ERMS
MCID: EMB005
MIFTS: 53

Embryonal Rhabdomyosarcoma (ERMS)

Categories: Cancer diseases, Fetal diseases, Genetic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Embryonal Rhabdomyosarcoma

MalaCards integrated aliases for Embryonal Rhabdomyosarcoma:

Name: Embryonal Rhabdomyosarcoma 12 20 29 6 15 17
Rhabdomyosarcoma, Embryonal 73 44 39 70
Rhabdomyosarcoma Embryonal 20 54
Botryoid Rhabdomyosarcoma 20 70
Spindle Cell Rhabdomyosarcomas 20
Erms 20

Classifications:



External Ids:

Disease Ontology 12 DOID:3246
MeSH 44 D018233
NCIt 50 C8971
SNOMED-CT 67 404051002
UMLS 70 C0206656 C1306574

Summaries for Embryonal Rhabdomyosarcoma

Disease Ontology : 12 A rhabdomyosarcoma wherein the mesenchymally-derived malignant cells resemble the primitive developing skeletal muscle of the embryo; it occurs most often in the head and neck area or in the genital or urinary organs.

MalaCards based summary : Embryonal Rhabdomyosarcoma, also known as rhabdomyosarcoma, embryonal, is related to prostate embryonal rhabdomyosarcoma and orbit embryonal rhabdomyosarcoma. An important gene associated with Embryonal Rhabdomyosarcoma is PAX3 (Paired Box 3), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Endometrial cancer. The drugs Sargramostim and Lenograstim have been mentioned in the context of this disorder. Affiliated tissues include cervix, prostate and skeletal muscle, and related phenotypes are Reduced mammosphere formation and cardiovascular system

Wikipedia : 73 Sarcoma botryoides or botryoid sarcoma is a subtype of embryonal rhabdomyosarcoma, that can be observed... more...

Related Diseases for Embryonal Rhabdomyosarcoma

Diseases in the Embryonal Rhabdomyosarcoma family:

