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 75 59 37 29 55 6 44 15 17 72

Characteristics:

Orphanet epidemiological data:

59
rhabdomyosarcoma
Inheritance: Multigenic/multifactorial; Prevalence: 1-9/1000000 (Europe); Age of onset: Childhood;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:3247
KEGG 37 H00037
MeSH 44 D012208
NCIt 50 C3359
SNOMED-CT 68 30924005
MESH via Orphanet 45 D012208
ICD10 via Orphanet 34 C49.9
UMLS via Orphanet 73 C0035412
Orphanet 59 ORPHA780
UMLS 72 C0035412

Summaries for Rhabdomyosarcoma

KEGG : 37
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 MicroRNAs in cancer. The drugs Dactinomycin and Doxorubicin have been mentioned in the context of this disorder. Affiliated tissues include bone, prostate and bone marrow, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and Synthetic lethal with MLN4924 (a NAE inhibitor)

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

Wikipedia : 75 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 779)
# Related Disease Score Top Affiliating Genes
1 rhabdomyosarcoma 2 35.3 RMST PAX7 PAX3 MYOD1 FOXO1 ALK
2 embryonal rhabdomyosarcoma 35.2 PAX7 PAX3 MYOD1 IGF2 FOXO1 DICER1
3 botryoid rhabdomyosarcoma 35.1 PAX3 MYOD1
4 parameningeal embryonal rhabdomyosarcoma 35.0 TP53 ALK
5 pleomorphic rhabdomyosarcoma 35.0 PAX7 PAX3 MYOD1 FOXO1
6 breast rhabdomyosarcoma 34.8 MYOD1 FOXO1
7 beckwith-wiedemann syndrome 33.6 TP53 STIM1 SLC22A18 MYOD1 IGF2
8 histiocytoma 31.7 TP53 MYOD1 ALK
9 ewing sarcoma 31.6 TP53 PAX7 PAX3 MYOD1 IGF2 FOXO1
10 rhabdoid tumor predisposition syndrome 1 31.5 TP53 STIM1 MYOD1 IGF2
11 muscle cancer 31.4 TP53 PAX7 PAX3 MYOD1 IGF2 FOXO1
12 skeletal muscle cancer 31.2 PAX7 PAX3 MYOD1 IGF2 FOXO1
13 rhabdoid cancer 30.7 TP53 MYOD1
14 breast cancer 30.6 TP53 SLC22A18 RMST MIR29C MIR29B2 MIR206
15 rhabdomyosarcoma, embryonal, 1 12.7
16 spindle cell rhabdomyosarcoma 12.6
17 prostate rhabdomyosarcoma 12.5
18 prostate embryonal rhabdomyosarcoma 12.5
19 rhabdomyosarcoma, embryonal, 2 12.5
20 liver rhabdomyosarcoma 12.5
21 bile duct rhabdomyosarcoma 12.4
22 adult botryoid rhabdomyosarcoma 12.4
23 orbit rhabdomyosarcoma 12.4
24 mediastinum rhabdomyosarcoma 12.3
25 anus rhabdomyosarcoma 12.3
26 childhood botryoid rhabdomyosarcoma 12.3
27 childhood vagina botryoid rhabdomyosarcoma 12.3
28 vagina botryoid rhabdomyosarcoma 12.3
29 adult vagina botryoid rhabdomyosarcoma 12.3
30 orbit embryonal rhabdomyosarcoma 12.3
31 gallbladder rhabdomyosarcoma 12.3
32 central nervous system rhabdomyosarcoma 12.3
33 rhabdomyosarcoma of the cervix uteri 12.2
34 orbit alveolar rhabdomyosarcoma 12.2
35 testis rhabdomyosarcoma 12.2
36 rhabdomyosarcoma of the corpus uteri 12.2
37 vulvovaginal rhabdomyosarcoma 12.2
38 mixed type rhabdomyosarcoma 12.2
39 childhood pleomorphic rhabdomyosarcoma 12.1
40 embryonal extrahepatic bile duct rhabdomyosarcoma 12.1
41 rectum rhabdomyosarcoma 12.1
42 ovary rhabdomyosarcoma 12.1
43 vulvar childhood botryoid-type embryonal rhabdomyosarcoma 12.1
44 soft tissue sarcoma 11.6
45 li-fraumeni syndrome 11.6
46 mismatch repair cancer syndrome 11.6
47 mosaic variegated aneuploidy syndrome 11.6
48 mosaic variegated aneuploidy syndrome 1 11.6
49 ectomesenchymoma 11.6
50 malignant triton tumor 11.5

