MCID: RHB003
MIFTS: 65

Rhabdomyosarcoma

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

MalaCards integrated aliases for Rhabdomyosarcoma:

Name: Rhabdomyosarcoma 11 58 75 28 53 5 43 14 16 71

Characteristics:


Inheritance:

Multigenic/multifactorial 58

Prevelance:

1-9/1000000 (Europe) 58

Age Of Onset:

Childhood 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 11 DOID:3247
MeSH 43 D012208
NCIt 49 C3359
SNOMED-CT 68 302847003
MESH via Orphanet 44 D012208
ICD10 via Orphanet 32 C49.9
UMLS via Orphanet 72 C0035412
Orphanet 58 ORPHA780
UMLS 71 C0035412

Summaries for Rhabdomyosarcoma

Orphanet: 58 A malignant soft tissue tumor which develops from cells of striated muscle. It is the most common form of tumor found in children and adolescents.

MalaCards based summary: Rhabdomyosarcoma is related to embryonal rhabdomyosarcoma and rhabdomyosarcoma 2. An important gene associated with Rhabdomyosarcoma is TP53 (Tumor Protein P53), and among its related pathways/superpathways are Disease and Prolactin Signaling. The drugs Sargramostim and Idarubicin have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, lymph node and t cells, and related phenotypes are homeostasis/metabolism and neoplasm

Disease Ontology: 11 A skeletal muscle cancer that arise from skeletal muscle progenitors.

Wikipedia: 75 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 1127)
# Related Disease Score Top Affiliating Genes
1 embryonal rhabdomyosarcoma 33.7 TP53 NF1 HRAS DICER1 ALK
2 rhabdomyosarcoma 2 33.6 TP53 RMST NF1 ALK
3 pleomorphic rhabdomyosarcoma 33.0 TP53 NF1 HRAS
4 mismatch repair cancer syndrome 1 32.7 PTEN PMS2 MSH6 MSH2
5 li-fraumeni syndrome 32.3 TP53 PTEN PMS2 NF1 MSH6 MSH2
6 large cell carcinoma with rhabdoid phenotype 32.2 TP53 HRAS
7 costello syndrome 31.9 NF1 LRRC56 HRAS
8 neurofibromatosis 31.7 TP53 PTEN PMS2 NF1 MSH6 MSH2
9 mesenchymal cell neoplasm 31.6 TP53 NF1 ALK
10 carcinosarcoma 31.5 TP53 PTEN HRAS
11 cowden syndrome 1 31.5 TP53 PTEN PMS2 NF1 MSH6 MSH2
12 ewing sarcoma 31.4 TP53 NF1 BRCA1 ALK
13 neuroblastoma 31.4 TP53 PTEN NF1 MIR29C HRAS DICER1
14 blastoma 31.3 TP53 HRAS DICER1
15 liposarcoma 31.3 TP53 PTEN NF1 MSH2
16 adenoma 31.3 TP53 PMS2 MSH6 MSH2 HRAS
17 connective tissue benign neoplasm 31.3 TP53 NF1 ALK
18 lymphangioma 31.2 TP53 PMS2 MSH6 MSH2 HRAS
19 wilms tumor 1 31.2 TP53 PTEN NF1 HRAS DICER1 BRCA2
20 muscle cancer 31.2 TP53 RMST PTEN NF1 HRAS ALK
21 leiomyosarcoma 31.2 TP53 NF1 BRCA1
22 dicer1 syndrome 31.1 TP53 NF1 DICER1
23 neurofibromatosis, type i 31.1 TP53 SDHA PTEN PMS2 NF1 MSH6
24 skeletal muscle cancer 31.1 TP53 RMST NF1 HRAS DICER1 ALK
25 adenocarcinoma 31.0 TP53 PTEN MSH6 MSH2 HRAS BRCA2
26 medulloblastoma 31.0 TP53 PTEN NF1 MSH6 MSH2 HRAS
27 small cell carcinoma 31.0 TP53 PTEN ALK
28 brain cancer 31.0 TP53 PTEN PMS2 NF1 MSH6 MSH2
29 endometrial adenocarcinoma 31.0 TP53 PTEN PMS2 MSH6 MSH2
30 colorectal adenocarcinoma 30.9 TP53 PTEN PMS2 MSH6 MSH2 HRAS
31 hematologic cancer 30.9 MSH2 MIR29C HRAS CBL ALK
32 uterine carcinosarcoma 30.9 TP53 PTEN PMS2 MSH6 MSH2 LRRC56
33 lynch syndrome 1 30.8 PMS2 MSH6 MSH2
34 mixed cell type cancer 30.8 TP53 PTEN HRAS BRCA1
35 aplastic anemia 30.8 TP53 MSH6 MSH2 BRCA2 BRCA1
36 colonic benign neoplasm 30.8 TP53 PTEN PMS2 MSH6 MSH2 HRAS
37 basal cell nevus syndrome 30.8 TP53 PTEN NF1 HRAS BRCA2 BRCA1
38 bladder cancer 30.8 TP53 PTEN MSH2 MIR29C LRRC56 HRAS
39 rectal benign neoplasm 30.8 TP53 PMS2 MSH6 MSH2 HRAS
40 desmoid tumor 30.8 TP53 PMS2 MSH6 MSH2 ALK
41 bap1 tumor predisposition syndrome 30.8 TP53 SDHA PTEN PMS2 NF1 MSH6
42 rectum adenocarcinoma 30.8 TP53 PMS2 MSH6 MSH2 HRAS
43 dedifferentiated liposarcoma 30.8 TP53 NF1 ALK
44 ovarian cancer 30.7 TP53 PTEN PMS2 MSH6 MSH2 MIR29C
45 noonan syndrome 1 30.7 TP53 PTEN NF1 LRRC56 HRAS CBL
46 gastrointestinal stromal tumor 30.7 TP53 SDHA PTEN NF1 HRAS ALK
47 neurofibroma 30.7 TP53 PTEN NF1
48 skin benign neoplasm 30.7 TP53 NF1 MSH6 MSH2 HRAS
49 lynch syndrome 30.7 TP53 PTEN PMS2 NF1 MSH6 MSH2
50 rectum cancer 30.7 TP53 MSH6 MSH2 HRAS