Rhabdomyosarcoma, Embryonal, 2 Rhabdomyosarcoma, Embryonal, 1

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

(show top 50) (show all 380)
# Related Disease Score Top Affiliating Genes
1 prostate embryonal rhabdomyosarcoma 32.8 MYOG MYOD1
2 orbit embryonal rhabdomyosarcoma 32.4 PAX7 PAX3 MYOG MB FOXO1
3 botryoid rhabdomyosarcoma 32.3 PAX3 MYOG MYOD1 MB DICER1 DES
4 spindle cell rhabdomyosarcoma 32.2 PAX3 MYOG MYOD1 MB DES
5 parameningeal embryonal rhabdomyosarcoma 31.9 TP53 PAX7 PAX3 MYOG MDM2 FOXO1
6 soft tissue sarcoma 31.4 TP53 MDM2
7 prostate rhabdomyosarcoma 31.4 MYOG MYOD1
8 rare tumor 31.2 EWSR1 DES
9 spindle cell sarcoma 31.0 MYOG MDM2 EWSR1 DES
10 cervical polyp 30.9 MYOG DES
11 nephroma 30.7 IGF2 DICER1 DES
12 orbit rhabdomyosarcoma 30.6 PAX7 PAX3 MYOG MYCN MB FOXO1
13 adenosarcoma 30.6 TP53 MB DES
14 mesenchymal cell neoplasm 30.5 TP53 MYOG EWSR1
15 gallbladder sarcoma 30.5 MYOG MYOD1 DES
16 ectomesenchymoma 30.5 PAX3 MYOG HRAS FOXO1 DES
17 medullomyoblastoma 30.4 MYOG MB DES
18 skeletal muscle neoplasm 30.4 MYOG MYOD1 MB
19 sarcoma 30.3 TP53 MYOG MDM2 HRAS EWSR1 DICER1
20 bladder sarcoma 30.3 MYOG MYOD1 EWSR1
21 carcinosarcoma 30.2 TP53 MB HRAS DES
22 malignant mesenchymoma 30.2 MYOG MYOD1 MDM2 MB DES
23 embryonal sarcoma 30.2 TP53 MYOG MYOD1 MDM2 DES CDK4
24 pleuropulmonary blastoma 30.1 TP53 MYCN MB IGF2 DICER1 DES
25 bilateral retinoblastoma 30.1 MYOG MYCN MB DES
26 beckwith-wiedemann syndrome 30.1 TP53 PAX7 MYOD1 IGF2
27 breast rhabdomyosarcoma 30.0 PAX7 PAX3 MYOG MYOD1 MB IGF2
28 hemangiopericytoma, malignant 30.0 MYOG MDM2 IGF2 DES
29 retinoblastoma 29.9 TP53 MYOD1 MYCN MDM2 CDK4
30 osteogenic sarcoma 29.9 TP53 MDM2 IGF2 CDK4
31 inflammatory myofibroblastic tumor 29.9 TP53 MDM2 DES CDK4
32 connective tissue benign neoplasm 29.9 TP53 PTCH1 MDM2 EWSR1 CDK4
33 leiomyosarcoma 29.8 TP53 MYOG MDM2 MB IGF2 DES
34 malignant peripheral nerve sheath tumor 29.8 TP53 MYOG MDM2 CDK4
35 pleomorphic rhabdomyosarcoma 29.8 TP53 PAX7 PAX3 MYOG MYOD1 MB
36 muscular dystrophy 29.8 PAX7 MYOD1 MB DUX4L1 DUX4 DES
37 rhabdomyosarcoma 2 29.7 PAX7 PAX3 MYOG MYOD1 MYCN MDM2
38 rhabdoid cancer 29.7 TP53 MYOG MYOD1 IGF2 EWSR1 DES
39 undifferentiated embryonal sarcoma of the liver 29.7 TP53 MYOG MYOD1 MDM2 CDK4
40 extraosseous chondrosarcoma 29.7 EWSR1 DUX4L1 DUX4
41 chondrosarcoma, extraskeletal myxoid 29.5 MYOG EWSR1 DUX4L1 DUX4
42 desmoplastic small round cell tumor 29.5 PAX3 MYOG MYOD1 EWSR1 DUX4 DES
43 malignant fibrous histiocytoma 29.4 TP53 MYOG MYOD1 MDM2 MB EWSR1
44 hepatoblastoma 29.4 YAP1 TP53 MYCN MDM2 IGF2
45 facioscapulohumeral muscular dystrophy 1 29.3 PAX7 PAX3 MYOG MYOD1 DUX4L1 DUX4
46 wilms tumor 1 29.3 TP53 MYOG MYOD1 MYCN IGF2 EWSR1
47 neuroblastoma 29.3 TP53 PTPN11 PTCH1 MYCN MDM2 IGF2
48 li-fraumeni syndrome 29.0 TP53 PTCH1 MYCN MDM2 IGF2 HRAS
49 myopathy 28.9 PAX7 MYOG MYOD1 MB HRAS DUX4L1
50 rhabdomyosarcoma 28.4 YAP1 TP53 PTPN11 PTCH1 PAX7 PAX3

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



Diseases related to Embryonal Rhabdomyosarcoma

Symptoms & Phenotypes for Embryonal Rhabdomyosarcoma

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.23 CDK4 DES DICER1 FOXO1 HRAS IGF2

MGI Mouse Phenotypes related to Embryonal Rhabdomyosarcoma:

