MCID: RHB003
MIFTS: 66

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 44 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 44 D012208
NCIt 50 C3359
SNOMED-CT 67 302847003
MESH via Orphanet 45 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 embryonal rhabdomyosarcoma and li-fraumeni syndrome. An important gene associated with Rhabdomyosarcoma is TP53 (Tumor Protein P53), and among its related pathways/superpathways are Transcriptional misregulation in cancer and TCR Signaling (Qiagen). The drugs Sirolimus and Clotrimazole have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, prostate and bone marrow, and related phenotypes are Decreased sensitivity to paclitaxel and integument

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

Wikipedia : 74 Rhabdomyosarcoma (RMS), is a highly aggressive form of cancer that develops from mesenchymal cells that... 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 898)
# Related Disease Score Top Affiliating Genes
1 embryonal rhabdomyosarcoma 33.6 TP53 HRAS DICER1
2 li-fraumeni syndrome 32.8 TP53 PTEN PMS2 NF1 MSH6 MSH2
3 parameningeal embryonal rhabdomyosarcoma 32.7 TP53 ALK
4 mismatch repair cancer syndrome 1 32.6 PTEN PMS2 MSH6 MSH2
5 sarcoma 32.2 TP53 MSH2 HRAS DICER1 ALK
6 neurofibromatosis 31.8 PMS2 NF1 MSH6 MSH2 HRAS
7 neuroblastoma 31.7 TP53 PTEN NF1 MIR29C HRAS DICER1
8 medulloblastoma 31.6 TP53 PTEN NF1 MSH6 HRAS DICER1
9 liposarcoma 31.5 TP53 PTEN NF1 MSH2
10 muscle cancer 31.4 TP53 RMST NF1 HRAS ALK
11 carcinosarcoma 31.4 TP53 PTEN HRAS
12 neurofibromatosis, type i 31.3 TP53 SDHA PTEN PMS2 NF1 MSH6
13 glioma 31.2 TP53 PTEN NF1 BRCA2
14 lymphoma 31.2 TP53 PMS2 MSH6 CBL BRCA2 ALK
15 adenocarcinoma 31.2 TP53 PTEN MSH6 MSH2 HRAS BRCA2
16 leukemia, acute myeloid 31.2 TP53 PTEN NF1 HRAS DICER1 CBL
17 lynch syndrome 31.2 TP53 PTEN PMS2 MSH6 MSH2 HRAS
18 small cell carcinoma 31.2 TP53 PTEN BRCA2 ALK
19 myelodysplastic syndrome 31.1 TP53 PTEN NF1 HRAS DICER1 CBL
20 glioblastoma 31.1 TP53 PTEN NF1 MSH2 HRAS BRCA2
21 colorectal adenocarcinoma 31.0 TP53 PTEN PMS2 MSH6 MSH2 HRAS
22 skeletal muscle cancer 31.0 TP53 RMST NF1 MIR29C MIR206 HRAS
23 peripheral nervous system disease 31.0 TP53 PTEN NF1 HRAS ALK
24 basal cell nevus syndrome 31.0 TP53 PTEN NF1 HRAS BRCA1
25 rasopathy 30.9 TP53 PTEN NF1 HRAS CBL
26 endometrial cancer 30.9 TP53 PTEN PMS2 MSH6 MSH2 HRAS
27 uterine carcinosarcoma 30.9 TP53 PTEN HRAS
28 neurofibroma 30.9 TP53 PTEN NF1
29 breast disease 30.9 TP53 MSH2 BRCA2 BRCA1
30 in situ carcinoma 30.9 TP53 PTEN HRAS BRCA2 BRCA1
31 nevus, epidermal 30.9 PTEN NF1 HRAS
32 rectum adenocarcinoma 30.8 TP53 PMS2 MSH6 MSH2 HRAS
33 juvenile myelomonocytic leukemia 30.8 TP53 PTEN NF1 HRAS CBL
34 dedifferentiated liposarcoma 30.8 TP53 PTEN NF1
35 breast cancer 30.7 TP53 RMST PTEN PMS2 NF1 MSH6
36 hereditary nonpolyposis colon cancer 30.7 PMS2 MSH6 MSH2 BRCA2 BRCA1
37 squamous cell papilloma 30.7 TP53 HRAS
38 tetraploidy 30.7 BRCA2 BRCA1
39 gastrointestinal stromal tumor 30.7 TP53 SDHA PTEN NF1 CBL
40 duodenum cancer 30.7 TP53 PMS2 NF1 MSH6 MSH2 HRAS
41 oligodendroglioma 30.6 TP53 PTEN PMS2 NF1 MSH6 MSH2
42 cervical adenosarcoma 30.6 TP53 PMS2 MSH6 MSH2 DICER1
43 gliosarcoma 30.6 TP53 PTEN NF1 MSH2 HRAS
44 dysgerminoma 30.6 PTEN BRCA2 BRCA1
45 familial adenomatous polyposis 30.5 TP53 MSH6 MSH2 HRAS
46 ovary adenocarcinoma 30.5 TP53 PTEN HRAS BRCA2 BRCA1
47 transitional cell carcinoma 30.5 TP53 PTEN MSH2 HRAS
48 pituitary carcinoma 30.5 TP53 PMS2 BRCA2
49 mixed glioma 30.5 TP53 PTEN NF1
50 cystadenocarcinoma 30.5 TP53 HRAS BRCA1

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 Decreased sensitivity to paclitaxel GR00112-A-0 8.62 NF1 PTEN

