RMS2
MCID: RHB024
MIFTS: 65

Rhabdomyosarcoma 2 (RMS2)

Categories: Bone diseases, Cancer diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Rhabdomyosarcoma 2

MalaCards integrated aliases for Rhabdomyosarcoma 2:

Name: Rhabdomyosarcoma 2 57 73
Alveolar Rhabdomyosarcoma 11 19 58 28 5 14 16 71 75
Rhabdomyosarcoma, Alveolar 57 75 43
Rhabdomyosarcoma Alveolar 19 73 53
Alveolar Childhood Rhabdomyosarcoma 11 71
Rhabdomyosarcoma 2, Alveolar 57 12
Rms2 57 73
Rmsa 57 73
Rhabdomyosarcoma, Type 2 38
Arms 19

Characteristics:


Inheritance:

Somatic mutation 57

Prevelance:

Alveolar Rhabdomyosarcoma: <1/1000000 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 11 DOID:4051
OMIM® 57 268220
MeSH 43 D018232
NCIt 49 C3749 C7958
SNOMED-CT 68 404053004
MESH via Orphanet 44 D018232
ICD10 via Orphanet 32 C49.9
UMLS via Orphanet 72 C0206655
Orphanet 58 ORPHA99756
MedGen 40 C0206655
SNOMED-CT via HPO 69 63449009
UMLS 71 C0206655 C0279613

Summaries for Rhabdomyosarcoma 2

GARD: 19 A form of RHABDOMYOSARCOMA occurring mainly in adolescents and young adults, affecting muscles of the extremities, trunk, orbital region, etc. It is extremely malignant, metastasizing widely at an early stage. Few cures have been achieved and the prognosis is poor. \"Alveolar\" refers to its microscopic appearance simulating the cells of the respiratory alveolus. (Holland et al., Cancer Medicine, 3d ed, p2188)

MalaCards based summary: Rhabdomyosarcoma 2, also known as alveolar rhabdomyosarcoma, is related to embryonal rhabdomyosarcoma and sarcoma. An important gene associated with Rhabdomyosarcoma 2 is PAX7 (Paired Box 7), and among its related pathways/superpathways are Malignant pleural mesothelioma and Endometrial cancer. The drugs Lenograstim and Sargramostim have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, breast and lung, and related phenotypes are alveolar rhabdomyosarcoma and muscle

UniProtKB/Swiss-Prot: 73 A form of rhabdomyosarcoma, a highly malignant tumor of striated muscle derived from primitive mesenchymal cells and exhibiting differentiation along rhabdomyoblastic lines. Rhabdomyosarcoma is one of the most frequently occurring soft tissue sarcomas and the most common in children. It occurs in four forms: alveolar, pleomorphic, embryonal and botryoidal rhabdomyosarcomas.

Wikipedia: 75 Alveolar rhabdomyosarcoma (ARMS) is a subtype of the rhabdomyosarcoma soft tissue cancer family whose... more...

More information from OMIM: 268220

Related Diseases for Rhabdomyosarcoma 2

Diseases in the Rhabdomyosarcoma family:

Rhabdomyosarcoma 2

Diseases related to Rhabdomyosarcoma 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 386)
# Related Disease Score Top Affiliating Genes
1 embryonal rhabdomyosarcoma 31.8 WT1 TP53 PAX7 PAX3 NF1 MYOG
2 sarcoma 31.2 WT1 TP53 MYOG MYOD1 MDM2 MB
3 skeletal muscle neoplasm 30.9 MYOG MYOD1 MB
4 hepatoblastoma 30.8 WT1 TP53 MYCN MDM2
5 breast rhabdomyosarcoma 30.8 PAX7 PAX3 MYOG MYOD1 MB FOXO1
6 osteogenic sarcoma 30.8 TP53 MDM2 IGF1R CDK4
7 small cell carcinoma 30.8 TP53 MYCN ENO2 ALK
8 mesenchymal cell neoplasm 30.8 TP53 NF1 MYOG MDM2 ALK
9 prostate rhabdomyosarcoma 30.7 MYOG MYOD1
10 ewing sarcoma 30.7 WT1 TP53 PAX7 PAX3 NF1 MYOG
11 beckwith-wiedemann syndrome 30.7 WT1 TP53 PAX7 NF1 MYOD1 IGF1R
12 skin benign neoplasm 30.7 TP53 NF1 ENO2
13 neurilemmoma 30.7 NF1 ENO2 DES
14 chondrosarcoma 30.6 MDM2 ENO2 DES CDK4
15 desmoplastic small round cell tumor 30.6 WT1 PAX7 PAX3 MYOG MYOD1 ENO2
16 muscular dystrophy, duchenne type 30.6 PAX7 MYOD1 MB DES
17 neuroblastoma 30.6 TP53 NF1 MYCN MDM2 IGF1R FOXO1
18 orbit rhabdomyosarcoma 30.6 PAX7 PAX3 NF1 MYOG MYOD1 MB
19 alveolar soft part sarcoma 30.6 PAX3 MYOG MYOD1 MB ENO2 DES
20 lymphoma 30.5 TP53 MDM2 IGF1R CDK4 ALK
21 connective tissue benign neoplasm 30.5 TP53 NF1 MDM2 ENO2 CDK4 ALK
22 pleomorphic rhabdomyosarcoma 30.5 TP53 PAX7 PAX3 NF1 MYOG MYOD1
23 retinoblastoma 30.5 TP53 MYOG MYOD1 MYCN MDM2 ENO2
24 malignant fibrous histiocytoma 30.5 TP53 MYOG MYOD1 MDM2 MB DES
25 malignant mesenchymoma 30.5 MYOG MYOD1 MDM2 MB
26 wilms tumor 1 30.4 WT1 TP53 PAX3 NF1 MYOG MYOD1
27 progressive relapsing multiple sclerosis 30.4 PAX7 PAX3 MYOG MYOD1 FOXO1
28 mesenchymal chondrosarcoma 30.4 MYOG MYOD1 ENO2 DES
29 melanoma 30.4 TP53 RMST PAX3 NF1 MDM2 IGF1R
30 sarcoma, synovial 30.4 WT1 PAX3 NF1 MYOG MYCN MDM2
31 liposarcoma 30.4 TP53 NF1 MYOG MDM2 MB IGF1R
32 botryoid rhabdomyosarcoma 30.4 WT1 PAX3 MYOG MYOD1 MB
33 familial retinoblastoma 30.4 TP53 NF1 MYCN MDM2 CDK4
34 blastoma 30.4 TP53 MYOG MYCN MB ENO2
35 inherited cancer-predisposing syndrome 30.4 TP53 NF1 CDK4 ALK
36 bap1 tumor predisposition syndrome 30.4 TP53 NF1 CDK4 ALK
37 malignant peripheral nerve sheath tumor 30.4 TP53 NF1 MYOG MDM2 CDK4
38 li-fraumeni syndrome 30.4 TP53 NF1 MYCN MDM2 CDK4
39 gliosarcoma 30.3 TP53 NF1 MYCN MDM2 ENO2 CDK4
40 myxofibrosarcoma 30.3 TP53 PAX3 NF1 MYOG MYOD1 MDM2
41 eye disease 30.3 TP53 NF1 MYCN MDM2 IGF1R CDK4
42 muscle cancer 30.2 WT1 TP53 RMST PAX7 PAX3 NF1
43 skeletal muscle cancer 30.2 WT1 TP53 RMST PAX7 PAX3 NF1
44 adenocarcinoma 30.2 TP53 MDM2 IGF1R CDK4 ALK
45 gastrointestinal stromal tumor 30.2 TP53 NF1 MDM2 IGF1R ENO2 DES
46 endometrial cancer 30.2 WT1 TP53 NF1 MDM2 IGF1R FOXO1
47 leiomyosarcoma 30.1 WT1 TP53 NF1 MYOG MDM2 MB
48 leukemia, acute myeloid 30.1 WT1 TP53 NF1 MYCN MDM2 IGF1R
49 rhabdomyosarcoma 30.0 WT1 TP53 RMST PAX7 PAX3 NF1
50 medulloblastoma 29.9 TP53 PAX3 NF1 MYOG MYOD1 MYCN

Graphical network of the top 20 diseases related to Rhabdomyosarcoma 2:



Diseases related to Rhabdomyosarcoma 2

Symptoms & Phenotypes for Rhabdomyosarcoma 2

Human phenotypes related to Rhabdomyosarcoma 2:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 alveolar rhabdomyosarcoma 30 HP:0006779

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neoplasia:
alveolar rhabdomyosarcoma

Clinical features from OMIM®:

268220 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Rhabdomyosarcoma 2:

45 (show all 21)
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 10.41 CDK4 DES FOXO1 IGF1R MB MDM2
2 homeostasis/metabolism MP:0005376 10.41 ALK CDK4 DES FOXO1 IGF1R MB
3 growth/size/body region MP:0005378 10.4 ALK CDK4 ENO2 FOXO1 IGF1R MB
4 normal MP:0002873 10.36 ALK CDK4 FOXO1 MDM2 MYCN MYOD1
5 neoplasm MP:0002006 10.33 ALK CDK4 FOXO1 IGF1R MDM2 MYOD1
6 cellular MP:0005384 10.28 CDK4 DES ENO2 FOXO1 IGF1R MB
7 embryo MP:0005380 10.27 CDK4 FOXO1 IGF1R MB MDM2 MYCN
8 no phenotypic analysis MP:0003012 10.23 FOXO1 MDM2 MYCN MYOD1 MYOG PAX3
9 liver/biliary system MP:0005370 10.21 CDK4 FOXO1 IGF1R MDM2 MYCN NF1
10 endocrine/exocrine gland MP:0005379 10.21 ALK CDK4 FOXO1 IGF1R MDM2 NF1
11 behavior/neurological MP:0005386 10.21 ALK CDK4 DES ENO2 FOXO1 IGF1R
12 cardiovascular system MP:0005385 10.18 CDK4 DES FOXO1 IGF1R MB MDM2
13 craniofacial MP:0005382 10.16 CDK4 ENO2 FOXO1 IGF1R MDM2 MYCN
14 digestive/alimentary MP:0005381 10.13 CDK4 FOXO1 IGF1R MDM2 MYCN NF1
15 respiratory system MP:0005388 10.1 ALK ENO2 IGF1R MB MYCN MYOD1
16 limbs/digits/tail MP:0005371 10.09 FOXO1 IGF1R MDM2 MYCN NF1 PAX3
17 pigmentation MP:0001186 10.08 ALK CDK4 MDM2 NF1 PAX3 TP53
18 reproductive system MP:0005389 9.96 ALK CDK4 FOXO1 IGF1R MDM2 MYCN
19 skeleton MP:0005390 9.93 ALK CDK4 FOXO1 IGF1R MDM2 MYCN
20 mortality/aging MP:0010768 9.83 ALK CDK4 DES FOXO1 IGF1R MB
21 integument MP:0010771 9.32 ALK CDK4 FOXO1 IGF1R MDM2 MYOG

Drugs & Therapeutics for Rhabdomyosarcoma 2

Drugs for Rhabdomyosarcoma 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 62)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lenograstim Approved, Investigational Phase 3 135968-09-1
2
Sargramostim Approved, Investigational Phase 3 123774-72-1
3
Topotecan Approved, Investigational Phase 3 123948-87-8, 119413-54-6 60699 60700
4
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
5
Vinorelbine Approved, Investigational Phase 3 71486-22-1 44424639 60780
6
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
7
Dactinomycin Approved, Investigational Phase 3 50-76-0 2019 457193
8
Morphine Approved, Investigational Phase 3 57-27-2 5288826
9
Sirolimus Approved, Investigational Phase 3 53123-88-9 5284616 6436030
10
Irinotecan Approved, Investigational Phase 3 97682-44-5, 100286-90-6 60838
11
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
12
Clotrimazole Approved, Vet_approved Phase 3 23593-75-1 2812
13
Molgramostim Investigational Phase 3 99283-10-0
14
Camptothecin Experimental Phase 3 7689-03-4 24360
15 Alkylating Agents Phase 3
16 Anti-Bacterial Agents Phase 3
17 Antirheumatic Agents Phase 3
18 Antineoplastic Agents, Alkylating Phase 3
19 Anti-Infective Agents Phase 3
20 Antimitotic Agents Phase 3
21 Tubulin Modulators Phase 3
22 Antibiotics, Antitubercular Phase 3
23 Immunosuppressive Agents Phase 3
24 Immunologic Factors Phase 3
25 Cactinomycin Phase 3
26 topoisomerase I inhibitors Phase 3
27 Antifungal Agents Phase 3
28
Etoposide Approved Phase 2 33419-42-0 36462
29
Picropodophyllin Approved, Investigational Phase 2 518-28-5, 477-47-4 10607 72435
30
Ifosfamide Approved Phase 2 3778-73-2 3690
31
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
32
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
33
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
34
Bevacizumab Approved, Investigational Phase 2 216974-75-3 135329020
35
Fludarabine Approved Phase 1, Phase 2 75607-67-9, 21679-14-1 30751 657237
36
Crizotinib Approved, Investigational Phase 2 877399-52-5 11626560
37
Dasatinib Approved, Investigational Phase 1, Phase 2 302962-49-8 3062316
38
Palifosfamide Investigational Phase 2 31645-39-3 100427
39
Tirapazamine Investigational Phase 2 27314-97-2 135413511
40
Etoposide phosphate Phase 2 16760419
41 Keratolytic Agents Phase 2
42 Liposomal doxorubicin Phase 2
43 Dermatologic Agents Phase 2
44 Immunoglobulins, Intravenous Phase 2
45 Immunoglobulin G Phase 2
46 Angiogenesis Inhibitors Phase 2
47 Antineoplastic Agents, Immunological Phase 2
48 Endothelial Growth Factors Phase 2
49 Vaccines Phase 1, Phase 2
50 Keyhole-limpet hemocyanin Phase 1, Phase 2