46 (show all 24)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.51 CDK4 DES DICER1 FOXO1 HRAS IGF2
2 behavior/neurological MP:0005386 10.49 CDK4 DES DICER1 FOXO1 HRAS IGF2
3 homeostasis/metabolism MP:0005376 10.49 CDK4 DES DICER1 FOXO1 HRAS IGF2
4 cellular MP:0005384 10.48 CDK4 DES DICER1 FOXO1 IGF2 MB
5 growth/size/body region MP:0005378 10.47 CDK4 DICER1 FOXO1 HRAS IGF2 MB
6 mortality/aging MP:0010768 10.44 CDK4 DES DICER1 FOXO1 HRAS IGF2
7 embryo MP:0005380 10.43 CDK4 DICER1 FOXO1 IGF2 MB MDM2
8 muscle MP:0005369 10.42 CDK4 DES DICER1 FOXO1 HRAS IGF2
9 craniofacial MP:0005382 10.38 CDK4 DICER1 FOXO1 HRAS IGF2 MDM2
10 digestive/alimentary MP:0005381 10.37 CDK4 FOXO1 HRAS IGF2 MDM2 MYCN
11 integument MP:0010771 10.36 CDK4 DICER1 FOXO1 HRAS IGF2 MDM2
12 endocrine/exocrine gland MP:0005379 10.35 CDK4 DICER1 FOXO1 HRAS IGF2 MDM2
13 nervous system MP:0003631 10.27 CDK4 DICER1 FOXO1 HRAS IGF2 MDM2
14 neoplasm MP:0002006 10.26 CDK4 DICER1 FOXO1 HRAS MDM2 MYOD1
15 no phenotypic analysis MP:0003012 10.25 DICER1 FOXO1 HRAS IGF2 MDM2 MYCN
16 liver/biliary system MP:0005370 10.22 CDK4 DICER1 FOXO1 IGF2 MDM2 MYCN
17 normal MP:0002873 10.22 CDK4 DICER1 FOXO1 HRAS MDM2 MYCN
18 limbs/digits/tail MP:0005371 10.19 DICER1 FOXO1 IGF2 MDM2 MYCN PAX3
19 renal/urinary system MP:0005367 10.02 CDK4 DICER1 HRAS IGF2 MDM2 MYCN
20 respiratory system MP:0005388 9.97 DICER1 HRAS IGF2 MB MYCN MYOD1
21 reproductive system MP:0005389 9.96 CDK4 DICER1 FOXO1 IGF2 MDM2 MYCN
22 pigmentation MP:0001186 9.85 CDK4 MDM2 PAX3 PTCH1 PTPN11 TP53
23 skeleton MP:0005390 9.8 CDK4 DICER1 FOXO1 HRAS IGF2 MDM2
24 vision/eye MP:0005391 9.28 CDK4 DICER1 IGF2 MYCN PAX3 PAX7

Drugs & Therapeutics for Embryonal Rhabdomyosarcoma

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

(show top 50) (show all 95)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sargramostim Approved, Investigational Phase 3 123774-72-1, 83869-56-1
2
Lenograstim Approved, Investigational Phase 3 135968-09-1
3
Topotecan Approved, Investigational Phase 3 123948-87-8, 119413-54-6 60700
4
Cetuximab Approved Phase 3 205923-56-4 56842117 2333
5
Irinotecan Approved, Investigational Phase 3 100286-90-6, 97682-44-5 60838
6
Morphine Approved, Investigational Phase 3 57-27-2 5288826
7
Clotrimazole Approved, Vet_approved Phase 3 23593-75-1 2812
8
Vinorelbine Approved, Investigational Phase 3 71486-22-1 60780 44424639
9
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
10
Sirolimus Approved, Investigational Phase 3 53123-88-9 6436030 5284616
11
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
12
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
13
Dactinomycin Approved, Investigational Phase 3 50-76-0 2019 457193
14
Molgramostim Investigational Phase 3 99283-10-0
15
Camptothecin Experimental Phase 3 7689-03-4
16 Hormones Phase 3
17 Antineoplastic Agents, Immunological Phase 3
18 Calcium, Dietary Phase 3
19 topoisomerase I inhibitors Phase 3
20 Antifungal Agents Phase 3
21 Antibiotics, Antitubercular Phase 3
22 Tubulin Modulators Phase 3
23 Immunosuppressive Agents Phase 3
24 Alkylating Agents Phase 3
25 Anti-Infective Agents Phase 3
26 Immunologic Factors Phase 3
27 Antirheumatic Agents Phase 3
28 Antimitotic Agents Phase 3
29 Anti-Bacterial Agents Phase 3
30 Cactinomycin Phase 3
31
Calcium Nutraceutical Phase 3 7440-70-2 271
32
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
33
Etoposide Approved Phase 2 33419-42-0 36462
34
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
35
Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
36
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
37
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
38
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
39
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
40
Etanercept Approved, Investigational Phase 2 185243-69-0
41
Trabectedin Approved, Investigational Phase 2 114899-77-3 108150
42
Bevacizumab Approved, Investigational Phase 2 216974-75-3
43
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563
44
Tyrosine Approved, Investigational, Nutraceutical Phase 2 60-18-4 6057
45
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
46
Tirapazamine Investigational Phase 2 27314-97-2
47 Imatinib Mesylate Phase 2 220127-57-1 123596
48 Epothilones Phase 2
49 Lactams Phase 2
50 Epothilone B Phase 2

Interventional clinical trials:

(show all 44)
# Name Status NCT ID Phase Drugs
1 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
2 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
3 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
4 Erbitux MEtastatic Colorectal Cancer Strategy Study (ERMES): A Phase III Randomized Two Arm Study With FOLFIRI + Cetuximab Until Disease Progression Compared to FOLFIRI + Cetuximab for 8 Cycles Followed by Cetuximab Alone Until Disease Progression in First Line Treatment of Patients With RAS and BRAF Wild Type Metastatic Colorectal Cancer Completed NCT02484833 Phase 3 Cetuximab;FOLFIRI
5 A Randomized Phase 3 Study of Vincristine, Dactinomycin, Cyclophosphamide (VAC) Alternating With Vincristine and Irinotecan (VI) Versus VAC/VI Plus Temsirolimus (TORI, Torisel, NSC# 683864) in Patients With Intermediate Risk (IR) Rhabdomyosarcoma (RMS) Recruiting NCT02567435 Phase 3 Cyclophosphamide;Irinotecan Hydrochloride;Temsirolimus;Vincristine Sulfate;Vinorelbine
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 Active, not recruiting NCT00075582 Phase 3 dactinomycin;cyclophosphamide;vincristine sulfate
7 Phase II Study of Imatinib Mesylate in Patients With Life Threatening Malignant Rare Diseases Completed NCT00154388 Phase 2 Imatinib mesylate
8 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
9 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
10 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
11 Phase II Trial of Irinotecan in Children With Refractory Solid Tumors Completed NCT00004078 Phase 2 irinotecan hydrochloride
12 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
13 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
14 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
15 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
16 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
17 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
18 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
19 A Phase II Study of Imetelstat (GRN163L, NSC# 754228) in Children With Relapsed or Refractory Solid Tumors Withdrawn NCT02011126 Phase 2 Imetelstat Sodium
20 A Multicenter Phase I Trial of 17-N-allylamino-17-demethoxy Geldanamycin (17-AAG, NSC #330507) in Patients With Recurrent/Refractory Pediatric Solid Tumors (Ewing's Sarcoma, Desmoplastic Small Round Cell Tumor, Osteosarcoma, Neuroblastoma, and Rhabdomyosarcoma) and Leukemia Completed NCT00093821 Phase 1 tanespimycin
21 A Phase I Study of Single Agent OSI-774 (Tarceva) (NSC# 718781, IND# 63383) Followed by OSI-774 With Temozolomide for Patients With Selected Recurrent/Refractory Solid Tumors, Including Brain Tumors Completed NCT00077454 Phase 1 erlotinib hydrochloride;temozolomide
22 A Phase 1 Study of Doxorubicin and A12 in Advanced Soft Tissue Sarcoma Completed NCT00720174 Phase 1 Doxorubicin Hydrochloride
23 Reading Analysis in Ophthalmologic Patients: a Pilot Study Unknown status NCT03750149
24 A Pilot Study to Evaluate the Potential Efficacy of Lithium Carbonate for Stimulation of Intestinal Recovery In Patients With Acute Graft-versus-host Disease (GVHD) Completed NCT00408681 lithium carbonate
25 Observational - CRKL Expression at the Protein Level in Rhabdomyosarcoma Tumors by Tissue Microarray (TMA) Completed NCT01496573
26 Observational - Identifying and Validating Novel Mechanisms of Radiation Resistance in Rhabdomyosarcoma Completed NCT01626170
27 Developmental Pathway Drug-Targets in Advanced Rhabdomyosarcomas Completed NCT01668095
28 Acquisition of Human Gynecologic Specimens to be Used in Studying the Causes, Diagnosis, Prevention and Treatment of Cancer Completed NCT00897442
29 Cardiac-Sparing Whole Lung IMRT in Children and Young Adults With Lung Metastases: A Feasibility Study Completed NCT01586104
30 Tissue Microarray Studies of the 12q13-q14 Amplicon in Alveolar Rhabdomyosarcoma Completed NCT01609803
31 Prevalence and Risk Factors of Epiretinal Membrane in Diabetic and Non-diabetic Patients: a Prospective, Cross-sectional and Comparative Study Completed NCT03362580
32 Outcomes of Extensive Brilliant Blue G-Assisted Internal Limiting Membrane Peeling in Retinal Detachment With Proliferative Vitreoretinopathy Using 3D Visualization System Completed NCT04490876
33 UHR-OCT and HD-OCT for Preretinal Membranes: Is There a Difference Between ICG and Membrane Blue? A Randomized Clinical Trial Completed NCT00437593
34 Primary Vitrectomy for the Treatment of Retinal Detachment in Highly Myopic Completed NCT01480505
35 Pharmacokinetic Evaluation of Cefepime Administrered Intravenously in Intensive Care Patients Completed NCT02680600 Cefepime dosing
36 Preoperative Prognostic Factors and Predictive Score in Patients Operated on for Combined Cataract and Idiopathic Epiretinal Membrane. Completed NCT02406430
37 Surgery for Idiopathic Epimacular Membrane: Morpho-functional Outcomes Based on the Pre-operative Macular Integrity of Photoreceptoral Junction. A Prospective Pilot Study. Completed NCT04158791
38 International Pleuropulmonary Blastoma Registry for PPB, DICER1 and Associated Conditions Recruiting NCT03382158
39 Genetics of Embryonal and Alveolar Rhabdomyosarcoma Study (GEARS) Recruiting NCT03296371
40 Intraoperative Analysis of the Central Retina in Epiretinal Fibrosis Recruiting NCT04802915
41 Cultivation of Hyalocytes From ILM and ERM Samples: a Pilot Study Recruiting NCT04306718
42 Elucidating the Genetic Basis of the Pleuropulmonary Blastoma (PPB) Familial Cancer Syndrome Active, not recruiting NCT00565903
43 A COG Soft Tissue Sarcoma Diagnosis, Biology and Banking Protocol Active, not recruiting NCT00919269
44 To Compare Anatomical and Functionnal Outcomes in Patients Undergoing Epiretinal Membrane Surgery With and Without Internal Limiting Membrane Peeling Not yet recruiting NCT04802265