MGI Mouse Phenotypes related to Rhabdomyosarcoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 10.11 ALK BRCA1 BRCA2 CBL DICER1 HRAS
2 endocrine/exocrine gland MP:0005379 10.1 ALK BRCA1 BRCA2 CBL DICER1 HRAS
3 digestive/alimentary MP:0005381 10.03 BRCA1 BRCA2 HRAS MSH2 NF1 PMS2
4 neoplasm MP:0002006 10 ALK BRCA1 BRCA2 DICER1 HRAS MSH2
5 limbs/digits/tail MP:0005371 9.87 BRCA1 BRCA2 CBL DICER1 NF1 PTEN
6 pigmentation MP:0001186 9.63 ALK BRCA1 CBL NF1 PTEN TP53
7 respiratory system MP:0005388 9.56 ALK BRCA1 CBL DICER1 HRAS NF1
8 skeleton MP:0005390 9.32 ALK BRCA1 BRCA2 CBL DICER1 HRAS

Drugs & Therapeutics for Rhabdomyosarcoma

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

(show top 50) (show all 216)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sirolimus Approved, Investigational Phase 3 53123-88-9 5284616 6436030
2
Clotrimazole Approved, Vet_approved Phase 3 23593-75-1 2812
3
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
4
Vinorelbine Approved, Investigational Phase 3 71486-22-1 60780 44424639
5
Morphine Approved, Investigational Phase 3 57-27-2 5288826
6
Idarubicin Approved Phase 3 58957-92-9 42890
7
Dactinomycin Approved, Investigational Phase 3 50-76-0 2019 457193
8
Mechlorethamine Approved, Investigational Phase 2, Phase 3 51-75-2 4033
9
Daunorubicin Approved Phase 2, Phase 3 20830-81-3 30323
10
Etoposide Approved Phase 3 33419-42-0 36462
11
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
12
Ifosfamide Approved Phase 3 3778-73-2 3690
13
Epirubicin Approved Phase 3 56420-45-2 41867
14
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
15 Trofosfamide Investigational Phase 3 22089-22-1
16 Hormones Phase 3
17 Calcium, Dietary Phase 3
18 Antifungal Agents Phase 3
19 Cactinomycin Phase 3
20 Etoposide phosphate Phase 3
21 Antimitotic Agents Phase 3
22 Tubulin Modulators Phase 3
23
Isophosphamide mustard Phase 3 100427
24
Calcium Nutraceutical Phase 3 7440-70-2 271
25
Trabectedin Approved, Investigational Phase 2 114899-77-3 108150
26
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
27 Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
28
Etanercept Approved, Investigational Phase 2 185243-69-0
29
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
30
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
31
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
32
Cobalt Approved, Experimental Phase 2 7440-48-4 104729
33
afatinib Approved Phase 1, Phase 2 850140-72-6, 439081-18-2 10184653
34
Romidepsin Approved, Investigational Phase 2 128517-07-7 5352062
35
Oxaliplatin Approved, Investigational Phase 2 61825-94-3 5310940 9887054 6857599 43805
36
Indinavir Approved Phase 2 150378-17-9 5362440
37
Pemetrexed Approved, Investigational Phase 2 150399-23-8, 137281-23-3 446556 60843
38
Levoleucovorin Approved, Investigational Phase 2 68538-85-2 149436
39
Melphalan Approved Phase 2 148-82-3 4053 460612
40
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
41
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177 70789204
42
Lenvatinib Approved, Investigational Phase 1, Phase 2 417716-92-8
43
Dasatinib Approved, Investigational Phase 1, Phase 2 302962-49-8 3062316
44
Olaparib Approved Phase 2 763113-22-0 23725625
45
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
46
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
47
Mebendazole Approved, Vet_approved Phase 2 31431-39-7 4030
48
Piperazine Approved, Vet_approved Phase 2 110-85-0 4837
49
Palbociclib Approved, Investigational Phase 2 571190-30-2 11431660 5005498 5330286
50
Gemcitabine Approved Phase 2 95058-81-4 60750

Interventional clinical trials:

(show top 50) (show all 197)
# 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 Randomized Study of Vincristine, Dactinomycin and Cyclophosphamide (VAC) Versus VAC Alternating With Vincristine and Irinotecan (VI) for Patients With Intermediate-Risk Rhabdomyosarcoma (RMS) Unknown status NCT00354835 Phase 3 Irinotecan Hydrochloride;Cyclophosphamide;Vincristine Sulfate
3 Risk-Based Treatment for Non-Rhabdomyosarcoma Soft Tissue Sarcomas (NRSTS) in Patients Under 30 Years of Age Unknown status NCT00346164 Phase 3 doxorubicin hydrochloride;ifosfamide
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 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
7 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
8 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
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 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
11 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
12 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
13 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
14 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) Active, not recruiting NCT02180867 Phase 2, Phase 3 Doxorubicin;Doxorubicin Hydrochloride;Ifosfamide;Pazopanib;Pazopanib Hydrochloride
15 Rhabdomyosarcoma and Malignant Soft Tissue Tumours of Childhood Terminated NCT00162695 Phase 3 Ifosfamide, oncovin, actinomycine D, epirubicine, carboplatinum, etoposide
16 Efficacy and Safety of Radiotherapy Combined With Apatinib Mesylate in the Treatment of Rhabdomyosarcoma in Children Unknown status NCT03868852 Phase 1, Phase 2 Apatinib mesylate tablets
17 Phase II Study of Vinorelbine + Cyclofosfamide Association Among Patients Reached of Refractory Tumours or in Relapse Unknown status NCT00180947 Phase 2 Vinorelbine, cyclofosfamide
18 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
19 Phase II Trial of Short VAC1.2 Therapy for Low-Risk A Group Patients With Rhabdomyosarcoma Unknown status NCT00245141 Phase 2 cyclophosphamide;vincristine sulfate
20 Phase II Trial of VAC2.2/VA Therapy for Low-Risk B Group Patients With Rhabdomyosarcoma Unknown status NCT00245089 Phase 2 cyclophosphamide;vincristine sulfate
21 Haploidentical Stem Cell Transplantation Followed by NK Cell Infusion in Patients With High-risk Solid Tumors Who Failed Autologous Stem Cell Transplantation Unknown status NCT01807468 Phase 2
22 A Randomized, Placebo-Controlled Pilot Study of Genistein Supplementation in Pediatric Cancer Patients Receiving Myelosuppressive Chemotherapy Unknown status NCT02624388 Phase 2 Genistein;Placebo
23 Phase I/II Trial of Torisel and Liposomal Doxorubicin in Patients With Advanced Soft Tissue and Bone Sarcomas Completed NCT00949325 Phase 1, Phase 2 temsirolimus plus liposomal doxorubicin
24 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
25 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
26 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]
27 A Phase I/II Safety and Exploratory Pharmacogenomic/Pharmacodynamic Study of Intravenous Temsirolimus (CCI-779) in Pediatric Subjects With Relapsed/Refractory Solid Tumors Completed NCT00106353 Phase 1, Phase 2 Torisel
28 A Five-Tier, Phase 2 Open-Label Study of IMC-A12 Administered as a Single Agent Every 2 Weeks in Patients With Previously-Treated, Advanced or Metastatic Soft Tissue and Ewing's Sarcoma/PNET Completed NCT00668148 Phase 2
29 Soluble Tumor Necrosis Factor Receptor: Enbrel® (Etanercept) for the Treatment of Acute Non-Infectious Pulmonary Dysfunction (Idiopathic Pneumonia Syndrome) Following Allogeneic Stem Cell Transplantation Completed NCT00309907 Phase 2 methylprednisolone
30 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
31 A Phase II Study of MLN8237, a Selective Aurora A Kinase Inhibitor in Children With Recurrent/Refractory Solid Tumors and Leukemias Completed NCT01154816 Phase 2 Alisertib
32 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
33 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
34 Phase II Trial of Irinotecan in Children With Refractory Solid Tumors Completed NCT00004078 Phase 2 irinotecan hydrochloride
35 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
36 A Phase II Study of Cixutumumab (IMC-A12) in Combination With Temsirolimus in Pediatric Patients With Recurrent or Refractory Solid Tumors Completed NCT01614795 Phase 2 Temsirolimus
37 A Phase II Study of IMC-A12 (Anti-IGF-I Receptor Monoclonal Antibody, NSC #742460) in Children With Relapsed/Refractory Solid Tumors Completed NCT00831844 Phase 2
38 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)
39 International Randomized Phase II Trial of the Combination of Vincristine and Irinotecan With or Without Temozolomide (VI or VIT) in Children and Adults With Refractory or Relapsed Rhabdomyosarcoma Completed NCT01355445 Phase 2 Vincristine, Irinotecan;Vincristine, Irinotecan, Temozolomide
40 A Phase II Trial of Dasatinib in Advanced Sarcomas Completed NCT00464620 Phase 2 Dasatinib
41 A Phase II "Up-Front Window Study" of Irinotecan (CPT-11) Followed by Multimodal, Multiagent, Therapy for Selected Children and Adolescents With Newly Diagnosed Stage 4/Clinical Group IV Rhabdomyosarcoma: An IRS-V Study Completed NCT00003955 Phase 2 cyclophosphamide;irinotecan hydrochloride;vincristine sulfate
42 Phase II Study of Neoadjuvant Vincristine, Ifosfamide, Doxorubicin, and AND G-CSF in Children With Advanced Stage Non-Rhabdomyosarcoma Soft Tissue Sarcomas Completed NCT00002804 Phase 2 doxorubicin hydrochloride;ifosfamide;mesna;vincristine sulfate
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 MMT 98 Study For Metastatic Disease Rhabdomyosarcoma And Other Malignant Soft Tissue Sarcoma Of Childhood Completed NCT00025441 Phase 2 carboplatin;cyclophosphamide;doxorubicin hydrochloride;epirubicin hydrochloride;etoposide;ifosfamide;vincristine sulfate
45 New Therapeutic Strategies for Patients With Ewing's Sarcoma Family of Tumors, High Risk Rhabdomyosarcoma, and Neuroblastoma Completed NCT00001335 Phase 2 ADR-529;Topotecan;G-CSF
46 Phase I/II Open Label, Dose Escalation Trial to Determine the MTD, Safety, PK and Efficacy of Afatinib Monotherapy in Children Aged ≥1 Year to <18 Years With Recurrent/Refractory Neuroectodermal Tumours, Rhabdomyosarcoma and/or Other Solid Tumours With Known ErbB Pathway Deregulation Regardless of Tumour Histology Completed NCT02372006 Phase 1, Phase 2 afatinib
47 A Phase 1/2, Multicenter, Open-label, Dose-finding Study to Assess the Safety, Tolerability, and Preliminary Efficacy of Weekly Nab-paclitaxel in Pediatric Patients With Recurrent or Refractory Solid Tumors. Completed NCT01962103 Phase 1, Phase 2 nab-paclitaxel;nab-paclitaxel
48 A Phase I/II Trial of Recombinant Human Thrombopoietin in Children With Malignant Solid Tumors and Lymphoma Receiving Ifosfamide, Carboplatin and Etoposide Completed NCT00187109 Phase 1, Phase 2 Recombinant Human Thrombopoietin
49 Natural Killer Cell Selected T-cell Depleted Donor Lymphocyte Infusions (NK-DLI) in Patients After HLA-haploidentical Allogeneic Stem Cell Transplantation Completed NCT01386619 Phase 1, Phase 2
50 Pilot Differentiation of Bone Sarcomas and Osteomyelitis With Ferumoxytol-Enhanced MRI Completed NCT01336803 Phase 2 Feraheme