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 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.28 ALK BRCA1 BRCA2 CBL DICER1 HRAS
2 neoplasm MP:0002006 10.24 ALK BRCA1 BRCA2 DICER1 HRAS MSH2
3 endocrine/exocrine gland MP:0005379 10.1 ALK BRCA1 BRCA2 CBL DICER1 HRAS
4 muscle MP:0005369 10.08 BRCA1 CBL DICER1 HRAS MIR206 NF1
5 limbs/digits/tail MP:0005371 10 BRCA1 BRCA2 CBL DICER1 NF1 PTEN
6 pigmentation MP:0001186 9.99 ALK BRCA1 CBL NF1 PTEN TP53
7 digestive/alimentary MP:0005381 9.97 BRCA1 BRCA2 HRAS MSH2 NF1 PMS2
8 respiratory system MP:0005388 9.97 ALK BRCA1 CBL DICER1 HRAS LRRC56
9 reproductive system MP:0005389 9.96 ALK BRCA1 BRCA2 CBL DICER1 LRRC56
10 skeleton MP:0005390 9.9 ALK BRCA1 BRCA2 CBL DICER1 HRAS
11 mortality/aging MP:0010768 9.83 ALK BRCA1 BRCA2 CBL DICER1 HRAS
12 integument MP:0010771 9.4 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 211)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sargramostim Approved, Investigational Phase 3 123774-72-1
2
Idarubicin Approved Phase 3 58957-92-9 42890
3
Morphine Approved, Investigational Phase 3 57-27-2 5288826
4
Mechlorethamine Approved, Investigational Phase 2, Phase 3 51-75-2 4033
5
Daunorubicin Approved Phase 2, Phase 3 20830-81-3 30323
6
Vinorelbine Approved, Investigational Phase 3 71486-22-1 44424639 60780
7
Dactinomycin Approved, Investigational Phase 3 50-76-0 2019 457193
8
Sirolimus Approved, Investigational Phase 3 53123-88-9 5284616 6436030
9
Irinotecan Approved, Investigational Phase 3 97682-44-5, 100286-90-6 60838
10
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
11
Clotrimazole Approved, Vet_approved Phase 3 23593-75-1 2812
12
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
13
Etoposide Approved Phase 3 33419-42-0 36462
14
Ifosfamide Approved Phase 3 3778-73-2 3690
15
Carboplatin Approved Phase 3 41575-94-4 10339178 38904
16
Epirubicin Approved Phase 3 56420-45-2 41867
17
Molgramostim Investigational Phase 3 99283-10-0
18
Trofosfamide Investigational Phase 3 22089-22-1 65702
19
Camptothecin Experimental Phase 3 7689-03-4 24360
20
Palifosfamide Investigational Phase 3 31645-39-3 100427
21 Calcium, Dietary Phase 3
22 Cactinomycin Phase 3
23 topoisomerase I inhibitors Phase 3
24 Antifungal Agents Phase 3
25
Etoposide phosphate Phase 3 16760419
26
Calcium Nutraceutical Phase 3 7440-70-2 271
27
Fludarabine Approved Phase 1, Phase 2 75607-67-9, 21679-14-1 30751 657237
28
Cisplatin Approved Phase 2 15663-27-1 2767 5702198 441203
29
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
30
Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
31
Prednisolone Approved, Vet_approved Phase 2 50-24-8 4894 5755
32
Etanercept Approved, Investigational Phase 2 185243-69-0
33
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5 1875
34
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 4159 6741
35
Trabectedin Approved, Investigational Phase 2 114899-77-3 108150
36
Adenosine Approved, Investigational Phase 2 58-61-7 60961
37
Trastuzumab Approved, Investigational Phase 2 180288-69-1
38
Cobalt Approved, Experimental, Withdrawn Phase 2 7440-48-4 104729
39
Afatinib Approved Phase 1, Phase 2 439081-18-2, 850140-72-6 53445376 10184653
40
Levoleucovorin Approved, Experimental, Investigational Phase 2 68538-85-2, 58-05-9, 73951-54-9 149436 6006
41
Pemetrexed Approved, Investigational Phase 2 150399-23-8, 137281-23-3 60843 446556 135565230
42
Oxaliplatin Approved, Investigational Phase 2 61825-94-3 43805 11947679 6857599
43
Romidepsin Approved, Investigational Phase 2 128517-07-7 5352062
44
Indinavir Approved Phase 2 150378-17-9 5362440
45
Topotecan Approved, Investigational Phase 2 123948-87-8, 119413-54-6 60699 60700
46
Picropodophyllin Approved, Investigational Phase 2 518-28-5, 477-47-4 10607 72435
47
Melphalan Approved Phase 2 148-82-3 4053 460612
48
Ivosidenib Approved, Investigational Phase 2 1448347-49-6 78140854 71657455
49
Talazoparib Approved, Investigational Phase 1, Phase 2 1207456-01-6 135565082
50
Thiotepa Approved, Investigational Phase 2 52-24-4 5453

