MCID: RHB003
MIFTS: 62

Rhabdomyosarcoma

Categories: Bone diseases, Cancer diseases, Genetic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Rhabdomyosarcoma

MalaCards integrated aliases for Rhabdomyosarcoma:

Name: Rhabdomyosarcoma 12 74 58 36 29 54 6 43 15 17 71

Characteristics:

Orphanet epidemiological data:

58
rhabdomyosarcoma
Inheritance: Multigenic/multifactorial; Prevalence: 1-9/1000000 (Europe); Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:3247
KEGG 36 H00037
MeSH 43 D012208
NCIt 49 C3359
SNOMED-CT 67 30924005
MESH via Orphanet 44 D012208
ICD10 via Orphanet 33 C49.9
UMLS via Orphanet 72 C0035412
Orphanet 58 ORPHA780
UMLS 71 C0035412

Summaries for Rhabdomyosarcoma

KEGG : 36 Rhabdomyosarcomas (RMSs) are soft tissue sarcomas that are one of the most common neoplasms in children and adolescents. RMSs are presumed to be associated with the skeletal muscle lineage, although those tumors can be present in organs histologically lacking skeletal muscle, like prostate, urinary bladder or gallbladder. RMS comprises a heterogeneous into two major histologic subtypes, embryonal (ERMS) and alveolar (ARMS). Alveolar rhabdomyosarcoma (ARMS) is a pediatric sarcoma that typically occurs in older children predominantly arising in the trunk and extremities, and exhibits a worse prognosis than other types of RMSs. ARMS is associated with 2;13 or 1;13 chromosomal translocations, which generate PAX3-FOXO1A and PAX7-FOXO1A fusion products, respectively. These translocations result in altered expression, function, and subcellular localization of the fusion products relative to the wild-type proteins, and ultimately contribute to oncogenic behavior by modifying growth, differentiation, and apoptosis pathways.

MalaCards based summary : Rhabdomyosarcoma is related to rhabdomyosarcoma 2 and embryonal rhabdomyosarcoma. An important gene associated with Rhabdomyosarcoma is ALK (ALK Receptor Tyrosine Kinase), and among its related pathways/superpathways are Transcriptional misregulation in cancer and Pathways in cancer. The drugs Doxorubicin and Daunorubicin have been mentioned in the context of this disorder. Affiliated tissues include bone, prostate and breast, and related phenotypes are integument and digestive/alimentary

Disease Ontology : 12 A skeletal muscle cancer that arise from skeletal muscle progenitors.

Wikipedia : 74 Rhabdomyosarcoma, or RMS, is an aggressive and highly malignant form of cancer that develops from... more...

Related Diseases for Rhabdomyosarcoma

Diseases in the Rhabdomyosarcoma family:

Rhabdomyosarcoma 2

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

(show top 50) (show all 791)
# Related Disease Score Top Affiliating Genes
1 rhabdomyosarcoma 2 35.5 TP53 RMST PAX7 PAX3 FOXO1 ALK
2 embryonal rhabdomyosarcoma 35.4 TP53 PAX7 PAX3 IGF2 FOXO1 DICER1
3 parameningeal embryonal rhabdomyosarcoma 34.9 TP53 PAX7 PAX3 FOXO1 ALK
4 pleomorphic rhabdomyosarcoma 34.9 TP53 PAX7 PAX3 FOXO1
5 botryoid rhabdomyosarcoma 34.9 PAX3 DICER1
6 prostate embryonal rhabdomyosarcoma 34.9 PAX3 FOXO1
7 spindle cell rhabdomyosarcoma 34.8 PAX7 PAX3
8 breast rhabdomyosarcoma 34.7 PAX3 IGF2 FOXO1
9 orbit embryonal rhabdomyosarcoma 34.7 PAX7 PAX3 FOXO1
10 central nervous system rhabdomyosarcoma 34.7 PAX3 FOXO1
11 beckwith-wiedemann syndrome 33.6 TP53 STIM1 SLC22A18 IGF2
12 soft tissue sarcoma 33.5 TP53 FOXO1
13 li-fraumeni syndrome 33.5 TP53 MSH2 IGF2 BRCA1
14 ectomesenchymoma 33.4 MSH2 FOXO1
15 sarcoma 32.2 TP53 MSH2 FOXO1 DICER1 ALK
16 ewing sarcoma 31.8 TP53 PAX7 PAX3 IGF2 FOXO1
17 neuroblastoma 31.6 TP53 MSH2 MIR29C IGF2 DICER1 BRCA1
18 medulloblastoma 31.6 TP53 PAX3 MSH2 IGF2 FOXO1 DICER1
19 muscle cancer 31.6 TP53 RMST PAX7 PAX3 IGF2 FOXO1
20 rhabdoid tumor predisposition syndrome 1 31.5 TP53 STIM1 IGF2
21 pleuropulmonary blastoma 31.5 TP53 IGF2 DICER1
22 sarcoma, synovial 31.2 PAX3 IGF2 FOXO1
23 skeletal muscle cancer 31.2 TP53 RMST PAX7 PAX3 MIR206 IGF2
24 basal cell nevus syndrome 31.2 TP53 PAX7 PAX3
25 breast disease 31.1 TP53 MSH2 IGF2 BRCA1
26 ganglioneuroblastoma 30.8 TP53 BRCA1 ALK
27 neural tube defects 30.7 TP53 PAX7 PAX3 IGF2 BRCA1
28 pleural disease 30.3 TP53 MIR29C DICER1
29 ovary adenocarcinoma 30.2 TP53 MSH2 MIR29C BRCA1
30 rhabdomyosarcoma, embryonal, 1 12.7
31 prostate rhabdomyosarcoma 12.5
32 rhabdomyosarcoma, embryonal, 2 12.5
33 liver rhabdomyosarcoma 12.5
34 bile duct rhabdomyosarcoma 12.5
35 adult botryoid rhabdomyosarcoma 12.4
36 orbit rhabdomyosarcoma 12.4
37 mediastinum rhabdomyosarcoma 12.3
38 anus rhabdomyosarcoma 12.3
39 childhood botryoid rhabdomyosarcoma 12.3
40 childhood vagina botryoid rhabdomyosarcoma 12.3
41 vagina botryoid rhabdomyosarcoma 12.3
42 adult vagina botryoid rhabdomyosarcoma 12.3
43 gallbladder rhabdomyosarcoma 12.3
44 rhabdomyosarcoma of the cervix uteri 12.2
45 orbit alveolar rhabdomyosarcoma 12.2
46 testis rhabdomyosarcoma 12.2
47 rhabdomyosarcoma of the corpus uteri 12.2
48 vulvovaginal rhabdomyosarcoma 12.2
49 mixed type rhabdomyosarcoma 12.2
50 childhood pleomorphic rhabdomyosarcoma 12.1