Search NIH Clinical Center for Rhabdomyosarcoma

Inferred drug relations via UMLS 71 / NDF-RT 51 :


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 (disease) 29

Anatomical Context for Rhabdomyosarcoma

MalaCards organs/tissues related to Rhabdomyosarcoma:

40
Skeletal Muscle, Prostate, Bone Marrow, Cervix, Lymph Node, Uterus, Bone

Publications for Rhabdomyosarcoma

Articles related to Rhabdomyosarcoma:

(show top 50) (show all 11010)
# Title Authors PMID Year
1
MicroRNA-1/206 targets c-Met and inhibits rhabdomyosarcoma development. 54 61 47
19710019 2009
2
The muscle-specific microRNA miR-206 blocks human rhabdomyosarcoma growth in xenotransplanted mice by promoting myogenic differentiation. 47 61
19620785 2009
3
NF-kappaB-YY1-miR-29 regulatory circuitry in skeletal myogenesis and rhabdomyosarcoma. 47 61
18977326 2008
4
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. 61 54
19953635 2010
5
Increased expression of the hedgehog signaling pathway in pediatric solid malignancies. 61 54
20152358 2010
6
Adult-type rhabdomyosarcoma: analysis of 57 cases with clinicopathologic description, identification of 3 morphologic patterns and prognosis. 54 61
19898221 2009
7
Desensitisation of native and recombinant human urotensin-II receptors. 61 54
19680632 2009
8
SNP genotyping of a sclerosing rhabdomyosarcoma: reveals highly aneuploid profile and a specific MDM2/HMGA2 amplification. 54 61
19454362 2009
9
Prognostic significance of phosphorylated FOXO1 expression in soft tissue sarcoma. 54 61
19408047 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
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
12
Opposing control of rhabdomyosarcoma growth and differentiation by myogenin and interleukin 4. 61 54
19372547 2009
13
MyoD and E-protein heterodimers switch rhabdomyosarcoma cells from an arrested myoblast phase to a differentiated state. 61 54
19299559 2009
14
Expression of insulin-like growth factor pathway proteins in rhabdomyosarcoma: IGF-2 expression is associated with translocation-negative tumors. 61 54
18788888 2009
15
The actin-cytoskeleton linker protein ezrin is regulated during osteosarcoma metastasis by PKC. 61 54
19060919 2009
16
WT1 (Wilms tumor 1) peptide immunotherapy for childhood rhabdomyosarcoma: a case report. 61 54
19206012 2009
17
Pax genes in embryogenesis and oncogenesis. 61 54
18627422 2008
18
Characteristic overexpression of the forkhead box transcription factor Foxf1 in Patched-associated tumors. 54 61
19020777 2008
19
Role of class I human leukocyte antigen molecules in early steps of echovirus infection of rhabdomyosarcoma cells. 54 61
18823925 2008
20
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. 61 54
18829562 2008
21
Alterations of RB1 gene in embryonal and alveolar rhabdomyosarcoma: special reference to utility of pRB immunoreactivity in differential diagnosis of rhabdomyosarcoma subtype. 61 54
18386058 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
Effects of 4E-BP1 expression on hypoxic cell cycle inhibition and tumor cell proliferation and survival. 61 54
18708753 2008
24
Rhabdomyosarcoma subtyping by immunohistochemical assessment of myogenin: tissue array study and review of the literature. 61 54
18493875 2008
25
A retrovirus-based system to stably silence GDF-8 expression and enhance myogenic differentiation in human rhabdomyosarcoma cells. 61 54
18563849 2008
26
A comparative immunohistochemical analysis of small round cell tumors of childhood: utility of peripherin and alpha-internexin as markers for neuroblastomas. 61 54
18528283 2008
27
Clinical significance of CXC chemokine receptor-4 and c-Met in childhood rhabdomyosarcoma. 54 61
18593989 2008
28
Cisplatin treatment increases survival and expansion of a highly tumorigenic side-population fraction by upregulating VEGF/Flt1 autocrine signaling. 61 54
18332870 2008
29
Nestin expression in different tumours and its relevance to malignant grade. 54 61
17873113 2008
30
Detection of FOXO1 (FKHR) gene break-apart by fluorescence in situ hybridization in formalin-fixed, paraffin-embedded alveolar rhabdomyosarcomas and its clinicopathologic correlation. 61 54
18303411 2008
31
A functional nuclear localization signal in insulin-like growth factor binding protein-6 mediates its nuclear import. 61 54
18039785 2008
32
MDM2 displays differential activities dependent upon the activation status of NFkappaB. 61 54
17938575 2008
33
Genetic modeling of Ras-induced human rhabdomyosarcoma. 54 61
18413264 2008
34
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. 61 54
17696196 2007
35
Phosphorylation profiles of protein kinases in alveolar and embryonal rhabdomyosarcoma. 54 61
17585318 2007
36
Increased fat oxidation and regulation of metabolic genes with ultraendurance exercise. 54 61
17488246 2007
37
Promotion of cancer cell migration: an insulin-like growth factor (IGF)-independent action of IGF-binding protein-6. 54 61
17519236 2007
38
Evaluation of no-wash calcium assay kits: enabling tools for calcium mobilization. 54 61
17537987 2007
39
PAX3 and PAX3-FKHR promote rhabdomyosarcoma cell survival through downregulation of PTEN. 54 61
17350164 2007
40
[Adult prostate sarcoma: a report of 6 cases with clinical analysis]. 54 61
17725305 2007
41
Friend leukaemia integration-1 expression in malignant and benign tumours: a multiple tumour tissue microarray analysis using polyclonal antibody. 54 61
16917000 2007
42
Patched haploinsufficient mouse rhabdomyosarcoma overexpress secreted phosphoprotein 1 and matrix metalloproteinases. 61 54
17467979 2007
43
Smad4 and ERK2 stimulated by transforming growth factor beta1 in rhabdomyosarcoma. 54 61
17439748 2007
44
Imatinib mesylate potentiates topotecan antitumor activity in rhabdomyosarcoma preclinical models. 54 61
17131346 2007
45
Expression of connective tissue growth factor (CTGF/CCN2) in a mouse model of rhabdomyosarcomagenesis. 54 61
18158569 2007
46
Primary osseous rhabdomyosarcoma with focal matrix formation mimicking osteosarcoma. 61 54
17905523 2007
47
Effects of RNAi-mediated Smad4 silencing on growth and apoptosis of human rhabdomyosarcoma cells. 61 54
17016646 2006
48
[Autopsy case of sarcomatoid malignant pleural mesothelioma]. 54 61
17087333 2006
49
Ovarian Sertoli-Leydig cell tumor of intermediate grade with heterologous elements of rhabdomyosarcoma. A case report and a review of the literature. 61 54
16979522 2006
50
Plakoglobin is differentially expressed in alveolar and embryonal rhabdomyosarcoma and is regulated by DNA methylation and histone acetylation. 61 54
16537559 2006