Graphical network of the top 20 diseases related to Rhabdomyosarcoma:



Diseases related to Rhabdomyosarcoma

Symptoms & Phenotypes for Rhabdomyosarcoma

GenomeRNAi Phenotypes related to Rhabdomyosarcoma according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.4 BRCA1 FOXO1 PAX3 PAX7 SLC22A18 TP53
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.4 BRCA1 FOXO1 PAX3 PAX7 SLC22A18 TP53

MGI Mouse Phenotypes related to Rhabdomyosarcoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.11 BRCA1 DICER1 FHL2 FOXO1 IGF2 MYOD1
2 integument MP:0010771 10.03 ALK BRCA1 DICER1 FOXO1 IGF2 PAX3
3 muscle MP:0005369 9.97 BRCA1 DICER1 FOXO1 IGF2 MYOD1 PAX3
4 neoplasm MP:0002006 9.92 ALK BRCA1 DICER1 FOXO1 MYOD1 PAX3
5 limbs/digits/tail MP:0005371 9.88 BRCA1 DICER1 FOXO1 IGF2 PAX3 TP53
6 no phenotypic analysis MP:0003012 9.8 DICER1 FOXO1 IGF2 MYOD1 PAX3 PAX7
7 normal MP:0002873 9.76 BRCA1 DICER1 FHL2 FOXO1 MYOD1 PAX3
8 respiratory system MP:0005388 9.61 ALK BRCA1 DICER1 IGF2 MYOD1 PAX3
9 skeleton MP:0005390 9.36 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
Dactinomycin Approved, Investigational Phase 4 50-76-0 457193 2019
2
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
3
Daunorubicin Approved Phase 2, Phase 3 20830-81-3 30323
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
Acyclovir Approved Phase 3 59277-89-3 2022
11
Morphine Approved, Investigational Phase 3 57-27-2 5288826
12
Idarubicin Approved Phase 3 58957-92-9 42890
13
Ifosfamide Approved Phase 3 3778-73-2 3690
14
Epirubicin Approved Phase 3 56420-45-2 41867
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 Hormone Antagonists Phase 3
24 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
25 HIV Protease Inhibitors Phase 3
26
protease inhibitors Phase 3
27 14-alpha Demethylase Inhibitors Phase 3
28 Cytochrome P-450 CYP3A Inhibitors Phase 3
29 Cytochrome P-450 Enzyme Inhibitors Phase 3
30 Steroid Synthesis Inhibitors Phase 3
31 Antihypertensive Agents Phase 3
32
Hydroxyitraconazole Phase 3
33 Angiotensin-Converting Enzyme Inhibitors Phase 3
34 Cytochrome P-450 CYP2C9 Inhibitors Phase 3
35 Cytochrome P-450 CYP2C19 Inhibitors Phase 3
36 Liposomal amphotericin B Phase 3
37 Antiparasitic Agents Phase 3
38 Antiprotozoal Agents Phase 3
39 valacyclovir Phase 3
40 Anti-Bacterial Agents Phase 3
41 Antibiotics, Antitubercular Phase 3
42 Anti-Infective Agents Phase 3
43
Isophosphamide mustard Phase 3 0
44 Gastrointestinal Agents Phase 3
45 Neurotransmitter Agents Phase 3
46 Anti-Allergic Agents Phase 3
47 Serotonin Antagonists Phase 3
48 Histamine H1 Antagonists Phase 3
49 Histamine Antagonists Phase 3
50 Serotonin Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 300)
# 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 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
4 A Protocol For Nonmetastatic Rhabdomyosarcoma [RMS-2005] Unknown status NCT00379457 Phase 3 carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;ifosfamide;topotecan hydrochloride;vincristine sulfate;vinorelbine tartrate
5 Localized Non-Rhabdomyosarcoma Soft Tissue Sarcomas Unknown status NCT00334854 Phase 3 doxorubicin hydrochloride;ifosfamide
6 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
7 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
8 Glutamic Acid to Decrease Vincristine Toxicity in Children With Cancer Completed NCT00369564 Phase 3 glutamic acid
9 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
10 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
11 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
12 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
13 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
14 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
15 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
16 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
17 HSCT-CHESS to Enhance Hematopoietic Transplant Recovery Completed NCT00782145 Phase 3
18 Music Video and Adolescent/Young Adult Resilience During Transplant Completed NCT00305851 Phase 3
19 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
20 Phase III Study of Captopril in Patients Undergoing Autologous Bone Marrow/Stem Cell Transplantation Completed NCT00004230 Phase 3 captopril;cyclophosphamide
21 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
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 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
26 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
27 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
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 Non-randomized Single-center Study Phase II Evaluating the Efficacy and Toxicity of Autologous Dendritic Cell Vaccine Loaded With Allogeneic Tumor Lysate Expression of Cancer Testis Antigens in Patients With Soft Tissue Sarcoma Unknown status NCT01883518 Phase 1, Phase 2
37 The Use Of Umbilical Cord Blood As A Source Of Hematopoietic Stem Cells Unknown status NCT00084695 Phase 2 busulfan;cyclophosphamide;fludarabine phosphate;melphalan;methylprednisolone
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 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
40 Phase II Evaluation of Temodal (Temozolomide, Schering) in Previously Treated Advanced Sarcomas Unknown status NCT00003718 Phase 2 temozolomide
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 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]
47 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
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 72 / NDF-RT 51 :