Interventional clinical trials:

(show top 50) (show all 207)
# 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 An Open Label, Single Centre, Single Arm, Prospective Feasibility Study Evaluating the Effectiveness of Near-infrared Fluorescence (NIRF) Using Indo-cyanine Green (ICG) in Minimally Invasive Paediatric Oncology Surgery (MIS) Recruiting NCT04854018 Phase 4 Indocyanine green
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 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
6 Vincristine, Dactinomycin, and Lower Doses of Cyclophosphamide With or Without Radiation Therapy for Patients With Newly Diagnosed Low-Risk Embryonal/Botryoid/Spindle Cell Rhabdomyosarcoma Completed NCT00075582 Phase 3 dactinomycin;cyclophosphamide;vincristine sulfate
7 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 Completed NCT00876031 Phase 3 trofosfamide, idarubicin, etoposide
8 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
9 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
10 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
11 Risk-Based Treatment for Non-Rhabdomyosarcoma Soft Tissue Sarcomas (NRSTS) in Patients Under 30 Years of Age Completed NCT00346164 Phase 3 doxorubicin hydrochloride;ifosfamide
12 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
13 A Randomized Phase 3 Trial of Vinorelbine, Dactinomycin, and Cyclophosphamide (VINO-AC) Plus Maintenance Chemotherapy With Vinorelbine and Oral Cyclophosphamide (VINO-CPO) vs Vincristine, Dactinomycin and Cyclophosphamide (VAC) Plus VINO-CPO Maintenance in Patients With High Risk Rhabdomyosarcoma (HR-RMS) Recruiting NCT04994132 Phase 3 Cyclophosphamide;Vincristine Sulfate;Vinorelbine Tartrate
14 A Prospective Phase 3 Study of Patients With Newly Diagnosed Very Low-Risk and Low-Risk Fusion Negative Rhabdomyosarcoma Recruiting NCT05304585 Phase 3 Cyclophosphamide;Vincristine
15 Randomized Study of Vincristine, Dactinomycin and Cyclophosphamide (VAC) Versus VAC Alternating With Vincristine and Irinotecan (VI) for Patients With Intermediate-Risk Rhabdomyosarcoma (RMS) Active, not recruiting NCT00354835 Phase 3 Irinotecan Hydrochloride;Cyclophosphamide;Vincristine Sulfate
16 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
17 A Randomized Phase 3 Study of Vincristine, Dactinomycin, Cyclophosphamide (VAC) Alternating With Vincristine and Irinotecan (VI) Versus VAC/VI Plus Temsirolimus (TORI, Torisel, NSC# 683864) in Patients With Intermediate Risk (IR) Rhabdomyosarcoma (RMS) Suspended NCT02567435 Phase 3 Cyclophosphamide;Irinotecan Hydrochloride;Temsirolimus;Vincristine Sulfate;Vinorelbine
18 Rhabdomyosarcoma and Malignant Soft Tissue Tumours of Childhood Terminated NCT00162695 Phase 3 Ifosfamide, oncovin, actinomycine D, epirubicine, carboplatinum, etoposide
19 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
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 Phase II Trial of Short VAC1.2 Therapy for Low-Risk A Group Patients With Rhabdomyosarcoma Unknown status NCT00245141 Phase 2 cyclophosphamide;vincristine sulfate
22 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
23 Pilot Study of Expanded , Activated Haploidentical Natural Killer Cell Infusions for Sarcomas Unknown status NCT02409576 Phase 1, Phase 2
24 Hypofractionated 5x5 Gy Radiotherapy With Sequential Doxorubicin and Ifosfamide-based Chemotherapy in Marginally Resectable Soft Tissue Sarcomas of Extremities or Trunk Wall Unknown status NCT03651375 Phase 2 Sequential chemotherapy - 3 courses of AI
25 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
26 Phase II Study of Vinorelbine + Cyclofosfamide Association Among Patients Reached of Refractory Tumours or in Relapse Unknown status NCT00180947 Phase 2 Vinorelbine, cyclofosfamide
27 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
28 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
29 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
30 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
31 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
32 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
33 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]
34 A Phase 2, Multicenter, Open-label Study to Assess Safety and Preliminary Activity of Eribulin Mesylate in Pediatric Subjects With Relapsed/Refractory Rhabdomyosarcoma (RMS), Non-rhabdomyosarcoma Soft Tissue Sarcoma (NRSTS) and Ewing Sarcoma (EWS) Completed NCT03441360 Phase 2 Eribulin mesylate
35 A Pilot Study of Tumor Vaccination and R-hIL-7 Following Standard Multimodality Therapy in Patients With High Risk Pediatric Solid Tumors Completed NCT00923351 Phase 1, Phase 2 Tumor Purged/CD25 Depleted Lymphocytes;rhIL-7
36 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
37 A Phase 1/2 Single-arm Study Evaluating the Safety and Efficacy of Eribulin Mesilate in Combination With Irinotecan in Children With Refractory or Recurrent Solid Tumors Completed NCT03245450 Phase 1, Phase 2 Eribulin mesilate;Irinotecan hydrochloride
38 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
39 Phase II Trial of Irinotecan in Children With Refractory Solid Tumors Completed NCT00004078 Phase 2 irinotecan hydrochloride
40 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
41 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
42 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
43 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
44 A Phase 2 Study of IMGN901 (Lorvotuzumab Mertansine; NSC#: 783609) in Children With Relapsed or Refractory Wilms Tumor, Rhabdomyosarcoma, Neuroblastoma, Pleuropulmonary Blastoma, Malignant Peripheral Nerve Sheath Tumor (MPNST) and Synovial Sarcoma Completed NCT02452554 Phase 2
45 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
46 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
47 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
48 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
49 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)
50 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