Search NIH Clinical Center for Embryonal Rhabdomyosarcoma

Cochrane evidence based reviews: rhabdomyosarcoma, embryonal

Genetic Tests for Embryonal Rhabdomyosarcoma

Genetic tests related to Embryonal Rhabdomyosarcoma:

# Genetic test Affiliating Genes
1 Embryonal Rhabdomyosarcoma 29

Anatomical Context for Embryonal Rhabdomyosarcoma

MalaCards organs/tissues related to Embryonal Rhabdomyosarcoma:

40
Cervix, Prostate, Skeletal Muscle, Liver, Bone, Lung, Breast

Publications for Embryonal Rhabdomyosarcoma

Articles related to Embryonal Rhabdomyosarcoma:

(show top 50) (show all 1371)
# Title Authors PMID Year
1
Recurrent t(2;2) and t(2;8) translocations in rhabdomyosarcoma without the canonical PAX-FOXO1 fuse PAX3 to members of the nuclear receptor transcriptional coactivator family. 54 61
19953635 2010
2
Fusion of EWSR1 with the DUX4 facioscapulohumeral muscular dystrophy region resulting from t(4;22)(q35;q12) in a case of embryonal rhabdomyosarcoma. 54 61
19837262 2009
3
A novel PAX3 rearrangement in embryonal rhabdomyosarcoma. 61 54
19215790 2009
4
MyoD and E-protein heterodimers switch rhabdomyosarcoma cells from an arrested myoblast phase to a differentiated state. 61 54
19299559 2009
5
Embryonal rhabdomyosarcoma of the chest wall: a case report and review of the literature. 54 61
18603708 2008
6
Polypoid angiomyofibroblastoma-like tumor of the oral cavity: a hitherto unreported soft tissue tumor mimicking embryonal rhabdomyosarcoma. 61 54
18656317 2008
7
Insulin-like growth factor-I has different effects on myogenin induction and cell cycle progression in human alveolar and embryonal rhabdomyosarcoma cells. 54 61
17549403 2007
8
Utility of ALK-1 protein expression and ALK rearrangements in distinguishing inflammatory myofibroblastic tumor from malignant spindle cell lesions of the urinary bladder. 61 54
17396140 2007
9
Effects of RNAi-mediated Smad4 silencing on growth and apoptosis of human rhabdomyosarcoma cells. 61 54
17016646 2006
10
Myogenin and desmin immunohistochemistry in the assessment of post-chemotherapy genitourinary embryonal rhabdomyosarcoma: prognostic and management implications. 54 61
16945640 2006
11
Cutaneous embryonal rhabdomyosarcoma presenting as a nodule on cheek; a case report and review of literature. 54 61
16987772 2006
12
Pharmacologic inhibition of cyclin-dependent kinase 4/6 activity arrests proliferation in myoblasts and rhabdomyosarcoma-derived cells. 54 61
16731763 2006
13
Deregulation of the hedgehog signalling pathway: a possible role for the PTCH and SUFU genes in human rhabdomyoma and rhabdomyosarcoma development. 54 61
16294371 2006
14
Myogenic markers in the evaluation of embryonal botryoid rhabdomyosarcoma of the female genital tract. 61 54
16220232 2005
15
Myogenic markers in the evaluation of embryonal botryoid rhabdomyosarcoma of the female genital tract. 54 61
16010486 2005
16
Amplification of CDK4, MDM2, SAS and GLI genes in leiomyosarcoma, alveolar and embryonal rhabdomyosarcoma. 54 61
15024701 2004
17
PAX7 expression in embryonal rhabdomyosarcoma suggests an origin in muscle satellite cells. 54 61
12865925 2003
18
Aberrant PAX3 and PAX7 expression. A link to the metastatic potential of embryonal rhabdomyosarcoma and cutaneous malignant melanoma? 54 61
12647804 2003
19
Reactivation of a silenced H19 gene in human rhabdomyosarcoma by demethylation of DNA but not by histone hyperacetylation. 61 54
12234381 2002
20
MYCN expression in human rhabdomyosarcoma cell lines and tumour samples. 54 61
11920742 2002
21