Graphical network of the top 20 diseases related to Rhabdomyosarcoma:



Diseases related to Rhabdomyosarcoma

Symptoms & Phenotypes for Rhabdomyosarcoma

MGI Mouse Phenotypes related to Rhabdomyosarcoma:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.96 ALK BRCA1 DICER1 FOXO1 IGF2 MSH2
2 digestive/alimentary MP:0005381 9.87 BRCA1 FOXO1 IGF2 MSH2 PAX3 PAX7
3 neoplasm MP:0002006 9.76 ALK BRCA1 DICER1 FOXO1 MSH2 PAX3
4 respiratory system MP:0005388 9.56 ALK BRCA1 DICER1 IGF2 PAX3 PAX7
5 skeleton MP:0005390 9.32 ALK BRCA1 DICER1 FHL2 FOXO1 IGF2

Drugs & Therapeutics for Rhabdomyosarcoma

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

(show top 50) (show all 262)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
2
Daunorubicin Approved Phase 2, Phase 3 20830-81-3 30323
3
Acyclovir Approved Phase 3 59277-89-3 2022
4
Ribavirin Approved Phase 3 36791-04-5 37542
5
Palivizumab Approved, Investigational Phase 3 188039-54-5
6
Itraconazole Approved, Investigational Phase 3 84625-61-6 55283
7
Captopril Approved Phase 3 62571-86-2 44093
8
Fluconazole Approved, Investigational Phase 3 86386-73-4 3365
9
Amphotericin B Approved, Investigational Phase 3 1397-89-3 14956 5280965
10
Morphine Approved, Investigational Phase 3 57-27-2 5288826
11
Irinotecan Approved, Investigational Phase 3 97682-44-5, 100286-90-6 60838
12
Idarubicin Approved Phase 3 58957-92-9 42890
13
Epirubicin Approved Phase 3 56420-45-2 41867
14
Ifosfamide Approved Phase 3 3778-73-2 3690
15
Histamine Approved, Investigational Phase 3 51-45-6 774
16
Cyproheptadine Approved Phase 3 129-03-3 2913
17
Mycophenolic acid Approved Phase 3 24280-93-1 446541
18
Glutamic acid Approved, Nutraceutical Phase 3 56-86-0 33032
19
Camptothecin Experimental Phase 3 7689-03-4
20
Emodepside Investigational, Vet_approved Phase 3 155030-63-0
21 Trofosfamide Investigational Phase 3 22089-22-1
22
Liposomal doxorubicin Phase 3 31703
23 Antibodies, Monoclonal Phase 3
24 Hormone Antagonists Phase 3
25 HIV Protease Inhibitors Phase 3
26
protease inhibitors Phase 3
27 Cytochrome P-450 CYP3A Inhibitors Phase 3
28 Cytochrome P-450 Enzyme Inhibitors Phase 3
29 Steroid Synthesis Inhibitors Phase 3
30 Antihypertensive Agents Phase 3
31 valacyclovir Phase 3
32
Hydroxyitraconazole Phase 3
33 Angiotensin-Converting Enzyme Inhibitors Phase 3
34 Cytochrome P-450 CYP2C9 Inhibitors Phase 3
35 Antiparasitic Agents Phase 3
36 Antiprotozoal Agents Phase 3
37 Liposomal amphotericin B Phase 3
38 Anti-Bacterial Agents Phase 3
39 Antibiotics, Antitubercular Phase 3
40 Anti-Infective Agents Phase 3
41
Isophosphamide mustard Phase 3 0
42 Gastrointestinal Agents Phase 3
43 Neurotransmitter Agents Phase 3
44 Antipruritics Phase 3
45 Histamine H1 Antagonists Phase 3
46 Serotonin Agents Phase 3
47 Histamine Antagonists Phase 3
48
Histamine Phosphate Phase 3 51-74-1 65513
49 Serotonin Antagonists Phase 3
50 Anti-Allergic Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 313)
# Name Status NCT ID Phase Drugs
1 EpSSG (European Soft Tissue Sarcoma Study Group) Protocol for Non-Metastatic Rhabdomyosarcoma in Children Unknown status NCT00339118 Phase 4 doxorubicin, cytoxan
2 A Pharmacokinetic Study of Actinomycin-D and Vincristine in Children With Cancer Unknown status NCT00491946 Phase 4 Actinomycin-D;Vincristine
3 A Protocol For Nonmetastatic Rhabdomyosarcoma [RMS-2005] Unknown status NCT00379457 Phase 3 carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;ifosfamide;topotecan hydrochloride;vincristine sulfate;vinorelbine tartrate
4 Localized Non-Rhabdomyosarcoma Soft Tissue Sarcomas Unknown status NCT00334854 Phase 3 doxorubicin hydrochloride;ifosfamide
5 Actinomycin D and Vincristine With or Without Radiation Therapy, for Newly Diagnosed Patients With Low-Risk Rhabdomyosarcoma or Undifferentiated Sarcoma: IRS-V Protocol Completed NCT00002995 Phase 3 cyclophosphamide;vincristine sulfate
6 Randomized Study of Vincristine, Dactinomycin and Cyclophosphamide (VAC) Versus VAC Alternating With Vincristine and Irinotecan (VI) for Patients With Intermediate-Risk Rhabdomyosarcoma (RMS) Completed NCT00354835 Phase 3 Irinotecan Hydrochloride;Cyclophosphamide;Vincristine Sulfate
7 Glutamic Acid to Decrease Vincristine Toxicity in Children With Cancer Completed NCT00369564 Phase 3 glutamic acid
8 Intensive Multi-Agent Therapy, Including Dose-Compressed Cycles of Ifosfamide/Etoposide (IE) and Vincristine/Doxorubicin/Cyclophosphamide (VDC) for Patients With High-Risk Rhabdomyosarcoma Completed NCT00354744 Phase 3 cyclophosphamide;doxorubicin hydrochloride;etoposide;ifosfamide;irinotecan hydrochloride;vincristine sulfate
