245351 5
34 COSM521 KRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.35G>A p.G12D 12:25245350-25245350 5
35 COSM532 KRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.38G>A p.G13D 12:25245347-25245347 5
36 COSM522 KRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.35G>C p.G12A 12:25245350-25245350 5
37 COSM553 KRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.182A>T p.Q61L 12:25227342-25227342 5
38 COSM6930430 KMT2D soft tissue,NS,rhabdomyosarcoma,embryonal c.1291G>T p.E431* 12:49052392-49052392 5
39 COSM2965310 KDM6A soft tissue,NS,rhabdomyosarcoma,embryonal c.493C>T p.R165* 23:45020659-45020659 5
40 COSM486 HRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.37G>C p.G13R 11:534286-534286 5
41 COSM480 HRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.34G>A p.G12S 11:534289-534289 5
42 COSM496 HRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.181C>A p.Q61K 11:533875-533875 5
43 COSM483 HRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.35G>T p.G12V 11:534288-534288 5
44 COSM481 HRAS soft tissue,NS,rhabdomyosarcoma,embryonal c.34G>T p.G12C 11:534289-534289 5
45 COSM5702570 FGFR1 soft tissue,NS,rhabdomyosarcoma,embryonal c.1611G>T p.M537I 8:38417358-38417358 5
46 COSM1251469 ERCC5 soft tissue,NS,rhabdomyosarcoma,embryonal c.3256G>A p.G1086R 13:102875598-102875598 5
47 COSM959251 DICER1 soft tissue,NS,rhabdomyosarcoma,embryonal c.5113G>A p.E1705K 14:95094139-95094139 5
48 COSM3744763 DICER1 soft tissue,NS,rhabdomyosarcoma,embryonal c.5428G>T p.D1810Y 14:95091302-95091302 5
49 COSM3738451 DICER1 soft tissue,NS,rhabdomyosarcoma,embryonal c.5439G>T p.E1813D 14:95091291-95091291 5
50 COSM3738549 DICER1 soft tissue,NS,rhabdomyosarcoma,embryonal c.5365-1G>T p.? 14:95091366-95091366 5

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
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
Content
Loading form....