Embryonal Rhabdomyosarcoma (ERMS)

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

Aliases & Classifications for Embryonal Rhabdomyosarcoma

MalaCards integrated aliases for Embryonal Rhabdomyosarcoma:

Name: Embryonal Rhabdomyosarcoma 12 52 29 6 15 17
Rhabdomyosarcoma, Embryonal 74 43 39 71
Rhabdomyosarcoma Embryonal 52 54
Botryoid Rhabdomyosarcoma 52 71
Spindle Cell Rhabdomyosarcomas 52
Erms 52


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Disease Ontology 12 DOID:3246
MeSH 43 D018233
NCIt 49 C8971
SNOMED-CT 67 14269005
UMLS 71 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 Endometrial cancer and Pathways in cancer. The drugs Doxorubicin and Sargramostim have been mentioned in the context of this disorder. Affiliated tissues include prostate, skeletal muscle and cervix, and related phenotypes are Decreased viability in esophageal squamous lineage and Reduced mammosphere formation

Wikipedia : 74 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 407)
# Related Disease Score Top Affiliating Genes
1 prostate embryonal rhabdomyosarcoma 34.2 PAX3 MYOG MYOD1 MB FOXO1
2 orbit embryonal rhabdomyosarcoma 34.2 PAX7 PAX3 MYOG MB FOXO1
3 parameningeal embryonal rhabdomyosarcoma 33.8 TP53 PAX7 PAX3 MYOG FOXO1 CDK4
4 botryoid rhabdomyosarcoma 33.4 PAX3 MYOG MYOD1 MB DICER1 DES
5 spindle cell rhabdomyosarcoma 32.7 PAX7 PAX3 MYOG MYOD1 MB DES
6 orbit rhabdomyosarcoma 31.5 PAX3 MYOG MB
7 soft tissue sarcoma 31.5 TP53 FOXO1 EWSR1
8 rare tumor 31.2 EWSR1 DES
9 cervical polyp 30.9 MYOG DES
10 gallbladder sarcoma 30.8 MYOG MYOD1 DES
11 neurofibromatosis, type iv, of riccardi 30.7 TP53 PTPN11 HRAS
12 ectomesenchymoma 30.6 MYOG HRAS FOXO1 DES
13 mesenchymal cell neoplasm 30.6 TP53 MYOG EWSR1
14 adult fibrosarcoma 30.6 MYOG MYOD1
15 adenosarcoma 30.5 TP53 MB DES
16 congenital fibrosarcoma 30.5 MYOG EWSR1 DES
17 medullomyoblastoma 30.5 MYOG MB DES
18 mesenchymoma 30.5 MYOG MYOD1 MB DES
19 malignant mesenchymoma 30.5 MYOG MYOD1 MB DES
20 malignant fibroxanthoma 30.5 MYOG MYOD1 DES CDK4
21 skeletal muscle neoplasm 30.5 MYOG MYOD1 MB
22 malignant triton tumor 30.4 MYOG MYOD1 MB DES
23 embryonal sarcoma 30.4 TP53 MYOG MYOD1 DES CDK4
24 rhabdoid cancer 30.4 TP53 MYOG EWSR1
25 familial retinoblastoma 30.4 TP53 MYCN CDK4
26 carcinosarcoma 30.3 TP53 MB HRAS DES
27 undifferentiated embryonal sarcoma of the liver 30.3 MYOG MYOD1 CDK4
28 connective tissue benign neoplasm 30.3 TP53 PTCH1 CDK4
29 bilateral retinoblastoma 30.2 MYOG MYCN MB DES
30 rhabdoid tumor predisposition syndrome 1 30.2 TP53 MYOD1 IGF2 DES
31 pleuropulmonary blastoma 30.1 TP53 MYCN MB IGF2 DICER1 DES
32 breast rhabdomyosarcoma 30.1 PAX3 MYOG MYOD1 MB IGF2 FOXO1
33 glioma 30.1 TP53 GLI1 FOXO1 CDK4
34 uterine carcinosarcoma 30.1 TP53 MB HRAS DES
35 leiomyosarcoma 30.0 TP53 MYOG MB IGF2 DES CDK4
36 inflammatory myofibroblastic tumor 30.0 TP53 DES CDK4
37 sarcoma 29.9 TP53 MYOG MYOD1 HRAS FOXO1 EWSR1
38 chondrosarcoma, extraskeletal myxoid 29.8 EWSR1 DUX4L1 DUX4
39 histiocytoma 29.8 TP53 MYOG MYOD1 MB EWSR1 CDK4
40 pleomorphic rhabdomyosarcoma 29.6 TP53 PAX7 PAX3 MYOG MYOD1 MB
41 sarcoma, synovial 29.5 PAX3 MYOG MYCN IGF2 FOXO1 EWSR1
42 muscular dystrophy 29.4 TP53 PAX7 MYOD1 MB DUX4L1 DUX4
43 wilms tumor 1 29.4 TP53 MYOG MYCN IGF2 HRAS EWSR1
44 facioscapulohumeral muscular dystrophy 1 29.3 PAX7 PAX3 MYOG MYOD1 DUX4L1 DUX4
45 li-fraumeni syndrome 29.2 TP53 PTCH1 MYCN IGF2 HRAS CDK4
46 rhabdomyosarcoma 2 29.1 TP53 PAX7 PAX3 MYOG MYOD1 MYCN
47 neuroblastoma 29.0 TP53 PTPN11 PTCH1 MYCN IGF2 HRAS
48 rhabdomyosarcoma 28.4 TP53 PTPN11 PTCH1 PAX7 PAX3 MYOG
49 ewing sarcoma 28.2 TP53 PAX7 PAX3 MYOG MYCN IGF2
50 medulloblastoma 27.2 YAP1 TP53 PTPN11 PTCH1 PAX3 MYOG