9 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
10 MMT 95 Study For Rhabdomyosarcoma and Other Malignant Soft Tissue Tumors of Childhood Completed NCT00002898 Phase 3 carboplatin;cyclophosphamide;epirubicin hydrochloride;etoposide;ifosfamide;vincristine sulfate
11 A Randomized Double Blinded Trial of Topical Caphosol to Prevent Oral Mucositis in Children Undergoing Hematopoietic Stem Cell Transplantation Completed NCT01305200 Phase 3 supersaturated calcium phosphate rinse
12 Pazopanib Neoadjuvant Trial in Non-Rhabdomyosarcoma Soft Tissue Sarcomas (PAZNTIS): A Phase II/III Randomized Trial of Preoperative Chemoradiation or Preoperative Radiation Plus or Minus Pazopanib (NSC# 737754) Completed NCT02180867 Phase 2, Phase 3 Doxorubicin;Doxorubicin Hydrochloride;Ifosfamide;Pazopanib;Pazopanib Hydrochloride
13 Randomised Trial Of Single Agent Doxorubicin Versus Doxorubicin Plus Ifosfamide In The First Line Treatment Of Advanced Or Metastatic Soft Tissue Sarcoma Completed NCT00061984 Phase 3 doxorubicin hydrochloride;ifosfamide
14 Randomized Phase III Trial of Two Investigational Schedules of Ifosfamide vs. Standard Dose Doxorubicin in Patients With Advanced or Metastatic Soft Tissue Sarcoma Completed NCT00003212 Phase 3 doxorubicin hydrochloride;ifosfamide
15 Randomized Study Comparing Neoadjuvant Chemotherapy Etoposide + Ifosfamide + Adriamycin (EIA) Combined With Regional Hyperthermia (RHT) Versus Neoadjuvant Chemotherapy Alone in the Treatment of High-Risk Soft Tissue Sarcomas in Adults Completed NCT00003052 Phase 3 doxorubicin hydrochloride;etoposide;ifosfamide
16 HSCT-CHESS to Enhance Hematopoietic Transplant Recovery Completed NCT00782145 Phase 3
17 A Phase III Multicenter Study of Cytomegalovirus Prophylaxis With Valacyclovir for the Prevention of Serious Fungal and Bacterial Infections Among Cytomegalovirus Seronegative Recipients of Cytomegalovirus Seropositive Sx Stem Cell Transplants Completed NCT00045292 Phase 3 acyclovir;acyclovir sodium;valacyclovir
18 A Randomized Double-Blind Placebo-Controlled Phase III Study To Evaluate The Safety And Efficacy Of Palivizumab Combined With Aerosolized Ribavirin Compared To Ribavirin Alone To Treat RSV Pneumonia In Patients With Bone Marrow Transplants (BMT) Completed NCT00014391 Phase 3 ribavirin
19 Phase III Study of Captopril in Patients Undergoing Autologous Bone Marrow/Stem Cell Transplantation Completed NCT00004230 Phase 3 captopril;cyclophosphamide
20 A Randomized, Comparative Study of Itraconazole Versus Fluconazole for Prevention of Aspergillus Infections in Peripheral Blood Stem Cell and Marrow Transplant Recipients Completed NCT00003883 Phase 3 fluconazole;itraconazole
21 Music Video and Adolescent/Young Adult Resilience During Transplant Completed NCT00305851 Phase 3
22 A Strategic Study to Determine the Optimal Moment to Initiate Systemic Antifungal Therapy With Ambisome in Granulocytopenic Cancer Patients With Unexplained Fever Refractory to Empirical Antibacterials Completed NCT00003938 Phase 3 liposomal amphotericin B
23 RANDOMISED TRIAL OF ADJUVANT CHEMOTHERAPY WITH HIGH-DOSE DOXORUBICIN, IFOSFAMIDE AND LENOGRASTIM IN HIGH GRADE SOFT TISSUE SARCOMA Completed NCT00002641 Phase 3 doxorubicin hydrochloride;ifosfamide;isolated perfusion
24 Risk-Based Treatment for Non-Rhabdomyosarcoma Soft Tissue Sarcomas (NRSTS) in Patients Under 30 Years of Age Completed NCT00346164 Phase 3 doxorubicin hydrochloride;ifosfamide
25 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) Recruiting NCT02567435 Phase 3 Cyclophosphamide;Irinotecan Hydrochloride;Temsirolimus;Vincristine Sulfate;Vinorelbine
26 A Randomised Phase-III Trial of the Cooperative Weichteilsarkom Study Group (CWS) for Localised High-risk Rhabdomyosarcoma and Localised Rhabdomyosarcoma-like Soft Tissue Sarcoma in Children, Adolescents, and Young Adults Active, not recruiting NCT00876031 Phase 3 trofosfamide, idarubicin, etoposide
27 Vincristine, Dactinomycin, and Lower Doses of Cyclophosphamide With or Without Radiation Therapy for Patients With Newly Diagnosed Low-Risk Embryonal/Botryoid/Spindle Cell Rhabdomyosarcoma Active, not recruiting NCT00075582 Phase 3 dactinomycin;cyclophosphamide;vincristine sulfate
28 Rhabdomyosarcoma and Malignant Soft Tissue Tumours of Childhood Terminated NCT00162695 Phase 3 Ifosfamide, oncovin, actinomycine D, epirubicine, carboplatinum, etoposide