Variations for Rhabdomyosarcoma

ClinVar genetic disease variations for Rhabdomyosarcoma:

6 (show top 50) (show all 53)
# 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 TP53 NM_000546.5(TP53):c.892G>T (p.Glu298Ter) SNV Pathogenic 93323 rs201744589 17:7577046-7577046 17:7673728-7673728
3 TP53 NM_000546.5(TP53):c.794T>C (p.Leu265Pro) SNV Pathogenic 245777 rs879253942 17:7577144-7577144 17:7673826-7673826
4 TP53 NM_000546.5(TP53):c.730G>A (p.Gly244Ser) SNV Pathogenic 376600 rs1057519989 17:7577551-7577551 17:7674233-7674233
5 TP53 NM_000546.6(TP53):c.473G>A (p.Arg158His) SNV Pathogenic 141963 rs587782144 17:7578457-7578457 17:7675139-7675139
6 TP53 NM_000546.5(TP53):c.451C>A (p.Pro151Thr) SNV Pathogenic 12369 rs28934874 17:7578479-7578479 17:7675161-7675161
7 TP53 NM_000546.6(TP53):c.375G>A (p.Thr125=) SNV Pathogenic 177825 rs55863639 17:7579312-7579312 17:7675994-7675994
8 TP53 NM_001126112.2(TP53):c.363_364TG[1] (p.Val122fs) Microsatellite Pathogenic 127809 rs587780067 17:7579321-7579322 17:7676003-7676004
9 NF1 NM_000267.3(NF1):c.2041C>T (p.Arg681Ter) SNV Pathogenic 188280 rs768638173 17:29553492-29553492 17:31226474-31226474
10 NF1 NM_000267.3(NF1):c.3826C>T (p.Arg1276Ter) SNV Pathogenic 237556 rs199474742 17:29562746-29562746 17:31235728-31235728
11 NF1 NM_000267.3(NF1):c.4922G>A (p.Trp1641Ter) SNV Pathogenic 573015 rs1567611375 17:29652987-29652987 17:31325969-31325969
12 NF1 NM_001042492.3(NF1):c.5305C>T (p.Arg1769Ter) SNV Pathogenic 228381 rs876657714 17:29654553-29654553 17:31327535-31327535
13 NF1 NM_000267.3(NF1):c.5546G>A (p.Arg1849Gln) SNV Pathogenic 185354 rs786202112 17:29654857-29654857 17:31327839-31327839
14 NF1 NM_001042492.3(NF1):c.6704+1G>T SNV Pathogenic 547680 rs1060500376 17:29664899-29664899 17:31337881-31337881
15 NF1 NM_000267.3(NF1):c.7096_7101del Microsatellite Pathogenic 220715 rs864622639 17:29670116-29670121 17:31343098-31343103
16 TP53 NM_000546.6(TP53):c.818G>A (p.Arg273His) SNV Pathogenic 12366 rs28934576 17:7577120-7577120 17:7673802-7673802
17 TP53 NM_000546.6(TP53):c.743G>A (p.Arg248Gln) SNV Pathogenic 12356 rs11540652 17:7577538-7577538 17:7674220-7674220
18 TP53 NM_000546.6(TP53):c.451C>T (p.Pro151Ser) SNV Pathogenic 12370 rs28934874 17:7578479-7578479 17:7675161-7675161
19 NF1 NM_000267.3(NF1):c.1466A>G (p.Tyr489Cys) SNV Pathogenic 354 rs137854557 17:29541542-29541542 17:31214524-31214524
20 HRAS NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) SNV Pathogenic 12603 rs104894230 11:534288-534288 11:534288-534288
21 HRAS NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) SNV Pathogenic 12602 rs104894229 11:534289-534289 11:534289-534289
22 DICER1 NM_030621.4(DICER1):c.2026C>T (p.Arg676Ter) SNV Pathogenic 242054 rs878855246 14:95579443-95579443 14:95113106-95113106
23 MSH2 NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter) SNV Pathogenic 90554 rs63749849 2:47656951-47656951 2:47429812-47429812
24 BRCA2 NM_000059.3(BRCA2):c.462_463del (p.Arg155_Asp156insTer) Deletion Pathogenic 51684 rs80359459 13:32900273-32900274 13:32326136-32326137
25 BRCA2 NM_000059.4(BRCA2):c.3103G>T (p.Glu1035Ter) SNV Pathogenic 51400 rs80358556 13:32911595-32911595 13:32337458-32337458