Interventional clinical trials:

(show all 19)
# Name Status NCT ID Phase Drugs
1 Randomized Study of Vincristine, Actinomycin-D, and Cyclophosphamide (VAC) Versus VAC Alternating With Vincristine, Topotecan and Cyclophosphamide for Patients With Intermediate Risk Rhabdomyosarcoma Completed NCT00003958 Phase 3 vincristine sulfate;cyclophosphamide;topotecan hydrochloride
2 A Randomized Phase 3 Trial of Vinorelbine, Dactinomycin, and Cyclophosphamide (VINO-AC) Plus Maintenance Chemotherapy With Vinorelbine and Oral Cyclophosphamide (VINO-CPO) vs Vincristine, Dactinomycin and Cyclophosphamide (VAC) Plus VINO-CPO Maintenance in Patients With High Risk Rhabdomyosarcoma (HR-RMS) Recruiting NCT04994132 Phase 3 Cyclophosphamide;Vincristine Sulfate;Vinorelbine Tartrate
3 A Prospective Phase 3 Study of Patients With Newly Diagnosed Very Low-Risk and Low-Risk Fusion Negative Rhabdomyosarcoma Recruiting NCT05304585 Phase 3 Cyclophosphamide;Vincristine
4 Randomized Study of Vincristine, Dactinomycin and Cyclophosphamide (VAC) Versus VAC Alternating With Vincristine and Irinotecan (VI) for Patients With Intermediate-Risk Rhabdomyosarcoma (RMS) Active, not recruiting NCT00354835 Phase 3 Irinotecan Hydrochloride;Cyclophosphamide;Vincristine Sulfate
5 A Randomized Phase 3 Study of Vincristine, Dactinomycin, Cyclophosphamide (VAC) Alternating With Vincristine and Irinotecan (VI) Versus VAC/VI Plus Temsirolimus (TORI, Torisel, NSC# 683864) in Patients With Intermediate Risk (IR) Rhabdomyosarcoma (RMS) Suspended NCT02567435 Phase 3 Cyclophosphamide;Irinotecan Hydrochloride;Temsirolimus;Vincristine Sulfate;Vinorelbine
6 A Pilot Study to Evaluate Novel Agents (Temozolomide and Cixutumumab [IMC-A12, Anti-IGF-IR Monoclonal Antibody NSC # 742460]) in Combination With Intensive Multi-agent Interval Compressed Therapy for Patients With High-Risk Rhabdomyosarcoma Completed NCT01055314 Phase 2 Cyclophosphamide;Doxorubicin Hydrochloride;Etoposide;Ifosfamide;Irinotecan Hydrochloride;Temozolomide;Vincristine Sulfate Liposome
7 A Randomized Phase II Trial of Bevacizumab (Avastin) and Temsirolimus (Torisel) in Combination With Intravenous Vinorelbine and Cyclophosphamide in Patients With Recurrent/Refractory Rhabdomyosarcoma Completed NCT01222715 Phase 2 Cyclophosphamide;Temsirolimus;Vinorelbine Tartrate
8 A Pilot Study of Tumor Vaccination and R-hIL-7 Following Standard Multimodality Therapy in Patients With High Risk Pediatric Solid Tumors Completed NCT00923351 Phase 1, Phase 2 Tumor Purged/CD25 Depleted Lymphocytes;rhIL-7
9 A Groupwide Randomized Phase II Window Study of Two Different Schedules of Irinotecan in Combination With Vincristine And Pilot Assessment of Safety and Efficacy of Tirapazamine Combined With Multiagent Chemotherapy for First Relapse or Progressive Disease in Rhabdomyosarcoma and Related Tumors Completed NCT00025363 Phase 2 vincristine sulfate;irinotecan hydrochloride;cyclophosphamide;doxorubicin hydrochloride;ifosfamide;etoposide;tirapazamine
10 Phase II Trial of Ixabepilone (BMS-247550), an Epothilone B Analog, in Children and Young Adults With Refractory Solid Tumors Completed NCT00331643 Phase 2 ixabepilone
11 A Phase 1/ 2 Study of BAY 1895344 (Elimusertib, NSC#810486) in Pediatric Patients With Relapsed or Refractory Solid Tumors Recruiting NCT05071209 Phase 1, Phase 2 Elimusertib
12 Cross-tumoral Phase 2 Clinical Trial Exploring Crizotinib (PF-02341066) in Patients With Advanced Tumors Induced by Causal Alterations of ALK and/or MET ("CREATE") Active, not recruiting NCT01524926 Phase 2 Crizotinib (PF-02341066)
13 A Phase I/II Trial of the Insulin-Like Growth Factor 1 Receptor (IGF-1R) Antibody AMG479 (Ganitumab) in Combination With the Src Family Kinase (SFK) Inhibitor Dasatinib in Patients With Embryonal and Alveolar Rhabdomyosarcoma Terminated NCT03041701 Phase 1, Phase 2 Dasatinib;Ganitumab
14 A Phase 1, Open-Label, Multicenter, Dose Escalation Study of TB-403 in Pediatric Subjects With Relapsed or Refractory Medulloblastoma, Neuroblastoma, Ewing Sarcoma or Alveolar Rhabdomyosarcoma Completed NCT02748135 Phase 1 TB-403 20mg/kg;TB-403 50mg/kg;TB-403 100mg/kg;TB-403 175mg/kg
15 Tissue Microarray Studies of the 12q13-q14 Amplicon in Alveolar Rhabdomyosarcoma Completed NCT01609803
16 Developmental Pathway Drug-Targets in Advanced Rhabdomyosarcomas Completed NCT01668095
17 Observational - Identifying and Validating Novel Mechanisms of Radiation Resistance in Rhabdomyosarcoma Completed NCT01626170
18 Observational - CRKL Expression at the Protein Level in Rhabdomyosarcoma Tumors by Tissue Microarray (TMA) Completed NCT01496573
19 Genetics of Embryonal and Alveolar Rhabdomyosarcoma Study (GEARS) Recruiting NCT03296371