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:

# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability in esophageal squamous lineage GR00235-A 9.85 DES GLI1 HRAS MB MYCN MYOD1
2 Reduced mammosphere formation GR00396-S 9.5 CDK4 DES DICER1 FOXO1 HRAS IGF2
3 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 9.02 CDK4 GLI1 MYCN PTPN11 YAP1

MGI Mouse Phenotypes related to Embryonal Rhabdomyosarcoma:

45 (show all 25)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.5 CDK4 DES DICER1 FOXO1 GLI1 HRAS
2 cellular MP:0005384 10.49 CDK4 DES DICER1 FOXO1 GLI1 IGF2
3 growth/size/body region MP:0005378 10.48 CDK4 DICER1 FOXO1 GLI1 HRAS IGF2
4 cardiovascular system MP:0005385 10.46 CDK4 DES DICER1 FOXO1 HRAS IGF2
5 homeostasis/metabolism MP:0005376 10.46 CDK4 DES DICER1 FOXO1 HRAS IGF2
6 embryo MP:0005380 10.44 CDK4 DICER1 FOXO1 GLI1 IGF2 MB
7 mortality/aging MP:0010768 10.44 CDK4 DES DICER1 FOXO1 GLI1 HRAS
8 craniofacial MP:0005382 10.38 CDK4 DICER1 FOXO1 GLI1 HRAS IGF2
9 digestive/alimentary MP:0005381 10.38 CDK4 FOXO1 GLI1 HRAS IGF2 MYCN
10 muscle MP:0005369 10.37 CDK4 DES DICER1 FOXO1 IGF2 MB
11 endocrine/exocrine gland MP:0005379 10.36 CDK4 DICER1 FOXO1 GLI1 HRAS IGF2
12 integument MP:0010771 10.33 CDK4 DICER1 FOXO1 HRAS IGF2 MYOG
13 hematopoietic system MP:0005397 10.31 CDK4 DICER1 FOXO1 IGF2 MB MYCN
14 nervous system MP:0003631 10.27 CDK4 DICER1 FOXO1 GLI1 HRAS IGF2
15 neoplasm MP:0002006 10.26 CDK4 DICER1 FOXO1 GLI1 HRAS MYOD1
16 no phenotypic analysis MP:0003012 10.25 DICER1 FOXO1 GLI1 HRAS IGF2 MYCN
17 normal MP:0002873 10.22 CDK4 DICER1 FOXO1 GLI1 HRAS MYCN
18 limbs/digits/tail MP:0005371 10.19 DICER1 FOXO1 GLI1 IGF2 MYCN PAX3
19 liver/biliary system MP:0005370 10.18 CDK4 DICER1 FOXO1 IGF2 MYCN PAX3
20 renal/urinary system MP:0005367 10.02 CDK4 DICER1 GLI1 HRAS IGF2 MYCN
21 respiratory system MP:0005388 10 DICER1 GLI1 HRAS IGF2 MB MYCN
22 reproductive system MP:0005389 9.96 CDK4 DICER1 FOXO1 GLI1 IGF2 MYCN
23 pigmentation MP:0001186 9.77 CDK4 PAX3 PTCH1 PTPN11 TP53
24 skeleton MP:0005390 9.77 CDK4 DICER1 FOXO1 HRAS IGF2 MYCN
25 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 106)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
Sargramostim Approved, Investigational Phase 3 123774-72-1, 83869-56-1
Lenograstim Approved, Investigational Phase 3 135968-09-1
Ifosfamide Approved Phase 3 3778-73-2 3690
Epirubicin Approved Phase 3 56420-45-2 41867
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
Etoposide Approved Phase 3 33419-42-0 36462
Topotecan Approved, Investigational Phase 3 119413-54-6, 123948-87-8 60700
Sirolimus Approved, Investigational Phase 3 53123-88-9 5284616 6436030 46835353
Everolimus Approved Phase 3 159351-69-6 6442177 70789204
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
Vinorelbine Approved, Investigational Phase 3 71486-22-1 60780 44424639
Morphine Approved, Investigational Phase 3 57-27-2 5288826
Irinotecan Approved, Investigational Phase 3 97682-44-5, 100286-90-6 60838
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
Dactinomycin Approved, Investigational Phase 3 50-76-0 2019 457193
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
Histamine Approved, Investigational Phase 3 51-45-6 774
Cyproheptadine Approved Phase 3 129-03-3 2913
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
Emodepside Investigational, Vet_approved Phase 3 155030-63-0
Camptothecin Experimental Phase 3 7689-03-4
Liposomal doxorubicin Phase 3 31703
24 Hormones Phase 3
Isophosphamide mustard Phase 3 0
26 Calcium, Dietary Phase 3
27 Etoposide phosphate Phase 3
28 Adjuvants, Immunologic Phase 3
29 Antifungal Agents Phase 3
30 topoisomerase I inhibitors Phase 3
31 Topoisomerase Inhibitors Phase 3
32 Alkylating Agents Phase 3
33 Anti-Infective Agents Phase 3
34 Antibiotics, Antitubercular Phase 3
35 Anti-Bacterial Agents Phase 3
36 Immunosuppressive Agents Phase 3
37 Antirheumatic Agents Phase 3
38 Immunologic Factors Phase 3
39 Antimitotic Agents Phase 3
40 Gastrointestinal Agents Phase 3
41 Neurotransmitter Agents Phase 3
42 Dermatologic Agents Phase 3
43 Antipruritics Phase 3
44 Histamine H1 Antagonists Phase 3
45 Serotonin Agents Phase 3
46 Histamine Antagonists Phase 3
Histamine Phosphate Phase 3 51-74-1 65513
48 Serotonin Antagonists Phase 3
49 Anti-Allergic Agents Phase 3
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202

Interventional clinical trials:

(show top 50) (show all 51)
# Name Status NCT ID Phase Drugs
1 A Protocol For Nonmetastatic Rhabdomyosarcoma [RMS-2005] Unknown status NCT00379457 Phase 3 carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;ifosfamide;topotecan hydrochloride;vincristine sulfate;vinorelbine tartrate
2 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
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 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
5 Randomized Study of Vincristine, Dactinomycin and Cyclophosphamide (VAC) Versus VAC Alternating With Vincristine and Irinotecan (VI) for Patients With Intermediate-Risk Rhabdomyosarcoma (RMS) Completed NCT00354835 Phase 3 Irinotecan Hydrochloride;Cyclophosphamide;Vincristine Sulfate
6 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
7 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
8 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
9 Prevention of Cancer/Treatment-Related Weight Loss in Children at High Nutritional Risk Terminated NCT01132547 Phase 3 cyproheptadine hydrochloride
10 Phase II Trial of VAC2.2/VA Therapy for Low-Risk B Group Patients With Rhabdomyosarcoma Unknown status NCT00245089 Phase 2 cyclophosphamide;vincristine sulfate
11 Phase II Trial of Short VAC1.2 Therapy for Low-Risk A Group Patients With Rhabdomyosarcoma Unknown status NCT00245141 Phase 2 cyclophosphamide;vincristine sulfate
12 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
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 Trabectedin (ET-743, Yondelis®) in Children With Recurrent Rhabdomyosarcoma, Ewing Sarcoma, or Nonrhabdomyosarcomatous Soft Tissue Sarcomas Completed NCT00070109 Phase 2 trabectedin
15 Phase II Trial of Irinotecan in Children With Refractory Solid Tumors Completed NCT00004078 Phase 2 irinotecan hydrochloride
16 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
17 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
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 Cixutumumab (IMC-A12) in Combination With Temsirolimus in Pediatric Patients With Recurrent or Refractory Solid Tumors Completed NCT01614795 Phase 2 Temsirolimus
20 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
21 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
22 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
23 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
24 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
25 Phase II Study of Imatinib Mesylate in Patients With Life Threatening Malignant Rare Diseases Completed NCT00154388 Phase 2 Imatinib mesylate
26 A Phase I/II Trial of the Insulin-Like Growth Factor 1 Receptor (IGF-1R) Antibody AMG479 (Ganitumab) in Combination With the Src Family Kinase (SFK) Inhibitor Dasatinib in Patients With Embryonal and Alveolar Rhabdomyosarcoma Recruiting NCT03041701 Phase 1, Phase 2 Dasatinib;Ganitumab