26 BRCA2 NM_000059.4(BRCA2):c.3599_3600del Deletion Pathogenic 51493 rs80359391 13:32912090-32912091 13:32337953-32337954
27 BRCA2 NM_000059.4(BRCA2):c.3847_3848del Deletion Pathogenic 37859 rs80359405 13:32912338-32912339 13:32338201-32338202
28 BRCA2 NM_000059.3(BRCA2):c.7133C>G (p.Ser2378Ter) SNV Pathogenic 38085 rs276174889 13:32929123-32929123 13:32354986-32354986
29 BRCA2 NM_000059.4(BRCA2):c.7857G>A (p.Trp2619Ter) SNV Pathogenic 38122 rs80359011 13:32936711-32936711 13:32362574-32362574
30 SDHA NM_004168.4(SDHA):c.2T>G (p.Met1Arg) SNV Pathogenic 422382 rs750380279 5:218472-218472 5:218357-218357
31 SDHA NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) SNV Pathogenic 142601 rs142441643 5:223624-223624 5:223509-223509
32 BRCA1 NM_007294.4(BRCA1):c.5173_5176GAAA[1] (p.Arg1726fs) Microsatellite Pathogenic 37644 rs80357867 17:41215363-41215366 17:43063346-43063349
33 CBL NM_005188.3(CBL):c.1259G>A (p.Arg420Gln) SNV Pathogenic 13810 rs267606708 11:119149251-119149251 11:119278541-119278541
34 DICER1 NM_030621.4(DICER1):c.1174C>T (p.Arg392Ter) SNV Pathogenic 429141 rs1131691211 14:95590735-95590735 14:95124398-95124398
35 MSH6 NM_000179.2(MSH6):c.2300C>T (p.Thr767Ile) SNV Pathogenic 141058 rs587781462 2:48027422-48027422 2:47800283-47800283
36 PMS2 NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter) SNV Pathogenic 9237 rs63751466 7:6017260-6017260 7:5977629-5977629
37 PTEN NM_000314.7(PTEN):c.388C>T (p.Arg130Ter) SNV Pathogenic 7819 rs121909224 10:89692904-89692904 10:87933147-87933147
38 BRCA1 NM_007294.4(BRCA1):c.844_850dup (p.Gln284fs) Duplication Pathogenic 55735 rs80357989 17:41246697-41246698 17:43094680-43094681
39 PAX7 NM_001135254.2(PAX7):c.220C>T (p.Arg74Ter) SNV Likely pathogenic 689508 rs1176071790 1:18960931-18960931 1:18634437-18634437
40 SDHC NM_003001.5(SDHC):c.386G>A (p.Trp129Ter) SNV Likely pathogenic 978229 1:161326611-161326611 1:161356821-161356821
41 ALK NM_004304.5(ALK):c.4298_4299del (p.Glu1433fs) Deletion Likely pathogenic 978809 2:29416654-29416655 2:29193788-29193789
42 PTCH1 NM_001083602.3(PTCH1):c.-257C>G SNV Likely pathogenic 978808 9:98279010-98279010 9:95516728-95516728
43 CBL NM_005188.4(CBL):c.1495C>T (p.Arg499Ter) SNV Likely pathogenic 978807 11:119155742-119155742 11:119285032-119285032
44 FGFR4 NM_213647.3(FGFR4):c.1605C>G (p.Asn535Lys) SNV Likely pathogenic 376150 rs1057519792 5:176522416-176522416 5:177095415-177095415
45 FGFR4 NM_213647.3(FGFR4):c.1649T>A (p.Val550Glu) SNV Likely pathogenic 376151 rs1057519793 5:176522552-176522552 5:177095551-177095551
46 NF1 NM_001042492.3(NF1):c.3520C>T (p.Gln1174Ter) SNV Likely pathogenic 978806 17:29560043-29560043 17:31233025-31233025
47 TP53 NM_000546.5(TP53):c.560-1G>C SNV Likely pathogenic 492748 rs1202793339 17:7578290-7578290 17:7674972-7674972
48 FGFR4 NM_213647.3(FGFR4):c.1605C>A (p.Asn535Lys) SNV Likely pathogenic 376149 rs1057519792 5:176522416-176522416 5:177095415-177095415
49 PAX3 NM_181458.4(PAX3):c.580G>A (p.Glu194Lys) SNV Uncertain significance 504786 rs148454691 2:223158892-223158892 2:222294173-222294173
50 PAX3 NM_181458.4(PAX3):c.540C>G (p.Ser180Arg) SNV Uncertain significance 504788 rs200679164 2:223158932-223158932 2:222294213-222294213