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 28

Anatomical Context for Rhabdomyosarcoma

Organs/tissues related to Rhabdomyosarcoma:

MalaCards : Skeletal Muscle, Lymph Node, T Cells, Lung, Bone, Bone Marrow, Myeloid

Publications for Rhabdomyosarcoma

Articles related to Rhabdomyosarcoma:

(show top 50) (show all 11893)
# Title Authors PMID Year
1
Targeting wild-type and mutationally activated FGFR4 in rhabdomyosarcoma with the inhibitor ponatinib (AP24534). 62 5
24124571 2013
2
Anaplastic lymphoma kinase aberrations in rhabdomyosarcoma: clinical and prognostic implications. 62 5
22184391 2012
3
Identification of FGFR4-activating mutations in human rhabdomyosarcomas that promote metastasis in xenotransplanted models. 62 5
19809159 2009
4
MicroRNA-1/206 targets c-Met and inhibits rhabdomyosarcoma development. 53 62 46
19710019 2009
5
The muscle-specific microRNA miR-206 blocks human rhabdomyosarcoma growth in xenotransplanted mice by promoting myogenic differentiation. 62 46
19620785 2009
6
NF-kappaB-YY1-miR-29 regulatory circuitry in skeletal myogenesis and rhabdomyosarcoma. 62 46
18977326 2008
7
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. 53 62
19953635 2010
8
Increased expression of the hedgehog signaling pathway in pediatric solid malignancies. 53 62
20152358 2010
9
Adult-type rhabdomyosarcoma: analysis of 57 cases with clinicopathologic description, identification of 3 morphologic patterns and prognosis. 53 62
19898221 2009
10
Desensitisation of native and recombinant human urotensin-II receptors. 53 62
19680632 2009
11
SNP genotyping of a sclerosing rhabdomyosarcoma: reveals highly aneuploid profile and a specific MDM2/HMGA2 amplification. 53 62
19454362 2009
12
Prognostic significance of phosphorylated FOXO1 expression in soft tissue sarcoma. 53 62
19408047 2009
13
Coexistence of a clear cell adenocarcinoma and an adenosarcoma with a heterologous rhabdomyosarcoma in an endometriotic cyst of the ovary: a case study. 53 62
19483627 2009
14
Ligand-dependent platelet-derived growth factor receptor (PDGFR)-alpha activation sensitizes rare lung cancer and sarcoma cells to PDGFR kinase inhibitors. 53 62
19366796 2009
15
Opposing control of rhabdomyosarcoma growth and differentiation by myogenin and interleukin 4. 53 62
19372547 2009
16
MyoD and E-protein heterodimers switch rhabdomyosarcoma cells from an arrested myoblast phase to a differentiated state. 53 62
19299559 2009
17
Expression of insulin-like growth factor pathway proteins in rhabdomyosarcoma: IGF-2 expression is associated with translocation-negative tumors. 53 62
18788888 2009
18
The actin-cytoskeleton linker protein ezrin is regulated during osteosarcoma metastasis by PKC. 53 62
19060919 2009
19
WT1 (Wilms tumor 1) peptide immunotherapy for childhood rhabdomyosarcoma: a case report. 53 62
19206012 2009
20
Characteristic overexpression of the forkhead box transcription factor Foxf1 in Patched-associated tumors. 53 62
19020777 2008
21
Pax genes in embryogenesis and oncogenesis. 53 62
18627422 2008
22
Role of class I human leukocyte antigen molecules in early steps of echovirus infection of rhabdomyosarcoma cells. 53 62
18823925 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. 53 62
18708938 2008
24
Alterations of RB1 gene in embryonal and alveolar rhabdomyosarcoma: special reference to utility of pRB immunoreactivity in differential diagnosis of rhabdomyosarcoma subtype. 53 62
18386058 2008
25
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. 53 62
18829562 2008
26
Rhabdomyosarcoma subtyping by immunohistochemical assessment of myogenin: tissue array study and review of the literature. 53 62
18493875 2008
27
Effects of 4E-BP1 expression on hypoxic cell cycle inhibition and tumor cell proliferation and survival. 53 62
18708753 2008
28
A retrovirus-based system to stably silence GDF-8 expression and enhance myogenic differentiation in human rhabdomyosarcoma cells. 53 62
18563849 2008
29
Clinical significance of CXC chemokine receptor-4 and c-Met in childhood rhabdomyosarcoma. 53 62
18593989 2008
30
A comparative immunohistochemical analysis of small round cell tumors of childhood: utility of peripherin and alpha-internexin as markers for neuroblastomas. 53 62
18528283 2008
31
Cisplatin treatment increases survival and expansion of a highly tumorigenic side-population fraction by upregulating VEGF/Flt1 autocrine signaling. 53 62
18332870 2008
32
Nestin expression in different tumours and its relevance to malignant grade. 53 62
17873113 2008
33
Detection of FOXO1 (FKHR) gene break-apart by fluorescence in situ hybridization in formalin-fixed, paraffin-embedded alveolar rhabdomyosarcomas and its clinicopathologic correlation. 53 62
18303411 2008
34
A functional nuclear localization signal in insulin-like growth factor binding protein-6 mediates its nuclear import. 53 62
18039785 2008
35
MDM2 displays differential activities dependent upon the activation status of NFkappaB. 53 62
17938575 2008
36
Genetic modeling of Ras-induced human rhabdomyosarcoma. 53 62
18413264 2008
37
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. 53 62
17696196 2007
38
Phosphorylation profiles of protein kinases in alveolar and embryonal rhabdomyosarcoma. 53 62
17585318 2007
39
Increased fat oxidation and regulation of metabolic genes with ultraendurance exercise. 53 62
17488246 2007
40
PAX3 and PAX3-FKHR promote rhabdomyosarcoma cell survival through downregulation of PTEN. 53 62
17350164 2007
41
Evaluation of no-wash calcium assay kits: enabling tools for calcium mobilization. 53 62
17537987 2007
42
Promotion of cancer cell migration: an insulin-like growth factor (IGF)-independent action of IGF-binding protein-6. 53 62
17519236 2007
43
[Adult prostate sarcoma: a report of 6 cases with clinical analysis]. 53 62
17725305 2007
44
Friend leukaemia integration-1 expression in malignant and benign tumours: a multiple tumour tissue microarray analysis using polyclonal antibody. 53 62
16917000 2007
45
Patched haploinsufficient mouse rhabdomyosarcoma overexpress secreted phosphoprotein 1 and matrix metalloproteinases. 53 62
17467979 2007
46
Smad4 and ERK2 stimulated by transforming growth factor beta1 in rhabdomyosarcoma. 53 62
17439748 2007
47
Imatinib mesylate potentiates topotecan antitumor activity in rhabdomyosarcoma preclinical models. 53 62
17131346 2007
48
Primary osseous rhabdomyosarcoma with focal matrix formation mimicking osteosarcoma. 53 62
17905523 2007
49
Expression of connective tissue growth factor (CTGF/CCN2) in a mouse model of rhabdomyosarcomagenesis. 53 62
18158569 2007
50
Effects of RNAi-mediated Smad4 silencing on growth and apoptosis of human rhabdomyosarcoma cells. 53 62
17016646 2006