29 Prevention of Cancer/Treatment-Related Weight Loss in Children at High Nutritional Risk Terminated NCT01132547 Phase 3 cyproheptadine hydrochloride
30 Comparative Evaluation of MRI and MDCT for the Detection of Metastic Pulmonary Nodules Terminated NCT00751920 Phase 3
31 A Randomized Study to Evaluate The Efficacy of Mycophenolate Mofetil Added to The Systemic Immunosuppressive Regimen First Used For Treatment of Chronic Graft-Versus-Host Disease Terminated NCT00089141 Phase 3 mycophenolate mofetil;placebo
32 Phase II Trial of VAC2.2/VA Therapy for Low-Risk B Group Patients With Rhabdomyosarcoma Unknown status NCT00245089 Phase 2 cyclophosphamide;vincristine sulfate
33 Phase II Study of Everolimus in Children and Adolescents With Refractory or Relapsed Rhabdomyosarcoma and Other Soft Tissue Sarcomas Unknown status NCT01216839 Phase 2 Everolimus
34 Phase II Trial of Short VAC1.2 Therapy for Low-Risk A Group Patients With Rhabdomyosarcoma Unknown status NCT00245141 Phase 2 cyclophosphamide;vincristine sulfate
35 Phase II Study of Vinorelbine + Cyclofosfamide Association Among Patients Reached of Refractory Tumours or in Relapse Unknown status NCT00180947 Phase 2 Vinorelbine, cyclofosfamide
36 The Use Of Umbilical Cord Blood As A Source Of Hematopoietic Stem Cells Unknown status NCT00084695 Phase 2 busulfan;cyclophosphamide;fludarabine phosphate;melphalan;methylprednisolone
37 Apatinib for Advanced Soft Tissue Sarcoma Patients After Failure of Traditional Therapy: an One-armed, Phase 2, Open-label, Multicenter Prospective Trial Unknown status NCT03104335 Phase 2 Apatinib
38 A Multiinstitutional Trial To Evaluate The Prophylactic Use Of NASA-Developed Light Emitting Diodes For The Prevention Of Oral Mucositis In Bone Marrow Transplant Patients Unknown status NCT00036712 Phase 2
39 Phase II Evaluation of Temodal (Temozolomide, Schering) in Previously Treated Advanced Sarcomas Unknown status NCT00003718 Phase 2 temozolomide
40 Randomized Phase II Study of Brostallicin (PNU-166196A) Versus Doxorubicin as First Line Chemotherapy in Patients With Advanced or Metastatic Soft Tissue Sarcoma Unknown status NCT00410462 Phase 2 brostallicin;doxorubicin hydrochloride
41 A Randomized, Placebo-Controlled Pilot Study of Genistein Supplementation in Pediatric Cancer Patients Receiving Myelosuppressive Chemotherapy Unknown status NCT02624388 Phase 2 Genistein;Placebo
42 A Prospective, Open-Label, Multicenter Study of Lymphoseek® as a Lymphoid Tissue Targeting Agent in Pediatric Patients With Melanoma, Rhabdomyosarcoma, or Other Solid Tumors Who Are Undergoing Lymph Node Mapping Completed NCT02509598 Phase 2 Tc99m tilmanocept;Vital Blue Dye (optional)
43 A Phase II Study Of Intravenous DX-8951f (EXATECAN MESYLATE) Administered Daily For Five Days Every Three Weeks To Pediatric Patients With Relapsed Or Refractory Rhabdomyosarcoma Completed NCT00055939 Phase 2 exatecan mesylate
44 A Phase I/II Study of 166Ho-DOTMP With Peripheral Blood Progenitor Cell Support for Refractory or Recurrent Ewing's Sarcoma Family of Tumors With Bone Disease Completed NCT00006234 Phase 1, Phase 2
45 A Phase II Study of Pemetrexed in Children With Recurrent Malignancies Completed NCT00520936 Phase 2 pemetrexed
46 A Phase II Study Of Trabectedin (ET-743, Yondelis®) in Children With Recurrent Rhabdomyosarcoma, Ewing Sarcoma, or Nonrhabdomyosarcomatous Soft Tissue Sarcomas Completed NCT00070109 Phase 2 trabectedin
47 An Open-label, Multi-center, Randomized Study of the Safety and Effect on Event-free Survival of Bevacizumab in Combination With Standard Chemotherapy in Childhood and Adolescent Patients With Metastatic Rhabdomyosarcoma and Non-rhabdomyosarcoma Soft Tissue Sarcoma Completed NCT00643565 Phase 2 Standard chemotherapy;bevacizumab [Avastin]
48 A Phase II Study of the Raf Kinase and Receptor Tyrosine Kinase Inhibitor Sorafenib in Children and Young Adults With Relapsed/Refractory Rhabdomyosarcoma, Wilms Tumor, Hepatocellular Carcinoma, and Papillary Thyroid Carcinoma Completed NCT01502410 Phase 2 sorafenib tosylate
49 Phase II Trial of Gleevec (Formerly Known as STI571) in Patients With Soft Tissue and Bone Sarcomas: A Multi-Disciplinary Trial of the North American Sarcoma Study Group of the Connective Tissue Oncology Society Completed NCT00031915 Phase 2 imatinib mesylate
50 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