Predominant expression of alternative PAX3 and PAX7 forms in myogenic and neural tumor cell lines. 61 54
10554014 1999
22
[Pathology of Ewing sarcoma]. 61 54
8685098 1996
23
Fine needle aspiration biopsy of pediatric orbital tumors. An immunocytochemical study. 61 54
8042414 1994
24
Specific expression of insulin-like growth factor-II in rhabdomyosarcoma tumor cells. 61 54
8116575 1994
25
Tissue-specific expression of neural cell adhesion molecule (NCAM) may allow differential diagnosis of neuroblastoma from embryonal rhabdomyosarcoma. 61 54
7833118 1994
26
Round cell tumours of bone. 61 54
8183732 1993
27
Immunohistochemical detection of PAX-FOXO1 fusion proteins in alveolar rhabdomyosarcoma using breakpoint specific monoclonal antibodies. 61
33299109 2021
28
Embryonal rhabdomyosarcoma completely resected at diagnosis: The European paediatric Soft tissue sarcoma Study Group RMS2005 experience. 61
33567392 2021
29
DICER1-associated embryonal rhabdomyosarcoma and adenosarcoma of the gynecologic tract: Pathology, molecular genetics, and indications for molecular testing. 61
33135284 2021
30
Cytologic diagnosis of metastatic embryonal rhabdomyosarcoma in cerebrospinal fluid: A case report. 61
33750018 2021
31
When a stuffy nose won't go away: Rhabdomyosarcoma masquerading as adenoiditis. 61
33312319 2021
32
Epigenetic regulator BMI1 promotes alveolar rhabdomyosarcoma proliferation and constitutes a novel therapeutic target. 61
33523558 2021
33
Embryonal Rhabdomyosarcoma Presenting as Lung Metastasis in an Adult: An Uncommon Presentation. 61
33786248 2021
34
An unusual manifestation of Hand-Foot-Genital Syndrome: Embryonal Rhabdomyosarcoma - A case report. 61
33520218 2021
35
Skeletal Muscle Subpopulation Rearrangements upon Rhabdomyosarcoma Development through Single-Cell Mass Cytometry. 61
33671425 2021
36
Perianal and perineal rhabdomyosarcomas: a retrospective multicenter study of 35 cases. 61
33516222 2021
37
Response to the combination use of pazopanib with olaratumab in a patient with lung-metastatic embryonal rhabdomyosarcoma: a case report. 61
33569329 2021
38
Leptomeningeal Relapse of Embryonal Rhabdomyosarcoma after 15 years. 61
32311247 2020
39
Embryonal rhabdomyosarcoma of breast, pleura, and retroperitoneum diagnosed from pleural fluid cytology. 61
33274858 2020
40
Characteristics and prognosis of embryonal rhabdomyosarcoma in children and adolescents: An analysis of 464 cases from the SEER database. 61
33376951 2020
41
Tumoral and pseusotumoral processes of the vagina in the pediatric population: A 26-YEAR retrospective study. 61
32980262 2020
42
Somatic DICER1 Mutations in a Pubertal Girl with Cervical Embryonal Rhabdomyosarcoma and Papillary Thyroid Adenoma. 61
32682898 2020
43
The Emerging Role of Ras Pathway Signaling in Pediatric Cancer. 61
32907837 2020
44
[Rhabdomyosarcoma of the common bile duct mimicking choledochal cyst: a rare cause of obstructive jaundice]. 61
33328007 2020
45
Triton tumor of the orbit. 61
31746248 2020
46
Complete Regression of Rhabdomyosarcoma in an Adult Secondary to Postoperative Wound Infection Following Limb Salvage Surgery: A Case Report. 61
33635775 2020
47
Rhabdomyosarcoma in a child with nephrotic syndrome treated with cyclosporine: a case report with literature review. 61
33203378 2020
48
Laparoscopic management of Rhabdomyosarcoma of common Bile duct, Case report. 61
33005400 2020
49
Uterine cervix rhabdomyosarcoma: an uncommon entity in an adult patient. 61
33257391 2020
50
EHMT2 epigenetically suppresses Wnt signaling and is a potential target in embryonal rhabdomyosarcoma. 61
33252038 2020