Cyclophosphamide
Cyclophosphamide
Dacarbazine
Dactinomycin
Etoposide
etoposide phosphate
Irinotecan
Melphalan
Melphalan hydrochloride
Vincristine
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:

41
Bone, Prostate, Bone Marrow, Skeletal Muscle, Breast, Heart, Lung

Publications for Rhabdomyosarcoma

Articles related to Rhabdomyosarcoma:

(show top 50) (show all 10415)
# Title Authors PMID Year
1
Clinical utility gene card for: Alveolar rhabdomyosarcoma. 38 71
21829230 2012
2
MicroRNA-1/206 targets c-Met and inhibits rhabdomyosarcoma development. 9 38 88
19710019 2009
3
The muscle-specific microRNA miR-206 blocks human rhabdomyosarcoma growth in xenotransplanted mice by promoting myogenic differentiation. 38 88
19620785 2009
4
NF-kappaB-YY1-miR-29 regulatory circuitry in skeletal myogenesis and rhabdomyosarcoma. 38 88
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. 9 38
19953635 2010
6
Increased expression of the hedgehog signaling pathway in pediatric solid malignancies. 9 38
20152358 2010
7
Adult-type rhabdomyosarcoma: analysis of 57 cases with clinicopathologic description, identification of 3 morphologic patterns and prognosis. 9 38
19898221 2009
8
Desensitisation of native and recombinant human urotensin-II receptors. 9 38
19680632 2009
9
SNP genotyping of a sclerosing rhabdomyosarcoma: reveals highly aneuploid profile and a specific MDM2/HMGA2 amplification. 9 38
19454362 2009
10
Prognostic significance of phosphorylated FOXO1 expression in soft tissue sarcoma. 9 38
19408047 2009
11
Coexistence of a clear cell adenocarcinoma and an adenosarcoma with a heterologous rhabdomyosarcoma in an endometriotic cyst of the ovary: a case study. 9 38
19483627 2009
12
Ligand-dependent platelet-derived growth factor receptor (PDGFR)-alpha activation sensitizes rare lung cancer and sarcoma cells to PDGFR kinase inhibitors. 9 38
19366796 2009
13
Opposing control of rhabdomyosarcoma growth and differentiation by myogenin and interleukin 4. 9 38
19372547 2009
14
MyoD and E-protein heterodimers switch rhabdomyosarcoma cells from an arrested myoblast phase to a differentiated state. 9 38
19299559 2009
15
Expression of insulin-like growth factor pathway proteins in rhabdomyosarcoma: IGF-2 expression is associated with translocation-negative tumors. 9 38
18788888 2009
16
The actin-cytoskeleton linker protein ezrin is regulated during osteosarcoma metastasis by PKC. 9 38
19060919 2009
17
WT1 (Wilms tumor 1) peptide immunotherapy for childhood rhabdomyosarcoma: a case report. 9 38
19206012 2009
18
Pax genes in embryogenesis and oncogenesis. 9 38
18627422 2008
19
Characteristic overexpression of the forkhead box transcription factor Foxf1 in Patched-associated tumors. 9 38
19020777 2008
20
Role of class I human leukocyte antigen molecules in early steps of echovirus infection of rhabdomyosarcoma cells. 9 38
18823925 2008
21
Alterations of RB1 gene in embryonal and alveolar rhabdomyosarcoma: special reference to utility of pRB immunoreactivity in differential diagnosis of rhabdomyosarcoma subtype. 9 38
18386058 2008
22
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. 9 38
18829562 2008
23
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. 9 38
18708938 2008
24