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 COSM93183630 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.743G>A p.R248Q 17:7674220-7674220 4
2 COSM112255322 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.637C>T p.R213* 17:7674894-7674894 4
3 COSM122271658 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.337G>T p.G113C 17:7674230-7674230 4
4 COSM145017865 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.616G>A p.G206S 17:7674230-7674230 4
5 COSM142605762 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.754A>C p.K252Q 17:7673749-7673749 4
6 COSM144013587 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.700G>A p.G234S 17:7674230-7674230 4
7 COSM143576669 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.551C>G p.P184R 17:7674863-7674863 4
8 COSM106096066 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.871A>C p.K291Q 17:7673749-7673749 4
9 COSM144544530 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.494A>G p.E165G 17:7674920-7674920 4
10 COSM144020071 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.695T>C p.M232T 17:7674235-7674235 4
11 COSM112297123 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.871A>C p.K291Q 17:7673749-7673749 4
12 COSM144015364 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.604C>T p.R202* 17:7674894-7674894 4
13 COSM143371076 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.616G>A p.G206S 17:7674230-7674230 4
14 COSM142845635 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.961A>T p.K321* 17:7673567-7673567 4
15 COSM87906219 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.728T>C p.M243T 17:7674235-7674235 4
16 COSM93229090 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.871A>C p.K291Q 17:7673749-7673749 4
17 COSM145024780 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.611T>C p.M204T 17:7674235-7674235 4
18 COSM121884328 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.332T>C p.M111T 17:7674235-7674235 4
19 COSM121878773 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.241C>T p.R81* 17:7674894-7674894 4
20 COSM105622516 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.637C>T p.R213* 17:7674894-7674894 4
21 COSM143386796 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.134A>G p.E45G 17:7674920-7674920 4
22 COSM112446896 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.739A>G p.N247D 17:7674224-7674224 4
23 COSM122105750 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.272C>G p.P91R 17:7674863-7674863 4
24 COSM142838784 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.637C>T p.R213* 17:7674894-7674894 4
25 COSM143984574 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.394A>C p.K132Q 17:7673749-7673749 4
26 COSM143946062 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.160C>T p.R54* 17:7674894-7674894 4
27 COSM144651337 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.616G>A p.G206S 17:7674230-7674230 4
28 COSM145221104 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.551C>G p.P184R 17:7674863-7674863 4
29 COSM144120969 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.394A>C p.K132Q 17:7673749-7673749 4
30 COSM122781709 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.475A>C p.K159Q 17:7673749-7673749 4
31 COSM111802670 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.871A>C p.K291Q 17:7673749-7673749 4
32 COSM88149182 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.668C>G p.P223R 17:7674863-7674863 4
33 COSM142570943 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.844A>T p.K282* 17:7673567-7673567 4
34 COSM105620276 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.743G>A p.R248Q 17:7674220-7674220 4
35 COSM142837352 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.743G>A p.R248Q 17:7674220-7674220 4
36 COSM106059837 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.728T>C p.M243T 17:7674235-7674235 4
37 COSM87949760 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.871A>C p.K291Q 17:7673749-7673749 4
38 COSM143413354 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.754A>C p.K252Q 17:7673749-7673749 4
39 COSM144182541 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.706A>G p.N236D 17:7674224-7674224 4
40 COSM122271749 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.337G>A p.G113S 17:7674230-7674230 4
41 COSM111760544 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.637C>T p.R213* 17:7674894-7674894 4
42 COSM111765613 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.728T>C p.M243T 17:7674235-7674235 4
43 COSM112264430 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.961A>T p.K321* 17:7673567-7673567 4
44 COSM142771096 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.551C>G p.P184R 17:7674863-7674863 4
45 COSM121876092 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.337G>T p.G113C 17:7674230-7674230 4
46 COSM122734259 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.337G>T p.G113C 17:7674230-7674230 4
47 COSM121888820 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.565A>T p.K189* 17:7673567-7673567 4
48 COSM111943171 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.739A>G p.N247D 17:7674224-7674224 4
49 COSM122735989 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.241C>T p.R81* 17:7674894-7674894 4
50 COSM112518565 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.611A>G p.E204G 17:7674920-7674920 4