Search NIH Clinical Center for Rhabdomyosarcoma 2

Cochrane evidence based reviews: rhabdomyosarcoma, alveolar

Genetic Tests for Rhabdomyosarcoma 2

Genetic tests related to Rhabdomyosarcoma 2:

# Genetic test Affiliating Genes
1 Alveolar Rhabdomyosarcoma 28 FOXO1 PAX3 PAX7

Anatomical Context for Rhabdomyosarcoma 2

Organs/tissues related to Rhabdomyosarcoma 2:

MalaCards : Skeletal Muscle, Breast, Lung, Prostate, Bone Marrow, Lymph Node, Myeloid

Publications for Rhabdomyosarcoma 2

Articles related to Rhabdomyosarcoma 2:

(show top 50) (show all 31017)
# Title Authors PMID Year
1
Mechanism for transcriptional gain of function resulting from chromosomal translocation in alveolar rhabdomyosarcoma. 53 62 57
8643596 1996
2
Fusion of a fork head domain gene to PAX3 in the solid tumour alveolar rhabdomyosarcoma. 53 62 57
8275086 1993
3
Rearrangement of the PAX3 paired box gene in the paediatric solid tumour alveolar rhabdomyosarcoma. 53 62 57
8098985 1993
4
Detection of the PAX3-FKHR fusion gene in paediatric rhabdomyosarcoma: a reproducible predictor of outcome? 62 57
11556833 2001
5
Localization of the t(2;13) breakpoint of alveolar rhabdomyosarcoma on a physical map of chromosome 2. 62 57
1505949 1992
6
Chromosomal sublocalization of the 2;13 translocation breakpoint in alveolar rhabdomyosarcoma. 62 57
1382566 1992
7
Localization of the rhabdomyosarcoma t(2;13) breakpoint on a physical map of chromosome 13. 62 57
1783402 1991
8
Synergism between INK4a/ARF inactivation and aberrant HGF/SF signaling in rhabdomyosarcomagenesis. 57
12368906 2002
9
Chromosomal analysis of sixteen human rhabdomyosarcomas. 57
3338090 1988
10
Translocation 2;8 in a congenital rhabdomyosarcoma. 57
3342389 1988
11
A specific chromosomal abnormality in rhabdomyosarcoma. 57
3691179 1987
12
The utility of FOXO1 fluorescence in situ hybridization (FISH) in formalin-fixed paraffin-embedded specimens in the diagnosis of alveolar rhabdomyosarcoma. 53 62
19704258 2009
13
MI-63: a novel small-molecule inhibitor targets MDM2 and induces apoptosis in embryonal and alveolar rhabdomyosarcoma cells with wild-type p53. 53 62
19707204 2009
14
Structural basis for DNA recognition by the human PAX3 homeodomain. 53 62
19199574 2009
15
Alterations of RB1 gene in embryonal and alveolar rhabdomyosarcoma: special reference to utility of pRB immunoreactivity in differential diagnosis of rhabdomyosarcoma subtype. 53 62
18386058 2008
16
Adult cutaneous alveolar rhabdomyosarcoma on the face diagnosed by the expression of PAX3-FKHR gene fusion transcripts. 53 62
18705836 2008
17
Rhabdomyosarcoma an ubiquitous pediatric tumour. 53 62
18727437 2008
18
Guilt by association: PAX3-FOXO1 regulates gene expression through selective destabilization of the EGR1 transcription factor. 53 62
18414034 2008
19
[Diagnosis of micrometastases of alveolar rhabdomyosarcoma]. 53 62
18540440 2008
20
Detection of FOXO1 (FKHR) gene break-apart by fluorescence in situ hybridization in formalin-fixed, paraffin-embedded alveolar rhabdomyosarcomas and its clinicopathologic correlation. 53 62
18303411 2008
21
Comparison of the proximal promoter regions of the PAX3 and PAX7 genes. 53 62
17954266 2007
22
New genetic tactics to model alveolar rhabdomyosarcoma in the mouse. 53 62
16140913 2005
23
Gene expression signatures identify rhabdomyosarcoma subtypes and detect a novel t(2;2)(q35;p23) translocation fusing PAX3 to NCOA1. 53 62