Search NIH Clinical Center for Rhabdomyosarcoma

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Cyclophosphamide
Dacarbazine
Etoposide
etoposide phosphate
Melphalan
Melphalan hydrochloride
Vincristine
Vincristine Sulfate

Cochrane evidence based reviews: rhabdomyosarcoma

Genetic Tests for Rhabdomyosarcoma

Genetic tests related to Rhabdomyosarcoma:

# Genetic test Affiliating Genes
1 Rhabdomyosarcoma 29

Anatomical Context for Rhabdomyosarcoma

MalaCards organs/tissues related to Rhabdomyosarcoma:

40
Bone, Prostate, Breast, Skeletal Muscle, Bone Marrow, Lung, Heart

Publications for Rhabdomyosarcoma

Articles related to Rhabdomyosarcoma:

(show top 50) (show all 10609)
# Title Authors PMID Year
1
Clinical utility gene card for: Alveolar rhabdomyosarcoma. 61 6
21829230 2012
2
MicroRNA-1/206 targets c-Met and inhibits rhabdomyosarcoma development. 54 61 46
19710019 2009
3
The muscle-specific microRNA miR-206 blocks human rhabdomyosarcoma growth in xenotransplanted mice by promoting myogenic differentiation. 61 46
19620785 2009
4
NF-kappaB-YY1-miR-29 regulatory circuitry in skeletal myogenesis and rhabdomyosarcoma. 61 46
18977326 2008
5
Recurrent t(2;2) and t(2;8) translocations in rhabdomyosarcoma without the canonical PAX-FOXO1 fuse PAX3 to members of the nuclear receptor transcriptional coactivator family. 54 61
19953635 2010
6
Increased expression of the hedgehog signaling pathway in pediatric solid malignancies. 54 61
20152358 2010
7
Adult-type rhabdomyosarcoma: analysis of 57 cases with clinicopathologic description, identification of 3 morphologic patterns and prognosis. 54 61
19898221 2009
8
Desensitisation of native and recombinant human urotensin-II receptors. 54 61
19680632 2009
9
SNP genotyping of a sclerosing rhabdomyosarcoma: reveals highly aneuploid profile and a specific MDM2/HMGA2 amplification. 54 61
19454362 2009
10
Coexistence of a clear cell adenocarcinoma and an adenosarcoma with a heterologous rhabdomyosarcoma in an endometriotic cyst of the ovary: a case study. 54 61
19483627 2009
11
Prognostic significance of phosphorylated FOXO1 expression in soft tissue sarcoma. 54 61
19408047 2009
12
Ligand-dependent platelet-derived growth factor receptor (PDGFR)-alpha activation sensitizes rare lung cancer and sarcoma cells to PDGFR kinase inhibitors. 54 61
19366796 2009
13
Opposing control of rhabdomyosarcoma growth and differentiation by myogenin and interleukin 4. 54 61
19372547 2009
14
Expression of insulin-like growth factor pathway proteins in rhabdomyosarcoma: IGF-2 expression is associated with translocation-negative tumors. 54 61
18788888 2009
15
MyoD and E-protein heterodimers switch rhabdomyosarcoma cells from an arrested myoblast phase to a differentiated state. 54 61
19299559 2009
16
The actin-cytoskeleton linker protein ezrin is regulated during osteosarcoma metastasis by PKC. 54 61
19060919 2009
17
WT1 (Wilms tumor 1) peptide immunotherapy for childhood rhabdomyosarcoma: a case report. 54 61
19206012 2009
18
Pax genes in embryogenesis and oncogenesis. 54 61
18627422 2008
19
Characteristic overexpression of the forkhead box transcription factor Foxf1 in Patched-associated tumors. 54 61
19020777 2008
20
Role of class I human leukocyte antigen molecules in early steps of echovirus infection of rhabdomyosarcoma cells. 54 61
18823925 2008
21
Addiction to elevated insulin-like growth factor I receptor and initial modulation of the AKT pathway define the responsiveness of rhabdomyosarcoma to the targeting antibody. 54 61
18829562 2008
22
Diffuse myogenin expression by immunohistochemistry is an independent marker of poor survival in pediatric rhabdomyosarcoma: a tissue microarray study of 71 primary tumors including correlation with molecular phenotype. 54 61