Variations for Rhabdomyosarcoma

ClinVar genetic disease variations for Rhabdomyosarcoma:

5 (show all 50)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NF1 NM_001042492.3(NF1):c.4985G>A (p.Trp1662Ter) SNV Pathogenic
573015 rs1567611375 GRCh37: 17:29652987-29652987
GRCh38: 17:31325969-31325969
2 CBL NM_005188.4(CBL):c.1259G>A (p.Arg420Gln) SNV Pathogenic
13810 rs267606708 GRCh37: 11:119149251-119149251
GRCh38: 11:119278541-119278541
3 NF1 NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter) SNV Pathogenic
237556 rs199474742 GRCh37: 17:29562746-29562746
GRCh38: 17:31235728-31235728
4 NF1 NM_001042492.3(NF1):c.5609G>A (p.Arg1870Gln) SNV Pathogenic
185354 rs786202112 GRCh37: 17:29654857-29654857
GRCh38: 17:31327839-31327839
5 HRAS, LRRC56 NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) SNV Pathogenic
12603 rs104894230 GRCh37: 11:534288-534288
GRCh38: 11:534288-534288
6 ALK NM_004304.5(ALK):c.3673G>A (p.Asp1225Asn) SNV Pathogenic
375886 rs1057519696 GRCh37: 2:29436920-29436920
GRCh38: 2:29214054-29214054
7 TP53 NM_000546.6(TP53):c.892G>T (p.Glu298Ter) SNV Pathogenic
93323 rs201744589 GRCh37: 17:7577046-7577046
GRCh38: 17:7673728-7673728
8 TP53 NM_000546.6(TP53):c.818G>A (p.Arg273His) SNV Pathogenic
12366 rs28934576 GRCh37: 17:7577120-7577120
GRCh38: 17:7673802-7673802
9 TP53 NM_000546.6(TP53):c.794T>C (p.Leu265Pro) SNV Pathogenic
245777 rs879253942 GRCh37: 17:7577144-7577144
GRCh38: 17:7673826-7673826
10 TP53 NM_000546.6(TP53):c.743G>A (p.Arg248Gln) SNV Pathogenic
12356 rs11540652 GRCh37: 17:7577538-7577538
GRCh38: 17:7674220-7674220
11 TP53 NM_000546.6(TP53):c.730G>A (p.Gly244Ser) SNV Pathogenic
376600 rs1057519989 GRCh37: 17:7577551-7577551
GRCh38: 17:7674233-7674233
12 TP53 NM_000546.6(TP53):c.473G>A (p.Arg158His) SNV Pathogenic
141963 rs587782144 GRCh37: 17:7578457-7578457
GRCh38: 17:7675139-7675139
13 TP53 NM_000546.6(TP53):c.451C>T (p.Pro151Ser) SNV Pathogenic
12370 rs28934874 GRCh37: 17:7578479-7578479
GRCh38: 17:7675161-7675161
14 TP53 NM_000546.6(TP53):c.451C>A (p.Pro151Thr) SNV Pathogenic
12369 rs28934874 GRCh37: 17:7578479-7578479
GRCh38: 17:7675161-7675161
15 TP53 NM_000546.6(TP53):c.375G>A (p.Thr125=) SNV Pathogenic
177825 rs55863639 GRCh37: 17:7579312-7579312
GRCh38: 17:7675994-7675994
16 TP53 NM_000546.6(TP53):c.365_366del (p.Val122fs) MICROSAT Pathogenic
127809 rs587780067 GRCh37: 17:7579321-7579322
GRCh38: 17:7676003-7676004
17 NF1 NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys) SNV Pathogenic
354 rs137854557 GRCh37: 17:29541542-29541542
GRCh38: 17:31214524-31214524
18 NF1 NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter) SNV Pathogenic
188280 rs768638173 GRCh37: 17:29553492-29553492
GRCh38: 17:31226474-31226474
19 NF1 NM_001042492.3(NF1):c.5305C>T (p.Arg1769Ter) SNV Pathogenic
228381 rs876657714 GRCh37: 17:29654553-29654553
GRCh38: 17:31327535-31327535
20 NF1 NM_001042492.3(NF1):c.6704+1G>T SNV Pathogenic
547680 rs1060500376 GRCh37: 17:29664899-29664899
GRCh38: 17:31337881-31337881
21 NF1 NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1]) MICROSAT Pathogenic
220715 rs864622639 GRCh37: 17:29670116-29670121
GRCh38: 17:31343098-31343103
22 HRAS, LRRC56 NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) SNV Pathogenic
12602 rs104894229 GRCh37: 11:534289-534289
GRCh38: 11:534289-534289
23 DICER1 NM_177438.3(DICER1):c.2026C>T (p.Arg676Ter) SNV Pathogenic
242054 rs878855246 GRCh37: 14:95579443-95579443
GRCh38: 14:95113106-95113106
24 DICER1 NM_177438.3(DICER1):c.1174C>T (p.Arg392Ter) SNV Pathogenic
429141 rs1131691211 GRCh37: 14:95590735-95590735
GRCh38: 14:95124398-95124398
25 MSH2 NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter) SNV Pathogenic
90554 rs63749849 GRCh37: 2:47656951-47656951