27 A Pilot Phase II Trial Of Irinotecan Plus Carboplatin, And Irinotecan Maintenance Therapy (High-Risk Patients Only), Integrated Into The Upfront Therapy Of Newly Diagnosed Patients With Intermediate - And High-Risk Rhabdomyosarcoma Active, not recruiting NCT00077285 Phase 2 carboplatin;cyclophosphamide;dexrazoxane hydrochloride;doxorubicin hydrochloride;etoposide;ifosfamide;irinotecan hydrochloride;vincristine sulfate
28 A Phase II Study of Imetelstat (GRN163L, NSC# 754228) in Children With Relapsed or Refractory Solid Tumors Withdrawn NCT02011126 Phase 2 Imetelstat Sodium
29 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
30 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
31 A Phase 1 Study of Doxorubicin and A12 in Advanced Soft Tissue Sarcoma Completed NCT00720174 Phase 1 Doxorubicin Hydrochloride
32 Gene Expression and Their Correlations in Patients With Idiopathic and Secondary Epiretinal Membranes in Proliferative Diabetic Retinopathy Unknown status NCT01946451
33 Observational - Identifying and Validating Novel Mechanisms of Radiation Resistance in Rhabdomyosarcoma Completed NCT01626170
34 Developmental Pathway Drug-Targets in Advanced Rhabdomyosarcomas Completed NCT01668095
35 DNA Methylation-based Assays for Detecting Disease Spread in Rhabdomyosarcoma Completed NCT01419509
36 Observational - CRKL Expression at the Protein Level in Rhabdomyosarcoma Tumors by Tissue Microarray (TMA) Completed NCT01496573
37 A Retrospective Study on the Diagnostic Value of Serum miR-206 in Rhabdomyosarcoma Completed NCT01433237
38 Evaluating Candidate Protein Expression in Human Rhabdomyosarcoma (RMS) Completed NCT01426945
39 A Study to Assess and Quantify Surface Insulin-like Growth Factor I Receptor (IGF-IR) in Rhabdomyosarcoma (RMS) Tumor Tissue Completed NCT01365962
40 Tissue Microarray Studies of the 12q13-q14 Amplicon in Alveolar Rhabdomyosarcoma Completed NCT01609803
41 Study Recurrency Testing of Mutations Identified in WGS of Pediatric Rhabdomyosarcoma Completed NCT01585376
42 Acquisition of Human Gynecologic Specimens to be Used in Studying the Causes, Diagnosis, Prevention and Treatment of Cancer Completed NCT00897442
43 Cardiac-Sparing Whole Lung IMRT in Children and Young Adults With Lung Metastases: A Feasibility Study Completed NCT01586104
44 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
45 Establishing Continuous Cell Lines and Xenografts From Pediatric Cancers for Biological and Pre-Clinical Therapeutic Studies Completed NCT00898755
46 Integrative Epigenomic Approach to Gene Discovery in Rhabdomyosarcoma (RMS) Completed NCT01466283
47 Genetics of Embryonal and Alveolar Rhabdomyosarcoma Study (GEARS) Recruiting NCT03296371
48 International Pleuropulmonary Blastoma Registry for PPB, DICER1 and Associated Conditions Recruiting NCT03382158
49 DICER1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome: A Natural History Study Recruiting NCT01247597
50 Elucidating the Genetic Basis of the Pleuropulmonary Blastoma (PPB) Familial Cancer Syndrome Active, not recruiting NCT00565903