15313887 2004
24
Inducible short-term and stable long-term cell culture systems reveal that the PAX3-FKHR fusion oncoprotein regulates CXCR4, PAX3, and PAX7 expression. 53 62
15184910 2004
25
Amplification of CDK4, MDM2, SAS and GLI genes in leiomyosarcoma, alveolar and embryonal rhabdomyosarcoma. 53 62
15024701 2004
26
The MYCN oncoprotein as a drug development target. 53 62
12880971 2003
27
Identification of target genes regulated by PAX3 and PAX3-FKHR in embryogenesis and alveolar rhabdomyosarcoma. 53 62
11863357 2002
28
Transcriptional regulation of IGF-I receptor gene expression by the PAX3-FKHR oncoprotein. 53 62
11735247 2001
29
Regulating the neoplastic phenotype using engineered transcriptional repressors. 53 62
11164187 2001
30
Structural analysis of PAX7 rearrangements in alveolar rhabdomyosarcoma. 53 62
10700864 2000
31
A genetic analysis of PAX3-FKHR, the oncogene of alveolar rhabdomyosarcoma. 53 62
10616906 1999
32
PAX3 gene structure, alternative splicing and evolution. 53 62
10521655 1999
33
PAX3 and PAX7 exhibit conserved cis-acting transcription repression domains and utilize a common gain of function mechanism in alveolar rhabdomyosarcoma. 53 62
10439042 1999
34
The oncogenic potential of the Pax3-FKHR fusion protein requires the Pax3 homeodomain recognition helix but not the Pax3 paired-box DNA binding domain. 53 62
9858583 1999
35
Expression of WT1 in pediatric small cell tumors: report of two cases with a possible mesothelial origin. 53 62
9841704 1999
36
Normal and rearranged PAX3 expression in human rhabdomyosarcoma. 53 62
9546061 1998
37
Chromosomal translocations involving paired box transcription factors in human cancer. 53 62
9570138 1997
38
The genomic organization and the full coding region of the human PAX7 gene. 53 62
9339373 1997
39
Translin recognition site sequences flank chromosome translocation breakpoints in alveolar rhabdomyosarcoma cell lines. 53 62
9294613 1997
40
[Pathologic diagnosis on bone and soft tissue tumors by molecular biological methods]. 53 62
9256013 1997
41
Expression of PAX3 in Ewing's sarcoma family of tumors. 53 62
9169092 1997
42
Novel formation and amplification of the PAX7-FKHR fusion gene in a case of alveolar rhabdomyosarcoma. 53 62
8889501 1996
43
Cytogenetics and tissue culture of small round cell tumors of bone and soft tissue. 53 62
8875708 1996
44
Alpha 2a-interferon-induced differentiation of human alveolar rhabdomyosarcoma cells: correlation with down-regulation of the insulin-like growth factor type I receptor. 53 62
9052994 1996
45
MDM2 amplification in a primary alveolar rhabdomyosarcoma displaying a t(2;13)(q35;q14). 53 62
8751388 1996
46
Structural characterization of the FKHR gene and its rearrangement in alveolar rhabdomyosarcoma. 53 62
8634710 1995
47
The alveolar rhabdomyosarcoma PAX3/FKHR fusion protein is a transcriptional activator. 53 62
7630639 1995
48
Wild type PAX3 protein and the PAX3-FKHR fusion protein of alveolar rhabdomyosarcoma contain potent, structurally distinct transcriptional activation domains. 53 62
7624119 1995
49
Antisense-mediated reduction in insulin-like growth factor-I receptor expression suppresses the malignant phenotype of a human alveolar rhabdomyosarcoma. 53 62
8083365 1994
50
Fusion of PAX3 to a member of the forkhead family of transcription factors in human alveolar rhabdomyosarcoma. 53 62
8221646 1993

