MCID: SPN009
MIFTS: 36

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 72

Classifications:



External Ids:

Disease Ontology 12 DOID:3260
NCIt 50 C6519
UMLS 72 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). The drugs Cyclophosphamide and Vincristine have been mentioned in the context of this disorder. Affiliated tissues include bone, prostate and uterus, and related phenotype is muscle.

Wikipedia : 75 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 33.1 MYOD1 MB DES
2 rhabdomyosarcoma 31.5 MYOD1 MB DES
3 adult fibrosarcoma 30.6 MYOD1 MB
4 spindle cell carcinoma 30.4 MUC1 DES
5 leiomyosarcoma 30.3 S100B MB DES
6 monophasic synovial sarcoma 30.0 S100B MUC1
7 hemangiopericytoma, malignant 29.7 S100B MUC1 DES
8 malignant triton tumor 29.4 S100B MYOD1 MB DES
9 gallbladder sarcoma 10.6 MYOD1 DES
10 inflammatory leiomyosarcoma 10.5 MYOD1 DES
11 giant cell myocarditis 10.5 MB DES
12 malignant fibrous histiocytoma of bone 10.5 MYOD1 DES
13 horner's syndrome 10.5 MYOD1 DES
14 breast rhabdomyosarcoma 10.5 MYOD1 MB
15 myofibroma 10.5 MB DES
16 bilateral retinoblastoma 10.5 MB DES
17 histiocytoma 10.5 MYOD1 MB
18 pleomorphic rhabdomyosarcoma 10.5 MYOD1 MB
19 gliomatosis peritonei 10.5 GFAP DES
20 primitive neuroectodermal tumor of the cervix uteri 10.5 GFAP DES
21 rhabdoid cancer 10.4 MYOD1 MB
22 adenosarcoma 10.4 MB DES
23 gas gangrene 10.4 MYOD1 MB
24 meninges sarcoma 10.4 MB GFAP
25 spindle cell thymoma 10.4 MUC1 DES
26 biphasic synovial sarcoma 10.4 MUC1 DES
27 infantile myofibromatosis 10.4 MB DES
28 uterine sarcoma 10.4 MB DES
29 desmoplastic small round cell tumor 10.3 MUC1 DES
30 proximal spinal muscular atrophy 10.3 MUC1 DES
31 ischemic fasciitis 10.3 MUC1 DES
32 fasciitis 10.3 MUC1 DES
33 perivascular epithelioid cell tumor 10.3 MUC1 DES
34 reticulum cell sarcoma 10.3 MUC1 DES
35 extraskeletal ewing sarcoma 10.3 MUC1 DES
36 rare tumor 10.3
37 plasmablastic lymphoma 10.3 MUC1 DES
38 myxofibrosarcoma 10.3 S100B DES
39 fibrous histiocytoma 10.3 S100B DES
40 clear cell ependymoma 10.3 MUC1 GFAP
41 botryoid rhabdomyosarcoma 10.2 MYOD1 MB DES
42 mesenchymoma 10.2 MYOD1 MB DES
43 fibrosarcoma 10.2
44 juvenile xanthogranuloma 10.2 S100B DES
45 clear cell meningioma 10.2 MUC1 GFAP
46 malignant mesenchymoma 10.2 MYOD1 MB DES
47 muscle cancer 10.2 MYOD1 MB DES
48 cutaneous fibrous histiocytoma 10.2 S100B DES
49 alveolar soft part sarcoma 10.2 MYOD1 MB DES
50 rhabdomyosarcoma 2 10.2 MYOD1 MB DES

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



Diseases related to Spindle Cell Rhabdomyosarcoma

Symptoms & Phenotypes for Spindle Cell Rhabdomyosarcoma

MGI Mouse Phenotypes related to Spindle Cell Rhabdomyosarcoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.02 DES GFAP MB MYOD1 TEAD1