Variations for Embryonal Rhabdomyosarcoma

ClinVar genetic disease variations for Embryonal Rhabdomyosarcoma:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PTPN11 NM_002834.4(PTPN11):c.1508G>T (p.Gly503Val) SNV other 40560 rs397507546 GRCh37: 12:112926888-112926888
GRCh38: 12:112489084-112489084
2 STK11 NM_000455.5(STK11):c.1180G>A (p.Gly394Ser) SNV Uncertain significance 184046 rs768780695 GRCh37: 19:1226524-1226524
GRCh38: 19:1226525-1226525

Copy number variations for Embryonal Rhabdomyosarcoma from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 95623 15 78300000 102531392 Amplification Embryonal rhabdomyosarcoma
2 106824 17 1 24000000 Deletion Embryonal rhabdomyosarcoma
3 149787 2 93300000 243199373 Copy number Embryonal rhabdomyosarcoma
4 194807 5 144500000 180915260 Deletion Embryonal rhabdomyosarcoma
5 230851 8 1 45600000 Amplification Embryonal rhabdomyosarcoma

Expression for Embryonal Rhabdomyosarcoma

Search GEO for disease gene expression data for Embryonal Rhabdomyosarcoma.

Pathways for Embryonal Rhabdomyosarcoma

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

(show all 29)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.9 TP53 MDM2 IGF2 HRAS FOXO1 CDK4
2
Show member pathways
12.73 TP53 PTPN11 MDM2 HRAS FOXO1 CDK4
3
Show member pathways
12.65 TP53 PTPN11 MDM2 HRAS FOXO1
4
Show member pathways
12.6 TP53 MDM2 HRAS FOXO1 CDK4
5 12.59 TP53 PTCH1 MDM2 IGF2 HRAS FOXO1
6
Show member pathways
12.53 TP53 PTPN11 MDM2 HRAS FOXO1
7
Show member pathways
12.47 YAP1 TP53 PTPN11 HRAS FOXO1
8
Show member pathways
12.24 TP53 PTCH1 MDM2 HRAS
9
Show member pathways
12.24 TP53 PTPN11 MDM2 IGF2 HRAS
10 12.23 TP53 MDM2 HRAS CDK4
11
Show member pathways
12.07 YAP1 TP53 MDM2 HRAS FOXO1 CDK4
12 12.05 TP53 MDM2 FOXO1 CDK4
13 11.96 TP53 MDM2 HRAS FOXO1 CDK4
14 11.94 TP53 PTPN11 PTCH1 MDM2 IGF2 HRAS
15 11.88 TP53 MDM2 HRAS FOXO1
16 11.78 YAP1 MDM2 FOXO1
17 11.76 TP53 MDM2 CDK4
18 11.7 MYOD1 FOXO1 CDK4
19 11.63 PAX7 PAX3 MYOG MYOD1 DES
20 11.62 TP53 MYCN HRAS
21 11.6 TP53 MDM2 HRAS CDK4
22 11.53 PAX3 MYOD1 MDM2
23 11.5 TP53 MDM2 FOXO1
24 11.48 TP53 MDM2 IGF2 HRAS FOXO1 CDK4
25 11.45 TP53 PAX7 PAX3 MYCN MDM2 FOXO1
26 11.41 TP53 MDM2 CDK4
27 11.37 TP53 MDM2 CDK4
28 11.29 TP53 MYOD1 FOXO1
29 11.16 TP53 MDM2 CDK4