Variations for Rhabdomyosarcoma 2

ClinVar genetic disease variations for Rhabdomyosarcoma 2:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PAX7 NM_001135254.2(PAX7):c.220C>T (p.Arg74Ter) SNV Likely Pathogenic
689508 rs1176071790 GRCh37: 1:18960931-18960931
GRCh38: 1:18634437-18634437
2 PAX3 NM_181458.4(PAX3):c.580G>A (p.Glu194Lys) SNV Uncertain Significance
504786 rs148454691 GRCh37: 2:223158892-223158892
GRCh38: 2:222294173-222294173
3 PAX7 NM_001135254.2(PAX7):c.335C>T (p.Pro112Leu) SNV Uncertain Significance
998310 rs142754204 GRCh37: 1:18961618-18961618
GRCh38: 1:18635124-18635124
4 PAX3 NM_181458.4(PAX3):c.540C>G (p.Ser180Arg) SNV Uncertain Significance
504788 rs200679164 GRCh37: 2:223158932-223158932
GRCh38: 2:222294213-222294213

Cosmic variations for Rhabdomyosarcoma 2:

8 (show top 50) (show all 679)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM142605762 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.754A>C p.K252Q 17:7673749-7673749 21
2 COSM106096066 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.871A>C p.K291Q 17:7673749-7673749 21
3 COSM144544530 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.494A>G p.E165G 17:7674920-7674920 21
4 COSM144020071 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.695T>C p.M232T 17:7674235-7674235 21
5 COSM112297123 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.871A>C p.K291Q 17:7673749-7673749 21
6 COSM87906219 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.728T>C p.M243T 17:7674235-7674235 21
7 COSM93229090 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.871A>C p.K291Q 17:7673749-7673749 21
8 COSM145024780 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.611T>C p.M204T 17:7674235-7674235 21
9 COSM121884328 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.332T>C p.M111T 17:7674235-7674235 21
10 COSM143386796 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.134A>G p.E45G 17:7674920-7674920 21
11 COSM143984574 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.394A>C p.K132Q 17:7673749-7673749 21
12 COSM144120969 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.394A>C p.K132Q 17:7673749-7673749 21
13 COSM122781709 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.475A>C p.K159Q 17:7673749-7673749 21
14 COSM111802670 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.871A>C p.K291Q 17:7673749-7673749 21
15 COSM106059837 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.728T>C p.M243T 17:7674235-7674235 21
16 COSM87949760 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.871A>C p.K291Q 17:7673749-7673749 21
17 COSM143413354 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.754A>C p.K252Q 17:7673749-7673749 21
18 COSM111765613 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.728T>C p.M243T 17:7674235-7674235 21
19 COSM112518565 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.611A>G p.E204G 17:7674920-7674920 21
20 COSM144315701 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.611T>C p.M204T 17:7674235-7674235 21
21 COSM106311017 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.611A>G p.E204G 17:7674920-7674920 21
22 COSM145266096 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.494A>G p.E165G 17:7674920-7674920 21
23 COSM142566772 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.611T>C p.M204T 17:7674235-7674235 21
24 COSM144241386 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.578A>G p.E193G 17:7674920-7674920 21
25 COSM93190462 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.728T>C p.M243T 17:7674235-7674235 21
26 COSM121924001 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.475A>C p.K159Q 17:7673749-7673749 21
27 COSM123002879 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.215A>G p.E72G 17:7674920-7674920 21
28 COSM144696619 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.754A>C p.K252Q 17:7673749-7673749 21
29 COSM122740466 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.332T>C p.M111T 17:7674235-7674235 21
30 COSM144169972 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.134A>G p.E45G 17:7674920-7674920 21
31 COSM142813804 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.494A>G p.E165G 17:7674920-7674920 21
32 COSM143195323 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.394A>C p.K132Q 17:7673749-7673749 21
33 COSM112008024 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.611A>G p.E204G 17:7674920-7674920 21
34 COSM144302344 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.134A>G p.E45G 17:7674920-7674920 21
35 COSM143949578 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.251T>C p.M84T 17:7674235-7674235 21
36 COSM142842420 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.728T>C p.M243T 17:7674235-7674235 21
37 COSM143076376 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.611A>G p.E204G 17:7674920-7674920 21
38 COSM143162427 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.251T>C p.M84T 17:7674235-7674235 21
39 COSM144091795 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.251T>C p.M84T 17:7674235-7674235 21
40 COSM144658570 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.611T>C p.M204T 17:7674235-7674235 21
41 COSM88205650 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.611A>G p.E204G 17:7674920-7674920 21
42 COSM145057930 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.754A>C p.K252Q 17:7673749-7673749 21
43 COSM144345669 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.754A>C p.K252Q 17:7673749-7673749 21
44 COSM122278119 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.332T>C p.M111T 17:7674235-7674235 21
45 COSM122153861 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.215A>G p.E72G 17:7674920-7674920 21
46 COSM144930594 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.494A>G p.E165G 17:7674920-7674920 21
47 COSM93438860 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.611A>G p.E204G 17:7674920-7674920 21
48 COSM105901677 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.611A>G p.E204G 17:7674920-7674920 21
49 COSM112259897 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.728T>C p.M243T 17:7674235-7674235 21
50 COSM142871352 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.871A>C p.K291Q 17:7673749-7673749 21