GRCh38: 2:47429812-47429812
26 MSH6 NM_000179.3(MSH6):c.2300C>T (p.Thr767Ile) SNV Pathogenic
141058 rs587781462 GRCh37: 2:48027422-48027422
GRCh38: 2:47800283-47800283
27 PMS2 NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter) SNV Pathogenic
9237 rs63751466 GRCh37: 7:6017260-6017260
GRCh38: 7:5977629-5977629
28 BRCA2 NM_000059.4(BRCA2):c.462_463del (p.Arg155_Asp156insTer) DEL Pathogenic
51684 rs80359459 GRCh37: 13:32900273-32900274
GRCh38: 13:32326136-32326137
29 BRCA2 NM_000059.4(BRCA2):c.3103G>T (p.Glu1035Ter) SNV Pathogenic
51400 rs80358556 GRCh37: 13:32911595-32911595
GRCh38: 13:32337458-32337458
30 BRCA2 NM_000059.4(BRCA2):c.3599_3600del (p.Asp1199_Cys1200insTer) DEL Pathogenic
51493 rs80359391 GRCh37: 13:32912090-32912091
GRCh38: 13:32337953-32337954
31 BRCA2 NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) DEL Pathogenic
37859 rs80359405 GRCh37: 13:32912338-32912339
GRCh38: 13:32338201-32338202
32 BRCA2 NM_000059.4(BRCA2):c.7133C>G (p.Ser2378Ter) SNV Pathogenic
38085 rs276174889 GRCh37: 13:32929123-32929123
GRCh38: 13:32354986-32354986
33 BRCA2 NM_000059.4(BRCA2):c.7857G>A (p.Trp2619Ter) SNV Pathogenic
38122 rs80359011 GRCh37: 13:32936711-32936711
GRCh38: 13:32362574-32362574
34 SDHA NM_004168.4(SDHA):c.2T>G (p.Met1Arg) SNV Pathogenic
422382 rs750380279 GRCh37: 5:218472-218472
GRCh38: 5:218357-218357
35 SDHA NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) SNV Pathogenic
142601 rs142441643 GRCh37: 5:223624-223624
GRCh38: 5:223509-223509
36 BRCA1 NM_007294.4(BRCA1):c.5177_5180del (p.Arg1726fs) MICROSAT Pathogenic
37644 rs80357867 GRCh37: 17:41215363-41215366
GRCh38: 17:43063346-43063349
37 PTEN NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) SNV Pathogenic
7819 rs121909224 GRCh37: 10:89692904-89692904
GRCh38: 10:87933147-87933147
38 BRCA1 NM_007294.4(BRCA1):c.844_850dup (p.Gln284fs) DUP Pathogenic
55735 rs80357989 GRCh37: 17:41246697-41246698
GRCh38: 17:43094680-43094681
39 SDHC NM_003001.5(SDHC):c.386G>A (p.Trp129Ter) SNV Likely Pathogenic
978229 rs1672294906 GRCh37: 1:161326611-161326611
GRCh38: 1:161356821-161356821
40 PTCH1 NM_001083603.3(PTCH1):c.93C>G (p.Tyr31Ter) SNV Likely Pathogenic
978808 rs756069384 GRCh37: 9:98279010-98279010
GRCh38: 9:95516728-95516728
41 TP53 NM_000546.6(TP53):c.560-1G>C SNV Likely Pathogenic
492748 rs1202793339 GRCh37: 17:7578290-7578290
GRCh38: 17:7674972-7674972
42 NF1 NM_001042492.3(NF1):c.3520C>T (p.Gln1174Ter) SNV Likely Pathogenic
978806 rs868450405 GRCh37: 17:29560043-29560043
GRCh38: 17:31233025-31233025
43 FGFR4 NM_213647.3(FGFR4):c.1605C>G (p.Asn535Lys) SNV Likely Pathogenic
376150 rs1057519792 GRCh37: 5:176522416-176522416
GRCh38: 5:177095415-177095415
44 FGFR4 NM_213647.3(FGFR4):c.1649T>A (p.Val550Glu) SNV Likely Pathogenic
376151 rs1057519793 GRCh37: 5:176522552-176522552
GRCh38: 5:177095551-177095551
45 FGFR4 NM_213647.3(FGFR4):c.1605C>A (p.Asn535Lys) SNV Likely Pathogenic
376149 rs1057519792 GRCh37: 5:176522416-176522416
GRCh38: 5:177095415-177095415
46 CBL NM_005188.4(CBL):c.1495C>T (p.Arg499Ter) SNV Likely Pathogenic
978807 rs778927765 GRCh37: 11:119155742-119155742
GRCh38: 11:119285032-119285032
47 ALK NM_004304.5(ALK):c.4298_4299del (p.Glu1433fs) DEL Likely Pathogenic
978809 rs1668950344 GRCh37: 2:29416654-29416655
GRCh38: 2:29193788-29193789
48 TP53 NM_000546.6(TP53):c.704A>G (p.Asn235Ser) SNV Uncertain Significance
127821 rs144340710 GRCh37: 17:7577577-7577577
GRCh38: 17:7674259-7674259
49 BRCA2 NM_000059.4(BRCA2):c.9874C>T (p.Pro3292Ser) SNV Uncertain Significance
234197 rs876660917 GRCh37: 13:32972524-32972524
GRCh38: 13:32398387-32398387
50 PIK3CA NM_006218.4(PIK3CA):c.1375_1386del (p.Ile459_Thr462del) DEL Not Provided
1327587 GRCh37: 3:178928095-178928106
GRCh38: 3:179210307-179210318