Rhabdomyosarcoma subtyping by immunohistochemical assessment of myogenin: tissue array study and review of the literature. 9 38
18493875 2008
25
Effects of 4E-BP1 expression on hypoxic cell cycle inhibition and tumor cell proliferation and survival. 9 38
18708753 2008
26
A retrovirus-based system to stably silence GDF-8 expression and enhance myogenic differentiation in human rhabdomyosarcoma cells. 9 38
18563849 2008
27
Clinical significance of CXC chemokine receptor-4 and c-Met in childhood rhabdomyosarcoma. 9 38
18593989 2008
28
A comparative immunohistochemical analysis of small round cell tumors of childhood: utility of peripherin and alpha-internexin as markers for neuroblastomas. 9 38
18528283 2008
29
Cisplatin treatment increases survival and expansion of a highly tumorigenic side-population fraction by upregulating VEGF/Flt1 autocrine signaling. 9 38
18332870 2008
30
Nestin expression in different tumours and its relevance to malignant grade. 9 38
17873113 2008
31
Detection of FOXO1 (FKHR) gene break-apart by fluorescence in situ hybridization in formalin-fixed, paraffin-embedded alveolar rhabdomyosarcomas and its clinicopathologic correlation. 9 38
18303411 2008
32
A functional nuclear localization signal in insulin-like growth factor binding protein-6 mediates its nuclear import. 9 38
18039785 2008
33
Genetic modeling of Ras-induced human rhabdomyosarcoma. 9 38
18413264 2008
34
MDM2 displays differential activities dependent upon the activation status of NFkappaB. 9 38
17938575 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. 9 38
17696196 2007
36
Phosphorylation profiles of protein kinases in alveolar and embryonal rhabdomyosarcoma. 9 38
17585318 2007
37
Increased fat oxidation and regulation of metabolic genes with ultraendurance exercise. 9 38
17488246 2007
38
Evaluation of no-wash calcium assay kits: enabling tools for calcium mobilization. 9 38
17537987 2007
39
Promotion of cancer cell migration: an insulin-like growth factor (IGF)-independent action of IGF-binding protein-6. 9 38
17519236 2007
40
PAX3 and PAX3-FKHR promote rhabdomyosarcoma cell survival through downregulation of PTEN. 9 38
17350164 2007
41
[Adult prostate sarcoma: a report of 6 cases with clinical analysis]. 9 38
17725305 2007
42
Friend leukaemia integration-1 expression in malignant and benign tumours: a multiple tumour tissue microarray analysis using polyclonal antibody. 9 38
16917000 2007
43
Patched haploinsufficient mouse rhabdomyosarcoma overexpress secreted phosphoprotein 1 and matrix metalloproteinases. 9 38
17467979 2007
44
Smad4 and ERK2 stimulated by transforming growth factor beta1 in rhabdomyosarcoma. 9 38
17439748 2007
45
Imatinib mesylate potentiates topotecan antitumor activity in rhabdomyosarcoma preclinical models. 9 38
17131346 2007
46
Expression of connective tissue growth factor (CTGF/CCN2) in a mouse model of rhabdomyosarcomagenesis. 9 38
18158569 2007
47
Primary osseous rhabdomyosarcoma with focal matrix formation mimicking osteosarcoma. 9 38
17905523 2007
48
Effects of RNAi-mediated Smad4 silencing on growth and apoptosis of human rhabdomyosarcoma cells. 9 38
17016646 2006
49
[Autopsy case of sarcomatoid malignant pleural mesothelioma]. 9 38
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. 9 38
16979522 2006