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 MYCL 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 GLI1 Rhabdomyosarcoma
5 69949 12 56600000 58100000 Amplification CDK4 Rhabdomyosarcoma
6 69950 12 56600000 58100000 Amplification TSPAN31 Rhabdomyosarcoma
7 79876 13 79000000 101700000 Amplification MIR17HG 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 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 23)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.8 TP53 MSH6 MSH2 HRAS BRCA2 BRCA1
2
Show member pathways
12.69 TP53 PTEN MSH6 MSH2 HRAS CBL
3
Show member pathways
12.66 TP53 PTEN HRAS BRCA2 BRCA1
4 12.65 TP53 PTEN MSH6 MSH2 HRAS CBL
5
Show member pathways
12.58 TP53 MSH6 MSH2 BRCA2 BRCA1
6
Show member pathways
12.51 TP53 PTEN NF1 HRAS CBL
7 12.39 TP53 MSH6 MSH2 BRCA2 BRCA1
8
Show member pathways
12.28 TP53 PTEN HRAS CBL
9 12.25 TP53 PTEN MIR29C MIR29B2 MIR206 HRAS
10 11.96 TP53 PTEN PMS2 MSH2
11
Show member pathways
11.88 TP53 PTEN NF1 MSH6 HRAS CBL
12 11.84 TP53 PTEN NF1 HRAS
13
Show member pathways
11.77 PMS2 MSH6 MSH2
14 11.75 PMS2 BRCA2 BRCA1
15
Show member pathways
11.69 TP53 MSH6 MSH2 BRCA2 BRCA1
16 11.69 TP53 PTEN NF1 MSH6 MSH2 BRCA2
17 11.62 TP53 MSH6 MSH2 BRCA1
18 11.61 TP53 PTEN HRAS
19 11.55 TP53 PTEN HRAS BRCA1
20 11.48 PTEN HRAS CBL
21 11.32 TP53 PTEN MSH6 MSH2 BRCA1
22 11.15 PMS2 MSH6 MSH2
23 11.1 TP53 MIR29C MIR29B2

GO Terms for Rhabdomyosarcoma

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

# Name GO ID Score Top Affiliating Genes
1 MutSalpha complex GO:0032301 8.96 MSH6 MSH2
2 mismatch repair complex GO:0032300 8.8 PMS2 MSH6 MSH2

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

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 10.04 TP53 PTEN MIR29B2 HRAS BRCA1
2 DNA repair GO:0006281 10.01 PMS2 MSH6 MSH2 BRCA2 BRCA1
3 positive regulation of apoptotic process GO:0043065 10 TP53 PTEN NF1 MIR29C MIR29B2
4 negative regulation of cell proliferation GO:0008285 9.95 TP53 PTEN NF1 MIR29C MIR29B2 HRAS
5 negative regulation of cell migration GO:0030336 9.86 PTEN NF1 MIR29C MIR29B2
6 Ras protein signal transduction GO:0007265 9.82 TP53 NF1 HRAS
7 negative regulation of G1/S transition of mitotic cell cycle GO:2000134 9.8 PTEN MIR29C MIR29B2
8 negative regulation of protein kinase B signaling GO:0051898 9.8 PTEN MIR29C MIR29B2
9 mismatch repair GO:0006298 9.72 PMS2 MSH6 MSH2
10 intrinsic apoptotic signaling pathway GO:0097193 9.71 TP53 MSH6 HRAS
11 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 9.7 TP53 MSH2 BRCA2
12 response to gamma radiation GO:0010332 9.69 TP53 CBL BRCA2
13 cell aging GO:0007569 9.67 TP53 HRAS BRCA2
14 postreplication repair GO:0006301 9.65 MSH2 BRCA1
15 negative regulation of cell cycle G1/S phase transition GO:1902807 9.65 PTEN MIR29C
16 forebrain morphogenesis GO:0048853 9.64 PTEN NF1
17 positive regulation of mitochondrial membrane permeability involved in apoptotic process GO:1902110 9.63 MIR29C MIR29B2
18 response to X-ray GO:0010165 9.63 TP53 MSH2 BRCA2
19 negative regulation of gene expression GO:0010629 9.63 TP53 MIR29C MIR29B2 MIR206 HRAS DICER1
20 negative regulation of neuroblast proliferation GO:0007406 9.62 TP53 NF1
21 positive regulation of helicase activity GO:0051096 9.61 MSH6 MSH2
22 determination of adult lifespan GO:0008340 9.61 TP53 MSH6 MSH2
23 negative regulation of circulating fibrinogen levels GO:0061754 9.59 MIR29C MIR29B2
24 maintenance of DNA repeat elements GO:0043570 9.58 MSH6 MSH2
25 chordate embryonic development GO:0043009 9.58 BRCA2 BRCA1
26 regulation of DNA methylation GO:0044030 9.58 MIR29C MIR29B2 BRCA1
27 somatic recombination of immunoglobulin gene segments GO:0016447 9.57 MSH6 MSH2
28 double-strand break repair GO:0006302 9.56 TP53 MSH2 BRCA2 BRCA1
29 somatic hypermutation of immunoglobulin genes GO:0016446 9.54 PMS2 MSH6 MSH2
30 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.5 TP53 BRCA2 BRCA1
31 cellular response to DNA damage stimulus GO:0006974 9.5 TP53 PMS2 MSH6 MSH2 CBL BRCA2
32 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 8.92 MSH6 MSH2 BRCA2 BRCA1

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

# Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 9.77 TP53 PTEN MSH6 MSH2 BRCA1
2 damaged DNA binding GO:0003684 9.63 MSH6 MSH2 BRCA1
3 mRNA 3'-UTR binding GO:0003730 9.62 TP53 MIR29C MIR29B2 MIR206
4 MutLalpha complex binding GO:0032405 9.43 MSH6 MSH2
5 oxidized purine DNA binding GO:0032357 9.4 MSH6 MSH2
6 guanine/thymine mispair binding GO:0032137 9.26 MSH6 MSH2
7 single guanine insertion binding GO:0032142 9.16 MSH6 MSH2
8 single thymine insertion binding GO:0032143 8.96 MSH6 MSH2
9 mismatched DNA binding GO:0030983 8.8 PMS2 MSH6 MSH2

Sources for Rhabdomyosarcoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....