18708938 2008
23
Alterations of RB1 gene in embryonal and alveolar rhabdomyosarcoma: special reference to utility of pRB immunoreactivity in differential diagnosis of rhabdomyosarcoma subtype. 54 61
18386058 2008
24
Rhabdomyosarcoma subtyping by immunohistochemical assessment of myogenin: tissue array study and review of the literature. 54 61
18493875 2008
25
Effects of 4E-BP1 expression on hypoxic cell cycle inhibition and tumor cell proliferation and survival. 54 61
18708753 2008
26
A retrovirus-based system to stably silence GDF-8 expression and enhance myogenic differentiation in human rhabdomyosarcoma cells. 54 61
18563849 2008
27
Clinical significance of CXC chemokine receptor-4 and c-Met in childhood rhabdomyosarcoma. 54 61
18593989 2008
28
A comparative immunohistochemical analysis of small round cell tumors of childhood: utility of peripherin and alpha-internexin as markers for neuroblastomas. 54 61
18528283 2008
29
Cisplatin treatment increases survival and expansion of a highly tumorigenic side-population fraction by upregulating VEGF/Flt1 autocrine signaling. 54 61
18332870 2008
30
Nestin expression in different tumours and its relevance to malignant grade. 54 61
17873113 2008
31
A functional nuclear localization signal in insulin-like growth factor binding protein-6 mediates its nuclear import. 54 61
18039785 2008
32
Detection of FOXO1 (FKHR) gene break-apart by fluorescence in situ hybridization in formalin-fixed, paraffin-embedded alveolar rhabdomyosarcomas and its clinicopathologic correlation. 54 61
18303411 2008
33
MDM2 displays differential activities dependent upon the activation status of NFkappaB. 54 61
17938575 2008
34
Genetic modeling of Ras-induced human rhabdomyosarcoma. 54 61
18413264 2008
35
FGFR1 over-expression in primary rhabdomyosarcoma tumors is associated with hypomethylation of a 5' CpG island and abnormal expression of the AKT1, NOG, and BMP4 genes. 54 61
17696196 2007
36
Phosphorylation profiles of protein kinases in alveolar and embryonal rhabdomyosarcoma. 54 61
17585318 2007
37
Increased fat oxidation and regulation of metabolic genes with ultraendurance exercise. 54 61
17488246 2007
38
PAX3 and PAX3-FKHR promote rhabdomyosarcoma cell survival through downregulation of PTEN. 54 61
17350164 2007
39
Evaluation of no-wash calcium assay kits: enabling tools for calcium mobilization. 54 61
17537987 2007
40
Promotion of cancer cell migration: an insulin-like growth factor (IGF)-independent action of IGF-binding protein-6. 54 61
17519236 2007
41
[Adult prostate sarcoma: a report of 6 cases with clinical analysis]. 54 61
17725305 2007
42
Friend leukaemia integration-1 expression in malignant and benign tumours: a multiple tumour tissue microarray analysis using polyclonal antibody. 54 61
16917000 2007
43
Patched haploinsufficient mouse rhabdomyosarcoma overexpress secreted phosphoprotein 1 and matrix metalloproteinases. 54 61
17467979 2007
44
Imatinib mesylate potentiates topotecan antitumor activity in rhabdomyosarcoma preclinical models. 54 61
17131346 2007
45
Smad4 and ERK2 stimulated by transforming growth factor beta1 in rhabdomyosarcoma. 54 61
17439748 2007
46
Expression of connective tissue growth factor (CTGF/CCN2) in a mouse model of rhabdomyosarcomagenesis. 54 61
18158569 2007
47
Primary osseous rhabdomyosarcoma with focal matrix formation mimicking osteosarcoma. 54 61
17905523 2007
48
Effects of RNAi-mediated Smad4 silencing on growth and apoptosis of human rhabdomyosarcoma cells. 54 61
17016646 2006
49
[Autopsy case of sarcomatoid malignant pleural mesothelioma]. 54 61
17087333 2006
50
Ovarian Sertoli-Leydig cell tumor of intermediate grade with heterologous elements of rhabdomyosarcoma. A case report and a review of the literature. 54 61
16979522 2006