Cosmic variations for Rhabdomyosarcoma:

8 (show top 50) (show all 619)
# 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,NS c.743G>A p.R248Q 17:7674220-7674220 4
2 COSM106065628 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.394A>G p.K132E 17:7675218-7675218 4
3 COSM112255322 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.637C>T p.R213* 17:7674894-7674894 4
4 COSM122271658 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.337G>T p.G113C 17:7674230-7674230 4
5 COSM145017865 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.616G>A p.G206S 17:7674230-7674230 4
6 COSM142605762 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.754A>C p.K252Q 17:7673749-7673749 4
7 COSM144013587 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.700G>A p.G234S 17:7674230-7674230 4
8 COSM144650760 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.701G>A p.R234H 17:7673802-7673802 4
9 COSM122271355 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.305A>G p.Y102C 17:7674262-7674262 4
10 COSM143576669 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.551C>G p.P184R 17:7674863-7674863 4
11 COSM106096066 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.871A>C p.K291Q 17:7673749-7673749 4
12 COSM145017326 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.407G>A p.R136H 17:7675088-7675088 4
13 COSM144544530 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.494A>G p.E165G 17:7674920-7674920 4
14 COSM144025238 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.361A>G p.K121E 17:7675218-7675218 4
15 COSM144020071 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.695T>C p.M232T 17:7674235-7674235 4
16 COSM112297123 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.871A>C p.K291Q 17:7673749-7673749 4
17 COSM93183307 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.524G>A p.R175H 17:7675088-7675088 4
18 COSM144015364 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.604C>T p.R202* 17:7674894-7674894 4
19 COSM143371076 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.616G>A p.G206S 17:7674230-7674230 4
20 COSM142845635 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.961A>T p.K321* 17:7673567-7673567 4
21 COSM87906219 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.728T>C p.M243T 17:7674235-7674235 4
22 COSM105633282 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.394A>G p.K132E 17:7675218-7675218 4
23 COSM93229090 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.871A>C p.K291Q 17:7673749-7673749 4
24 COSM145024780 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.611T>C p.M204T 17:7674235-7674235 4
25 COSM121884328 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.332T>C p.M111T 17:7674235-7674235 4
26 COSM121878773 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.241C>T p.R81* 17:7674894-7674894 4
27 COSM105622516 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.637C>T p.R213* 17:7674894-7674894 4
28 COSM143386796 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.134A>G p.E45G 17:7674920-7674920 4
29 COSM93183281 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.818G>A p.R273H 17:7673802-7673802 4
30 COSM112446896 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.739A>G p.N247D 17:7674224-7674224 4
31 COSM122105750 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.272C>G p.P91R 17:7674863-7674863 4
32 COSM142838784 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.637C>T p.R213* 17:7674894-7674894 4
33 COSM143984574 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.394A>C p.K132Q 17:7673749-7673749 4
34 COSM143946062 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.160C>T p.R54* 17:7674894-7674894 4
35 COSM143943565 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.47G>A p.R16H 17:7675088-7675088 4
36 COSM144320480 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.277A>G p.K93E 17:7675218-7675218 4
37 COSM144651337 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.616G>A p.G206S 17:7674230-7674230 4
38 COSM145221104 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.551C>G p.P184R 17:7674863-7674863 4
39 COSM144120969 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.394A>C p.K132Q 17:7673749-7673749 4
40 COSM122781709 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.475A>C p.K159Q 17:7673749-7673749 4
41 COSM112253106 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.818G>A p.R273H 17:7673802-7673802 4
42 COSM111802670 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.871A>C p.K291Q 17:7673749-7673749 4
43 COSM88149182 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.668C>G p.P223R 17:7674863-7674863 4
44 COSM142570943 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.844A>T p.K282* 17:7673567-7673567 4
45 COSM105620276 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.743G>A p.R248Q 17:7674220-7674220 4
46 COSM142837352 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.743G>A p.R248Q 17:7674220-7674220 4
47 COSM106059837 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.728T>C p.M243T 17:7674235-7674235 4
48 COSM87949760 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.871A>C p.K291Q 17:7673749-7673749 4
49 COSM143413354 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.754A>C p.K252Q 17:7673749-7673749 4
50 COSM144182541 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.706A>G p.N236D 17:7674224-7674224 4