GO Terms for Embryonal Rhabdomyosarcoma

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

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.86 TP53 PAX7 PAX3 MYOG MYOD1 MYCN
2 nucleoplasm GO:0005654 9.77 YAP1 TP53 PTPN11 PAX3 MYOG MYOD1
3 transcription factor complex GO:0005667 9.55 YAP1 TP53 MYOG MYOD1 CDK4
4 nucleus GO:0005634 9.55 YAP1 TP53 PTPN11 PTCH1 PAX7 PAX3

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.09 TP53 PAX7 PAX3 MYOG MYOD1 MYCN
2 negative regulation of transcription by RNA polymerase II GO:0000122 10.02 YAP1 TP53 PTCH1 MDM2 IGF2 FOXO1
3 positive regulation of cell proliferation GO:0008284 10.01 YAP1 MDM2 IGF2 HRAS CDK4
4 apoptotic process GO:0006915 9.99 TP53 PAX3 MDM2 HRAS FOXO1 DUX4
5 positive regulation of gene expression GO:0010628 9.97 YAP1 TP53 MYCN MDM2 HRAS
6 regulation of transcription, DNA-templated GO:0006355 9.97 TP53 PAX7 PAX3 MYOG MYOD1 MYCN
7 negative regulation of cell proliferation GO:0008285 9.96 TP53 PTCH1 MYOG HRAS DUX4
8 regulation of cell proliferation GO:0042127 9.85 YAP1 TP53 PTCH1 CDK4
9 animal organ morphogenesis GO:0009887 9.8 PTCH1 PAX3 IGF2 HRAS
10 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.78 TP53 PTPN11 IGF2
11 positive regulation of transcription, DNA-templated GO:0045893 9.76 YAP1 TP53 PTCH1 PAX3 MYOG MYOD1
12 negative regulation of gene expression GO:0010629 9.73 YAP1 TP53 MYCN MDM2 HRAS DICER1
13 muscle organ development GO:0007517 9.67 PAX7 PAX3 MYOG MYOD1
14 cardiac septum morphogenesis GO:0060411 9.62 TP53 MDM2
15 myotube differentiation GO:0014902 9.6 MYOG MYOD1
16 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:1903800 9.59 TP53 MYCN
17 positive regulation of organ growth GO:0046622 9.58 YAP1 IGF2
18 positive regulation of muscle cell differentiation GO:0051149 9.58 MYOG MYOD1 MDM2
19 positive regulation of skeletal muscle fiber development GO:0048743 9.57 MYOG MYOD1
20 cellular response to UV-C GO:0071494 9.54 TP53 MDM2
21 muscle cell fate commitment GO:0042693 9.52 MYOG MYOD1
22 cellular response to actinomycin D GO:0072717 9.46 TP53 MDM2
23 positive regulation of transcription by RNA polymerase II GO:0045944 9.36 YAP1 TP53 PAX3 MYOG MYOD1 MYCN
24 cellular response to gamma radiation GO:0071480 9.26 YAP1 TP53 MDM2 HRAS

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.02 TP53 PAX7 PAX3 MYOG MYOD1 MYCN
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.86 TP53 PAX7 PAX3 MYOG MYOD1 MYCN
3 sequence-specific double-stranded DNA binding GO:1990837 9.8 PAX7 PAX3 MYOG MYOD1 MYCN DUX4
4 DNA-binding transcription factor activity GO:0003700 9.7 TP53 PAX7 PAX3 MYOG MYOD1 MYCN
5 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.61 YAP1 TP53 PAX7 PAX3 MYOG MYOD1
6 proximal promoter sequence-specific DNA binding GO:0000987 9.58 TP53 MYOG MYOD1
7 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.17 TP53 MYOG MYOD1 MYCN MDM2 FOXO1

Sources for Embryonal 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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....