Variations for Rhabdomyosarcoma

ClinVar genetic disease variations for Rhabdomyosarcoma:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ALK NM_004304.5(ALK):c.3673G>A (p.Asp1225Asn)SNV Pathogenic 375886 rs1057519696 2:29436920-29436920 2:29214054-29214054
2 BRCA1 NM_007294.3(BRCA1):c.844_850dup (p.Gln284fs)duplication Pathogenic 55735 rs80357989 17:41246697-41246698 17:43094680-43094681
3 FGFR4 NM_213647.3(FGFR4):c.1649T>A (p.Val550Glu)SNV Likely pathogenic 376151 rs1057519793 5:176522552-176522552 5:177095551-177095551
4 FGFR4 NM_213647.3(FGFR4):c.1605C>A (p.Asn535Lys)SNV Likely pathogenic 376149 rs1057519792 5:176522416-176522416 5:177095415-177095415
5 FGFR4 NM_213647.3(FGFR4):c.1605C>G (p.Asn535Lys)SNV Likely pathogenic 376150 rs1057519792 5:176522416-176522416 5:177095415-177095415
6 BRCA2 NM_000059.3(BRCA2):c.9874C>T (p.Pro3292Ser)SNV Uncertain significance 234197 rs876660917 13:32972524-32972524 13:32398387-32398387
7 TP53 NM_000546.5(TP53):c.704A>G (p.Asn235Ser)SNV Benign 127821 rs144340710 17:7577577-7577577 17:7674259-7674259

Cosmic variations for Rhabdomyosarcoma:

9 (show top 50) (show all 638)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM87906219 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.728T>C p.M243T 17:7674235-7674235 8
2 COSM88149182 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.668C>G p.P223R 17:7674863-7674863 8
3 COSM87949760 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.871A>C p.K291Q 17:7673749-7673749 8
4 COSM88120884 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.739A>G p.N247D 17:7674224-7674224 8
5 COSM87911460 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.961A>T p.K321* 17:7673567-7673567 8
6 COSM87900604 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.637C>T p.R213* 17:7674894-7674894 8
7 COSM87898463 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.733G>T p.G245C 17:7674230-7674230 8
8 COSM88205650 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.611A>G p.E204G 17:7674920-7674920 8
9 COSM87898578 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.733G>A p.G245S 17:7674230-7674230 8
10 COSM87898351 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.743G>A p.R248Q 17:7674220-7674220 8
11 COSM88094731 SOX9 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.76A>G p.M26V 17:72121467-72121467 8
12 COSM97041246 PTPRT soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.2277G>T p.Q759H 20:42248779-42248779 8
13 COSM146438832 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.214G>A p.A72T 12:112450394-112450394 8
14 COSM146438781 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.226G>C p.E76Q 12:112450406-112450406 8
15 COSM146439443 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.1520G>T p.G507V 12:112489084-112489084 8
16 COSM146438825 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.205G>A p.E69K 12:112450385-112450385 8
17 COSM90839845 PTCH1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.208G>A p.A70T 9:95506593-95506593 8
18 COSM90587293 POLE soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.5975G>C p.C1992S 12:132634215-132634215 8
19 COSM96437477 PIK3CG soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.2638G>A p.E880K 7:106883041-106883041 8
20 COSM87132301 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.1624G>A p.E542K 3:179218294-179218294 8
21 COSM87132544 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.1636C>A p.Q546K 3:179218306-179218306 8
22 COSM87132245 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.3140A>G p.H1047R 3:179234297-179234297 8
23 COSM87132308 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.1633G>A p.E545K 3:179218303-179218303 8
24 COSM88818803 PDGFRA soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.3195G>C p.E1065D 4:54295197-54295197 8
25 COSM97687376 NTRK3 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.492C>A p.C164* 15:88137534-88137534 8
26 COSM97107326 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.181C>A p.Q61K 1:114713909-114713909 8
27 COSM97107379 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.35G>A p.G12D 1:114716126-114716126 8
28 COSM97107772 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.37G>C p.G13R 1:114716124-114716124 8
29 COSM97107813 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.34G>A p.G12S 1:114716127-114716127 8
30 COSM97107359 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.182A>G p.Q61R 1:114713908-114713908 8
31 COSM97107717 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.38G>T p.G13V 1:114716123-114716123 8
32 COSM97107724 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.34G>T p.G12C 1:114716127-114716127 8
33 COSM87643288 NOTCH1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.3277T>C p.Y1093H 9:136508280-136508280 8
34 COSM93680412 NF1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.7870G>C p.A2624P 17:31357269-31357269 8
35 COSM84820183 MYOD1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.365T>G p.L122R 11:17720147-17720147 8
36 COSM101727756 MAP3K1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.1337G>A p.C446Y 5:56871945-56871945 8
37 COSM87804028 KRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.38G>A p.G13D 12:25245347-25245347 8
38 COSM87804075 KRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.34G>T p.G12C 12:25245351-25245351 8
39 COSM87804083 KRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.35G>C p.G12A 12:25245350-25245350 8
40 COSM87808527 KRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.182A>T p.Q61L 12:25227342-25227342 8
41 COSM87690443 KMT2D soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.1291G>T p.E431* 12:49052392-49052392 8
42 COSM102156541 KDM6A soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.493C>T p.R165* 23:45020659-45020659 8
43 COSM112988832 HRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.37G>C p.G13R 11:534286-534286 8
44 COSM112988997 HRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.34G>T p.G12C 11:534289-534289 8
45 COSM112989371 HRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.34G>A p.G12S 11:534289-534289 8
46 COSM112988917 HRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.35G>T p.G12V 11:534288-534288 8
47 COSM107501436 FGFR1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.1704G>T p.M568I 8:38417358-38417358 8
48 COSM92447825 ERCC5 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.3256G>A p.G1086R 13:102875598-102875598 8
49 COSM122749648 ENSG00000282278 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.2475G>C p.E825D 4:54295197-54295197 8
50 COSM93104831 EIF4A2 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.854A>G p.K285R 3:186787209-186787209 8