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:

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

Publications for Embryonal Rhabdomyosarcoma

Articles related to Embryonal Rhabdomyosarcoma:

(show top 50) (show all 1322)
# Title Authors PMID Year
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
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
MyoD and E-protein heterodimers switch rhabdomyosarcoma cells from an arrested myoblast phase to a differentiated state. 54 61
19299559 2009
A novel PAX3 rearrangement in embryonal rhabdomyosarcoma. 54 61
19215790 2009
Embryonal rhabdomyosarcoma of the chest wall: a case report and review of the literature. 54 61
18603708 2008
Polypoid angiomyofibroblastoma-like tumor of the oral cavity: a hitherto unreported soft tissue tumor mimicking embryonal rhabdomyosarcoma. 54 61
18656317 2008
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
Utility of ALK-1 protein expression and ALK rearrangements in distinguishing inflammatory myofibroblastic tumor from malignant spindle cell lesions of the urinary bladder. 54 61
17396140 2007
Effects of RNAi-mediated Smad4 silencing on growth and apoptosis of human rhabdomyosarcoma cells. 54 61
17016646 2006
Myogenin and desmin immunohistochemistry in the assessment of post-chemotherapy genitourinary embryonal rhabdomyosarcoma: prognostic and management implications. 54 61
16945640 2006
Cutaneous embryonal rhabdomyosarcoma presenting as a nodule on cheek; a case report and review of literature. 54 61
16987772 2006
Pharmacologic inhibition of cyclin-dependent kinase 4/6 activity arrests proliferation in myoblasts and rhabdomyosarcoma-derived cells. 54 61
16731763 2006
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
Myogenic markers in the evaluation of embryonal botryoid rhabdomyosarcoma of the female genital tract. 54 61
16220232 2005
Myogenic markers in the evaluation of embryonal botryoid rhabdomyosarcoma of the female genital tract. 54 61
16010486 2005
Amplification of CDK4, MDM2, SAS and GLI genes in leiomyosarcoma, alveolar and embryonal rhabdomyosarcoma. 54 61
15024701 2004
PAX7 expression in embryonal rhabdomyosarcoma suggests an origin in muscle satellite cells. 54 61
12865925 2003
Aberrant PAX3 and PAX7 expression. A link to the metastatic potential of embryonal rhabdomyosarcoma and cutaneous malignant melanoma? 54 61
12647804 2003
Reactivation of a silenced H19 gene in human rhabdomyosarcoma by demethylation of DNA but not by histone hyperacetylation. 54 61
12234381 2002
MYCN expression in human rhabdomyosarcoma cell lines and tumour samples. 54 61
11920742 2002
Predominant expression of alternative PAX3 and PAX7 forms in myogenic and neural tumor cell lines. 54 61
10554014 1999
[Pathology of Ewing sarcoma]. 54 61
8685098 1996
Fine needle aspiration biopsy of pediatric orbital tumors. An immunocytochemical study. 54 61
8042414 1994
Specific expression of insulin-like growth factor-II in rhabdomyosarcoma tumor cells. 54 61
8116575 1994