Variations for Rhabdomyosarcoma

ClinVar genetic disease variations for Rhabdomyosarcoma:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ALK NM_004304.5(ALK): c.3673G> A (p.Asp1225Asn) single nucleotide variant Pathogenic rs1057519696 2:29436920-29436920 2:29214054-29214054
2 BRCA1 NM_007294.3(BRCA1): c.844_850dup (p.Gln284fs) duplication Pathogenic rs80357989 17:41246698-41246704 17:43094681-43094687
3 FGFR4 NM_213647.3(FGFR4): c.1649T> A (p.Val550Glu) single nucleotide variant Likely pathogenic rs1057519793 5:176522552-176522552 5:177095551-177095551
4 FGFR4 NM_213647.3(FGFR4): c.1605C> A (p.Asn535Lys) single nucleotide variant Likely pathogenic rs1057519792 5:176522416-176522416 5:177095415-177095415
5 FGFR4 NM_213647.3(FGFR4): c.1605C> G (p.Asn535Lys) single nucleotide variant Likely pathogenic rs1057519792 5:176522416-176522416 5:177095415-177095415
6 TP53 NM_000546.5(TP53): c.704A> G (p.Asn235Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs144340710 17:7577577-7577577 17:7674259-7674259
7 BRCA2 NM_000059.3(BRCA2): c.9874C> T (p.Pro3292Ser) single nucleotide variant Uncertain significance rs876660917 13:32972524-32972524 13:32398387-32398387

Cosmic variations for Rhabdomyosarcoma:

9 (show top 50) (show all 155)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM45253 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.611A>G p.E204G 17:7674920-7674920 8
2 COSM45255 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.668C>G p.P223R 17:7674863-7674863 8
3 COSM45256 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.871A>C p.K291Q 17:7673749-7673749 8
4 COSM45005 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.739A>G p.N247D 17:7674224-7674224 8
5 COSM11081 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.733G>T p.G245C 17:7674230-7674230 8
6 COSM10662 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.743G>A p.R248Q 17:7674220-7674220 8
7 COSM44536 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.728T>C p.M243T 17:7674235-7674235 8
8 COSM10654 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.637C>T p.R213* 17:7674894-7674894 8
9 COSM44720 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.961A>T p.K321* 17:7673567-7673567 8
10 COSM6932 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.733G>A p.G245S 17:7674230-7674230 8
11 COSM6986214 SOX9 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.76A>G p.M26V 17:72121467-72121467 8
12 COSM6986215 PTPRT soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.2277G>T p.Q759H 20:42248779-42248779 8
13 COSM13016 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.226G>C p.E76Q 12:112450406-112450406 8
14 COSM14271 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.1508G>T p.G503V 12:112489084-112489084 8
15 COSM13014 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.214G>A p.A72T 12:112450394-112450394 8
16 COSM13013 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.205G>A p.E69K 12:112450385-112450385 8
17 COSM6986208 PTCH1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.208G>A p.A70T 9:95506593-95506593 8
18 COSM6910708 POLE soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.5975G>C p.C1992S 12:132634215-132634215 8
19 COSM1083818 PIK3CG soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.2638G>A p.E880K 7:106883041-106883041 8
20 COSM766 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.1636C>A p.Q546K 3:179218306-179218306 8
21 COSM763 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.1633G>A p.E545K 3:179218303-179218303 8
22 COSM760 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.1624G>A p.E542K 3:179218294-179218294 8
23 COSM775 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.3140A>G p.H1047R 3:179234297-179234297 8
24 COSM6914067 PDGFRA soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.3195G>C p.E1065D 4:54295197-54295197 8
25 COSM6964921 NTRK3 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.492C>A p.C164* 15:88137534-88137534 8
26 COSM580 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.181C>A p.Q61K 1:114713909-114713909 8
27 COSM574 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.38G>T p.G13V 1:114716123-114716123 8
28 COSM584 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.182A>G p.Q61R 1:114713908-114713908 8
29 COSM585 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.183A>T p.Q61H 1:114713907-114713907 8
30 COSM564 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.35G>A p.G12D 1:114716126-114716126 8
31 COSM569 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.37G>C p.G13R 1:114716124-114716124 8
32 COSM563 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.34G>A p.G12S 1:114716127-114716127 8
33 COSM562 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.34G>T p.G12C 1:114716127-114716127 8
34 COSM6910706 NOTCH1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.3277T>C p.Y1093H 9:136508280-136508280 8
35 COSM6933086 NF1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.7870G>C p.A2624P 17:31357269-31357269 8
36 COSM516 KRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.34G>T p.G12C 12:25245351-25245351 8
37 COSM532 KRAS soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.38G>A p.G13D 12:25245347-25245347 8
38 COSM522 KRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.35G>C p.G12A 12:25245350-25245350 8
39 COSM553 KRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.182A>T p.Q61L 12:25227342-25227342 8
40 COSM6930430 KMT2D soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.1291G>T p.E431* 12:49052392-49052392 8
41 COSM2965310 KDM6A soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.493C>T p.R165* 23:45020659-45020659 8
42 COSM496 HRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.181C>A p.Q61K 11:533875-533875 8
43 COSM486 HRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.37G>C p.G13R 11:534286-534286 8
44 COSM483 HRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.35G>T p.G12V 11:534288-534288 8
45 COSM481 HRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.34G>T p.G12C 11:534289-534289 8
46 COSM480 HRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.34G>A p.G12S 11:534289-534289 8
47 COSM5702570 FGFR1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.1611G>T p.M537I 8:38417358-38417358 8
48 COSM1251469 ERCC5 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.3256G>A p.G1086R 13:102875598-102875598 8
49 COSM1042370 EIF4A2 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.854A>G p.K285R 3:186787209-186787209 8
50 COSM6909274 DOT1L soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.1826T>A p.L609Q 19:2214499-2214499 8

Copy number variations for Rhabdomyosarcoma from CNVD:

7 (show all 19)
# CNVD ID Chromosom 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 los s 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 Amplificationlicatio n PDGFRA Rhabdomyosarcoma
17 187856 4 55524095 55606879 Amplificationlicatio n 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:

37
# Name Kegg Source Accession
1 Transcriptional misregulation in cancer hsa05202

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 apoptotic process GO:0043066 9.8 TP53 PAX7 FOXO1 FHL2
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.8 TP53 PAX7 PAX3 MYOD1 IGF2 FOXO1
3 muscle organ development GO:0007517 9.69 PAX7 PAX3 MYOD1
4 striated muscle cell differentiation GO:0051146 9.48 MYOD1 IGF2
5 regulation of gene expression by genetic imprinting GO:0006349 9.46 IGF2 BRCA1
6 myotube differentiation GO:0014902 9.43 STIM1 MYOD1
7 positive regulation of transcription, DNA-templated GO:0045893 9.43 TP53 PAX3 MYOD1 FOXO1 FHL2 BRCA1
8 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.4 TP53 BRCA1
9 enamel mineralization GO:0070166 9.37 STIM1 FOXO1
10 positive regulation of mitochondrial membrane permeability involved in apoptotic process GO:1902110 9.32 MIR29C MIR29B2
11 negative regulation of circulating fibrinogen levels GO:0061754 9.16 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 9.02 TP53 SLC22A18 MYOD1 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 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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