Copy number variations for Rhabdomyosarcoma 2 from CNVD:

6
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 25460 1 18957499 19075360 Amplification PAX7 Alveolar rhabdomyosarcoma
2 76221 13 28900000 50900000 Amplification FOXO1 Alveolar rhabdomyosarcoma
3 141698 2 215300000 221500000 Amplification PAX3 Alveolar rhabdomyosarcoma

Expression for Rhabdomyosarcoma 2

Search GEO for disease gene expression data for Rhabdomyosarcoma 2.

Pathways for Rhabdomyosarcoma 2

Pathways related to Rhabdomyosarcoma 2 according to GeneCards Suite gene sharing:

(show all 19)
# Super pathways Score Top Affiliating Genes
1 12.52 TP53 MDM2 IGF1R FOXO1 CDK4
2
Show member pathways
12.35 TP53 NF1 MDM2 IGF1R CDK4 ALK
3
Show member pathways
12.31 TP53 MDM2 IGF1R CDK4
4
Show member pathways
11.9 TP53 MDM2 IGF1R FOXO1 CDK4
5 11.78 TP53 MDM2 IGF1R
6 11.68 TP53 MDM2 CDK4
7 11.65 TP53 MDM2 FOXO1
8 11.59 TP53 IGF1R CDK4
9 11.53 TP53 NF1 MDM2 FOXO1 CDK4
10 11.5 TP53 FOXO1 CDK4
11
Show member pathways
11.46 TP53 MDM2 FOXO1
12 11.3 TP53 MDM2 CDK4
13 11.23 CDK4 MDM2 TP53
14 11.2 PAX3 MYOD1 MDM2 CDK4
15 11.19 TP53 MYOD1 FOXO1
16 11.16 TP53 MDM2 CDK4
17 11.06 TP53 MDM2 CDK4
18 11 PAX7 PAX3 MYOG MYOD1 DES
19 10.19 IGF1R FOXO1

GO Terms for Rhabdomyosarcoma 2

Cellular components related to Rhabdomyosarcoma 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.53 TP53 PAX7 PAX3 MYOG MYOD1 MYCN

Biological processes related to Rhabdomyosarcoma 2 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of DNA-templated transcription GO:0045893 10.23 WT1 TP53 PAX3 MYOG MYOD1 MYCN
2 negative regulation of apoptotic process GO:0043066 10.22 WT1 TP53 PAX7 MDM2 IGF1R FOXO1
3 regulation of DNA-templated transcription GO:0006355 10.1 FOXO1 MYCN MYOD1 MYOG PAX3 PAX7
4 skeletal muscle tissue development GO:0007519 9.97 NF1 MYOG MYOD1
5 cellular response to estradiol stimulus GO:0071392 9.8 MYOG MYOD1 IGF1R
6 heart development GO:0007507 9.76 WT1 TP53 NF1 MDM2 MB
7 muscle cell fate commitment GO:0042693 9.67 MYOG MYOD1
8 positive regulation of miRNA maturation GO:1903800 9.61 TP53 MYCN
9 cellular response to actinomycin D GO:0072717 9.56 TP53 MDM2
10 muscle organ development GO:0007517 9.5 PAX7 PAX3 MYOG MYOD1
11 anatomical structure development GO:0048856 9.1 PAX7 PAX3 MYOG MYOD1

Molecular functions related to Rhabdomyosarcoma 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.73 WT1 TP53 MYOG MYOD1 MYCN FOXO1
2 DNA-binding transcription factor activity GO:0003700 9.5 WT1 TP53 PAX7 PAX3 MYOG MYOD1

Sources for Rhabdomyosarcoma 2

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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