Tissue-specific expression of neural cell adhesion molecule (NCAM) may allow differential diagnosis of neuroblastoma from embryonal rhabdomyosarcoma. 54 61
7833118 1994
Round cell tumours of bone. 54 61
8183732 1993
Rhabdomyosarcoma of the Adult Prostate: A Case Report With Complete Molecular Profile. 61
31409181 2020
Intravoxel incoherent motion diffusion-weighted imaging assessment of microvascular characteristics in the murine embryonal rhabdomyosarcoma model. 61
31226880 2020
Chemoradiotherapy-induced Cytodifferentiation in Bladder/Prostate Rhabdomyosarcoma With Genetic Downregulation of Myogenin and MyoD1 Gene Expression: A Case Study and Review of the Literature. 61
31945380 2020
Dose-Effect Analysis of Early Changes in Orbital Bone Morphology After Radiation Therapy for Rhabdomyosarcoma. 61
31629089 2020
Primary renal embryonal rhabdomyosarcoma in an adult patient. 61
31969398 2020
Expanding the spectrum of dicer1-associated sarcomas. 61
31537896 2020
Gynecologic and reproductive health in patients with pathogenic germline variants in DICER1. 61
31952842 2020
Embryonal Rhabdomyosarcoma of the Ovary and Fallopian Tube: Rare Neoplasms Associated With Germline and Somatic DICER1 Mutations. 61
31990691 2020
Berberine and palmatine inhibit the growth of human rhabdomyosarcoma cells. 61
31462179 2020
Soft Tissue Special Issue: Skeletal Muscle Tumors: A Clinicopathological Review. 61
31950473 2020
The current landscape of rhabdomyosarcomas: an update. 61
31696361 2020
NRAS associated RASopathy and embryonal rhabdomyosarcoma. 61
31697451 2020
Significantly greater prevalence of DICER1 alterations in uterine embryonal rhabdomyosarcoma compared to adenosarcoma. 61
31900434 2020
Presacral malignant teratoid neoplasm in association with pathogenic DICER1 variation. 61
31296931 2019
Phase II study of vincristine, actinomycin-D, cyclophosphamide and irinotecan for patients with newly diagnosed low-risk subset B rhabdomyosarcoma: A study protocol. 61
31876708 2019
DICER1-Related Embryonal Rhabdomyosarcoma of the Uterine Corpus in a Prepubertal Girl. 61
31838154 2019
Molecular Characterization of a Rare Dedifferentiated Liposarcoma With Rhabdomyosarcomatous Differentiation in a 24 Year Old. 61
31801397 2019
Primary Sarcomas of the Larynx: A Single Institutional Experience with Ten Cases. 61
31813100 2019
Embryonal Rhabdomyosarcoma (Botryoid Subtype) Affecting the Buccal Mucosa. 61
30094776 2019
Primary cardiac rhabdomyosarcoma successfully treated with eribulin: a case report. 61
31725047 2019
Triton tumor of the orbit. 61
31746248 2019
Neurofibromatosis-1 and Rhabdomyosarcoma: An Unusual Recurrence. 61
31794814 2019
Vinorelbine and continuous low-dose cyclophosphamide as maintenance chemotherapy in patients with high-risk rhabdomyosarcoma (RMS 2005): a multicentre, open-label, randomised, phase 3 trial. 61
31562043 2019
Is TLE1 Expression Limited to Synovial Sarcoma? Our Experience at Shifa International Hospital, Pakistan. 61
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Variations for Embryonal Rhabdomyosarcoma