Copy number variations for Rhabdomyosarcoma from CNVD:

7 (show all 19)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 32214 1 34600000 40100000 Amplification MYCL1 Rhabdomyosarcoma
2 48341 11 1 2800000 Loss HRAS Rhabdomyosarcoma
3 55467 11 532242 535550 Mutation HRAS Rhabdomyosarcoma
4 69397 12 54900000 58100000 Amplification or loss GLI Rhabdomyosarcoma
5 69949 12 56600000 58100000 Amplification CDK4 Rhabdomyosarcoma
6 69950 12 56600000 58100000 Amplification SAS Rhabdomyosarcoma
7 79876 13 79000000 101700000 Amplification C13orf25 Rhabdomyosarcoma
8 79877 13 79000000 101700000 Amplification GPC5 Rhabdomyosarcoma
9 106840 17 1 3300000 Loss HIC1 Rhabdomyosarcoma
10 106842 17 1 3300000 Loss Rhabdomyosarcoma
11 106969 17 10700000 22200000 Loss Rhabdomyosarcoma
12 110141 17 314735 515143 Loss Rhabdomyosarcoma
13 127361 19 32400000 43400000 Amplification AKT2 Rhabdomyosarcoma
14 185187 4 187100000 191154276 Loss Rhabdomyosarcoma
15 187611 4 52700000 59500000 Loss PDGFRA Rhabdomyosarcoma
16 187815 4 55095264 55146925 Amplificationlication PDGFRA Rhabdomyosarcoma
17 187856 4 55524095 55606879 Amplificationlication C-Kit Rhabdomyosarcoma
18 239020 8 36500000 45600000 Amplification FGFR1 Rhabdomyosarcoma
19 253524 9 43600000 47300000 Loss Rhabdomyosarcoma

Expression for Rhabdomyosarcoma

Search GEO for disease gene expression data for Rhabdomyosarcoma.

Pathways for Rhabdomyosarcoma

Pathways related to Rhabdomyosarcoma according to KEGG:

36
# Name Kegg Source Accession
1 Transcriptional misregulation in cancer hsa05202

Pathways related to Rhabdomyosarcoma according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1 12.58 TP53 MSH2 IGF2 FOXO1 ALK
2 11.94 TP53 PAX7 PAX3 FOXO1
3 11.75 TP53 MSH2 FOXO1 BRCA1
4 11.72 TP53 IGF2 FOXO1
5 11.61 FOXO1 FHL2 BRCA1
6 11.59 TP53 MIR29C MIR29B2 MIR206 DICER1 BRCA1
7
Show member pathways
11.53 TP53 MSH2 BRCA1
8 11.44 TP53 MSH2 BRCA1
9 11.16 TP53 MSH2 BRCA1
10 10.92 TP53 FOXO1 FHL2
11 10.58 TP53 MIR29C MIR29B2

GO Terms for Rhabdomyosarcoma

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.78 TP53 MIR29C MIR29B2 DICER1
2 determination of adult lifespan GO:0008340 9.51 TP53 MSH2
3 double-strand break repair GO:0006302 9.5 TP53 MSH2 BRCA1
4 regulation of gene expression by genetic imprinting GO:0006349 9.49 IGF2 BRCA1
5 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.46 TP53 BRCA1
6 regulation of cell proliferation GO:0042127 9.46 TP53 FOXO1 BRCA1 ALK
7 postreplication repair GO:0006301 9.43 MSH2 BRCA1
8 enamel mineralization GO:0070166 9.4 STIM1 FOXO1
9 response to UV-B GO:0010224 9.37 TP53 MSH2
10 positive regulation of mitochondrial membrane permeability involved in apoptotic process GO:1902110 9.26 MIR29C MIR29B2
11 negative regulation of circulating fibrinogen levels GO:0061754 8.96 MIR29C MIR29B2
12 regulation of DNA methylation GO:0044030 8.8 MIR29C MIR29B2 BRCA1

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

# Name GO ID Score Top Affiliating Genes
1 ubiquitin protein ligase binding GO:0031625 8.92 TP53 SLC22A18 FOXO1 BRCA1

Sources for Rhabdomyosarcoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....