Drugs & Therapeutics for Spindle Cell Rhabdomyosarcoma

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

(show all 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
2
Vincristine Approved, Investigational Phase 3 57-22-7, 2068-78-2 5978
3
Dactinomycin Approved, Investigational Phase 3 50-76-0 457193 2019
4 Tubulin Modulators Phase 3
5 Alkylating Agents Phase 3
6 Anti-Bacterial Agents Phase 3
7 Antineoplastic Agents, Phytogenic Phase 3
8 Immunosuppressive Agents Phase 3
9 Anti-Infective Agents Phase 3
10 Antibiotics, Antitubercular Phase 3
11 Nucleic Acid Synthesis Inhibitors Phase 3
12 Antimitotic Agents Phase 3
13 Immunologic Factors Phase 3
14 Antineoplastic Agents, Alkylating Phase 3
15 Antirheumatic Agents Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Vincristine, Dactinomycin, and Lower Doses of Cyclophosphamide With or Without Radiation Therapy for Patients With Newly Diagnosed Low-Risk Embryonal/Botryoid/Spindle Cell Rhabdomyosarcoma Unknown status 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
Bone, Prostate, Uterus, Testes, Kidney, Lymph Node, Spinal Cord

Publications for Spindle Cell Rhabdomyosarcoma

Articles related to Spindle Cell Rhabdomyosarcoma:

(show top 50) (show all 66)
# Title Authors PMID Year
1
Spindle cell rhabdomyosarcoma in a lumbar vertebra with FUS-TFCP2 fusion. 38
30948206 2019
2
Congenital spindle cell rhabdomyosarcoma. 38
31339226 2019
3
Beyond "Triton": Malignant Peripheral Nerve Sheath Tumors With Complete Heterologous Rhabdomyoblastic Differentiation Mimicking Spindle Cell Rhabdomyosarcoma. 38
31107719 2019
4
Combined Sclerosing and Spindle Cell Rhabdomyosarcoma in Previous Craniotomy Site: A Case Report and a Review of the Literature. 38
30270691 2019
5
Spindle cell rhabdomyosarcoma of the anterior mandible manifesting as a periapical lesion of pulpal origin: Case report. 38
29665230 2019
6
MYOD1-mutant spindle cell and sclerosing rhabdomyosarcoma: an aggressive subtype irrespective of age. A reappraisal for molecular classification and risk stratification. 38
30181563 2019
7
Primary Meningeal Rhabdomyosarcoma of the Spinal Cord of a Young Dog with Neuromelanocytosis and Multiple Cutaneous Neurofibromas. 38
30502797 2018
8
Novel MEIS1-NCOA2 Gene Fusions Define a Distinct Primitive Spindle Cell Sarcoma of the Kidney. 38
30179902 2018
9
Evaluation of pan-TRK immunohistochemistry in infantile fibrosarcoma, lipofibromatosis-like neural tumour and histological mimics. 38
29863809 2018
10
Expression of PAX3 Distinguishes Biphenotypic Sinonasal Sarcoma From Histologic Mimics. 38
29863547 2018
11
Spindle cell rhabdomyosarcoma of bone with FUS-TFCP2 fusion: confirmation of a very recently described rhabdomyosarcoma subtype. 38
29758589 2018
12
Lumbar Intraspinal Spindle Cell Rhabdomyosarcoma as a Rare Cause of Spinal Stenosis: A Case Report. 38
29452297 2018
13
Oral rhabdomyosarcoma in an adult male: A rare case report. 38
30158795 2018
14
Fibroblastic and myofibroblastic tumors of children: new genetic entities and new ancillary testing. 38
30613391 2018
15
TFG-MET fusion in an infantile spindle cell sarcoma with neural features. 38
28510278 2017
16
FOSB is a Useful Diagnostic Marker for Pseudomyogenic Hemangioendothelioma. 38
28009608 2017
17
Robot-assisted retroperitoneal lymph node dissection (RA-RPLND) in the adolescent population. 38
28262537 2017
18
Mixed Botryoid and Spindle Cell Bladder Rhabdomyosarcoma: An Outstanding Pediatric Case. 38
28116202 2017
19
MYOD1 (L122R) mutations are associated with spindle cell and sclerosing rhabdomyosarcomas with aggressive clinical outcomes. 38
27562493 2016
20
Spindle-cell rhabdomyosarcoma of the thumb: Rare site, rare tumor in a child. 38
27502215 2016
21
A rare case of multifocal pseudomyogenic hemangioendothelioma, involving soft tissues and bone, misdiagnosed as a rhabdomyosarcoma: Diagnostic and treatment implications. 38
27510684 2016
22
A Molecular Study of Pediatric Spindle and Sclerosing Rhabdomyosarcoma: Identification of Novel and Recurrent VGLL2-related Fusions in Infantile Cases. 38
26501226 2016
23
Loss of H3K27 trimethylation distinguishes malignant peripheral nerve sheath tumors from histologic mimics. 38
26585554 2016
24
Paratesticular Spindle Cell Rhabdomyosarcoma. 38
26500726 2015
25
Spindle cell/sclerosing rhabdomyosarcoma: case series from a single institution emphasizing morphology, immunohistochemistry and follow-up. 38
26823695 2015
26
Recurrent MYOD1 mutations in pediatric and adult sclerosing and spindle cell rhabdomyosarcomas: evidence for a common pathogenesis. 38
24824843 2014
27
An Adult Case of Paratesticular Spindle Cell Rhabdomyosarcoma. 38
26839788 2014
28
An adult spindle cell rhabdomyosarcoma in the head and neck region with long-term survival: a case report. 38
24946859 2014
29
Transactivating mutation of the MYOD1 gene is a frequent event in adult spindle cell rhabdomyosarcoma. 38
24272621 2014
30
Spindle cell rhabdomyosarcoma in the hypopharynx of an adult. 38
25197406 2014
31
Spindle cell rhabdomyosarcoma of the retroperitoneum: an unusual case developed in a pregnant woman but obscured by pregnancy. 38
25197361 2014
32
Spindle cell rhabdomyosarcoma of the prostate. 38
23320845 2013
33
Spindle cell rhabdomyosarcoma: a brief diagnostic review and differential diagnosis. 38
23899074 2013
34
Recurrent NCOA2 gene rearrangements in congenital/infantile spindle cell rhabdomyosarcoma. 38
23463663 2013
35
Spindle cell rhabdomyosarcoma displaying CD34 positivity: a potential diagnostic pitfall; report of two pediatric cases. 38
24022313 2013
36
Spindle cell rhabdomyosarcoma of the neck with t(6;8) translocation: report of a case and literature review. 38
23113671 2013
37
Spindle Cell Sarcomas. 38
26837645 2011
38
Sclerosing spindle cell rhabdomyosarcoma in an adult: report of a new case and review of the literature. 38
19017660 2010
39
Aggressive spindle cell rhabdomyosarcoma in an 11-month-old boxer dog. 38
20460837 2010
40
Exfoliative cytologic findings of maxillary sinus spindle cell rhabdomyosarcoma. 38
20518428 2010
41
[Spindle cell rhabdomyosarcoma in adults: a new entity in the spectrum of malignant mesenchymal tumors of soft tissues]. 38
19997735 2010
42
Unique case of giant adult paratesticular spindle cell rhabdomyosarcoma. 38
19036416 2009
43
Radiation-induced mandibular adult spindle cell rhabdomyosarcoma. 38
18023143 2008
44
[Clinicopathologic analysis of spindle cell rhabdomyosarcoma: report of 8 cases]. 38
18646700 2008
45
[Sclerosing rhabdomyosarcoma: a clinicopathologic study of four cases with review of literature]. 38
18070445 2007
46
Spindle cell rhabdomyosarcoma in adults: clinicopathological and immunohistochemical analysis of seven new cases. 38
17013628 2006
47
Rhabdomyosarcomas in adults and children: an update. 38
17090187 2006
48
Kit expression in spindle cell rhabdomyosarcoma can possibly create a different approach for its tumorigenesis and therapy. 38
16860492 2006
49
Infantile rhabdomyofibrosarcoma: a distinct variant or a missing link between fibrosarcoma and rhabdomyosarcoma? 38
16763362 2006
50
Spindle cell rhabdomyosarcoma in adults. 38
16006807 2005

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

Expression for Spindle Cell Rhabdomyosarcoma

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

Pathways for Spindle Cell Rhabdomyosarcoma

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 GFAP DES

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 S100B GFAP
2 intermediate filament organization GO:0045109 8.62 GFAP DES

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

# Name GO ID Score Top Affiliating Genes
1 transcription factor binding GO:0008134 9.43 TFCP2 NCOA2 MYOD1
2 proximal promoter sequence-specific DNA binding GO:0000987 9.16 TFCP2 TEAD1
3 nuclear hormone receptor binding GO:0035257 8.96 NCOA2 MYOD1
4 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 8.92 TFCP2 NCOA2 MYOD1 MUC1

Sources for Spindle Cell Rhabdomyosarcoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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