ClinVar genetic disease variations for Embryonal Rhabdomyosarcoma:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PTPN11 NM_002834.4(PTPN11):c.1508G>T (p.Gly503Val)SNV Likely pathogenic 40560 rs397507546 12:112926888-112926888 12:112489084-112489084
2 MSH2 NM_000251.2(MSH2):c.2732T>G (p.Leu911Arg)SNV Conflicting interpretations of pathogenicity 91039 rs41295182 2:47710015-47710015 2:47482876-47482876
3 STK11 NM_000455.4(STK11):c.1180G>A (p.Gly394Ser)SNV Uncertain significance 184046 rs768780695 19:1226524-1226524 19:1226525-1226525

Cosmic variations for Embryonal Rhabdomyosarcoma:

# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM112255322 soft tissue,vagina,rhabdomyosarcoma,embryonal c.637C>T p.R213* 17:7674894-7674894 0

Copy number variations for Embryonal Rhabdomyosarcoma from CNVD:

# 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 13)
# Super pathways Score Top Affiliating Genes
Show member pathways
Show member pathways
Show member pathways
12.2 TP53 PTPN11 IGF2 HRAS
5 11.99 YAP1 PTCH1 PAX3 GLI1
6 11.96 TP53 PTPN11 PTCH1 IGF2 HRAS
7 11.91 TP53 HRAS FOXO1 CDK4
8 11.56 MYOD1 FOXO1 CDK4
9 11.52 TP53 HRAS CDK4
10 11.45 TP53 MYCN HRAS
11 11.4 TP53 IGF2 HRAS FOXO1 CDK4
12 11.37 TP53 PAX7 PAX3 MYCN FOXO1 EWSR1
13 11.09 TP53 MYOD1 FOXO1

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 nuclear chromatin GO:0000790 9.8 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 19)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.96 YAP1 IGF2 HRAS GLI1 CDK4
2 multicellular organism development GO:0007275 9.92 TP53 PAX7 PAX3 MYOG MYOD1 IGF2
3 regulation of transcription, DNA-templated GO:0006355 9.91 TP53 PAX7 PAX3 MYOG MYOD1 MYCN
4 negative regulation of cell proliferation GO:0008285 9.89 TP53 PTCH1 MYOG HRAS DUX4
5 negative regulation of gene expression GO:0010629 9.88 TP53 MYCN HRAS DICER1
6 regulation of gene expression GO:0010468 9.84 YAP1 PAX7 MYOD1 CDK4
7 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.74 TP53 PTPN11 IGF2
8 animal organ morphogenesis GO:0009887 9.73 PTCH1 PAX3 IGF2 HRAS
9 muscle organ development GO:0007517 9.67 PAX7 PAX3 MYOG MYOD1
10 skeletal muscle tissue development GO:0007519 9.63 PAX7 MYOG MYOD1
11 positive regulation of transcription, DNA-templated GO:0045893 9.61 YAP1 TP53 PTCH1 PAX3 MYOG MYOD1
12 dorsal/ventral neural tube patterning GO:0021904 9.58 PTCH1 PAX7
13 cellular response to gamma radiation GO:0071480 9.58 YAP1 TP53 HRAS
14 myotube differentiation GO:0014902 9.55 MYOG MYOD1
15 regulation of cell proliferation GO:0042127 9.55 YAP1 TP53 PTCH1 FOXO1 CDK4
16 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:1903800 9.52 TP53 MYCN
17 positive regulation of skeletal muscle fiber development GO:0048743 9.51 MYOG MYOD1
18 muscle cell fate commitment GO:0042693 9.48 MYOG MYOD1
19 positive regulation of transcription by RNA polymerase II GO:0045944 9.4 YAP1 TP53 PAX7 PAX3 MYOG MYOD1

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.85 TP53 PAX7 PAX3 MYOG MYOD1 MYCN
2 DNA-binding transcription factor activity GO:0003700 9.8 TP53 PAX7 PAX3 MYOG MYOD1 MYCN
3 chromatin binding GO:0003682 9.77 YAP1 TP53 MYOD1 GLI1 FOXO1
4 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.72 TP53 MYOG MYOD1 MYCN DUX4
5 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.56 TP53 PAX7 PAX3 MYOG MYOD1 MYCN
6 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.17 YAP1 TP53 MYOG MYOD1 MYCN GLI1

Sources for Embryonal Rhabdomyosarcoma

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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