Copy number variations for Rhabdomyosarcoma from CNVD:

6 (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 directly related to Rhabdomyosarcoma:

# Pathway Source
1 Defective SLC22A18 causes lung cancer (LNCR) and embryonal rhabdomyosarcoma 1 (RMSE1) Reactome 66

Pathways related to Rhabdomyosarcoma according to GeneCards Suite gene sharing:

(show all 25)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.58 TP53 PTEN PMS2 NF1 MSH6 MSH2
2
Show member pathways
13.35 TP53 PTEN NF1 MSH6 HRAS CBL
3
Show member pathways
13.08 TP53 PMS2 MSH6 MSH2 BRCA2 BRCA1
4
Show member pathways
12.76 TP53 MSH6 MSH2 HRAS BRCA2 BRCA1
5
Show member pathways
12.63 PMS2 MSH6 MSH2 BRCA2 BRCA1
6
Show member pathways
12.49 PMS2 MSH6 MSH2 BRCA2 BRCA1
7
Show member pathways
12.48 TP53 MSH6 MSH2 BRCA2 BRCA1
8 12.35 TP53 MSH6 MSH2 BRCA2 BRCA1
9
Show member pathways
12.3 PMS2 MSH6 MSH2 BRCA1
10
Show member pathways
12.26 TP53 PTEN HRAS BRCA2 BRCA1
11
Show member pathways
12.01 TP53 PTEN HRAS CBL
12 11.9 MSH2 PMS2 PTEN TP53
13
Show member pathways
11.9 TP53 PTEN NF1 MSH6 MSH2 HRAS
14 11.82 TP53 PTEN HRAS
15 11.8 TP53 PTEN HRAS
16
Show member pathways
11.78 TP53 BRCA2 BRCA1
17 11.71 TP53 MSH6 MIR29B2
18 11.68 TP53 PTEN NF1 MSH6 MSH2 BRCA2
19 11.62 TP53 PTEN HRAS
20 11.58 TP53 MSH2 BRCA2 BRCA1
21
Show member pathways
11.57 TP53 MSH6 MSH2 BRCA2 BRCA1
22
Show member pathways
11.52 HRAS NF1 PTEN
23 11.42 BRCA1 HRAS PTEN TP53
24 11.13 TP53 PTEN MSH6 MSH2 BRCA1
25 11.1 PMS2 MSH6 MSH2

GO Terms for Rhabdomyosarcoma

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

# Name GO ID Score Top Affiliating Genes
1 mismatch repair complex GO:0032300 9.33 PMS2 MSH2
2 nuclear ubiquitin ligase complex GO:0000152 9.26 BRCA2 BRCA1
3 MutSalpha complex GO:0032301 8.92 MSH6 MSH2

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 regulation of cell cycle GO:0051726 10.15 BRCA1 HRAS MSH2 PTEN TP53
2 negative regulation of gene expression GO:0010629 10.12 TP53 MIR29C MIR206 HRAS DICER1
3 cellular response to ionizing radiation GO:0071479 10.01 TP53 BRCA2 BRCA1
4 fibroblast proliferation GO:0048144 9.99 TP53 NF1 HRAS
5 stem cell proliferation GO:0072089 9.98 TP53 NF1 BRCA2
6 intrinsic apoptotic signaling pathway GO:0097193 9.95 TP53 MSH6 HRAS
7 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 9.93 BRCA2 MSH2 TP53
8 double-strand break repair GO:0006302 9.92 BRCA1 BRCA2 MSH2 TP53
9 mismatch repair GO:0006298 9.91 PMS2 MSH6 MSH2
10 negative regulation of Schwann cell proliferation GO:0010626 9.89 NF1 DICER1
11 response to gamma radiation GO:0010332 9.88 TP53 CBL BRCA2
12 positive regulation of helicase activity GO:0051096 9.87 MSH6 MSH2
13 determination of adult lifespan GO:0008340 9.85 TP53 MSH6 MSH2
14 somatic recombination of immunoglobulin gene segments GO:0016447 9.8 MSH6 MSH2
15 chordate embryonic development GO:0043009 9.73 BRCA2 BRCA1
16 response to X-ray GO:0010165 9.73 TP53 MSH2 BRCA2
17 maintenance of DNA repeat elements GO:0043570 9.7 MSH6 MSH2
18 somatic hypermutation of immunoglobulin genes GO:0016446 9.63 PMS2 MSH6 MSH2
19 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.43 MSH6 MSH2 BRCA2 BRCA1
20 cellular response to DNA damage stimulus GO:0006974 9.32 TP53 PMS2 MSH6 MSH2 CBL BRCA2

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

# Name GO ID Score Top Affiliating Genes
1 MutLalpha complex binding GO:0032405 9.71 MSH6 MSH2
2 oxidized purine DNA binding GO:0032357 9.67 MSH6 MSH2
3 guanine/thymine mispair binding GO:0032137 9.62 MSH6 MSH2
4 single guanine insertion binding GO:0032142 9.56 MSH6 MSH2
5 single thymine insertion binding GO:0032143 9.46 MSH6 MSH2
6 ATP-dependent DNA damage sensor activity GO:0140664 9.43 PMS2 MSH6 MSH2
7 mismatched DNA binding GO:0030983 9.02 PMS2 MSH6 MSH2

Sources for Rhabdomyosarcoma

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