MCID: EMB005
MIFTS: 54

Embryonal Rhabdomyosarcoma

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 54 30 6 15 17
Rhabdomyosarcoma, Embryonal 77 45 41 74
Rhabdomyosarcoma Embryonal 54 56
Botryoid Rhabdomyosarcoma 54 74
Spindle Cell Rhabdomyosarcomas 54
Erms 54

Classifications:



External Ids:

Disease Ontology 12 DOID:3246
MeSH 45 D018233
NCIt 51 C8971
SNOMED-CT 69 14269005

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 botryoid rhabdomyosarcoma and spindle cell rhabdomyosarcoma. An important gene associated with Embryonal Rhabdomyosarcoma is PAX3 (Paired Box 3), and among its related pathways/superpathways are Immune response IL-23 signaling pathway and EGF/EGFR Signaling Pathway. The drugs Cyclophosphamide and Dactinomycin 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 Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435)

Wikipedia : 77 Sarcoma botryoides or botryoid sarcoma or botryoid rhabdomyosarcoma is a subtype of embryonal... 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 160)
# Related Disease Score Top Affiliating Genes
1 botryoid rhabdomyosarcoma 33.1 DES MB MYOD1 PAX3
2 spindle cell rhabdomyosarcoma 32.7 DES MB MYOD1
3 orbit rhabdomyosarcoma 31.1 MB MYOG
4 ectomesenchymoma 30.4 DES FOXO1 HRAS
5 gallbladder sarcoma 30.4 DES MYOD1 MYOG
6 cystic nephroma 30.2 DES DICER1
7 embryonal sarcoma 30.2 DES MYOD1 MYOG
8 pleuropulmonary blastoma 30.1 DICER1 MB MYCN
9 breast rhabdomyosarcoma 30.0 FOXO1 MB MYOD1 MYOG
10 malignant ectomesenchymoma 30.0 DES FOXO1 HRAS
11 soft tissue sarcoma 29.9 EWSR1 FOXO1
12 leiomyosarcoma 29.6 DES IGF2 MB MYOG
13 medullomyoblastoma 29.2 DES MB MYCN MYOD1 MYOG
14 wilms tumor 1 28.8 EWSR1 IGF2 MYCN MYOG
15 rhabdomyosarcoma 28.5 DES DICER1 EWSR1 FOXO1 IGF2 MB
16 rhabdomyosarcoma 2 28.4 DES EWSR1 FOXO1 MB MYCN MYOD1
17 parameningeal embryonal rhabdomyosarcoma 12.6
18 vagina botryoid rhabdomyosarcoma 12.5
19 adult botryoid rhabdomyosarcoma 12.5
20 adult vagina botryoid rhabdomyosarcoma 12.5
21 prostate embryonal rhabdomyosarcoma 12.5
22 orbit embryonal rhabdomyosarcoma 12.5
23 vulvar childhood botryoid-type embryonal rhabdomyosarcoma 12.3
24 rhabdomyosarcoma, embryonal, 1 11.4
25 rhabdomyosarcoma, embryonal, 2 11.3
26 embryonal extrahepatic bile duct rhabdomyosarcoma 11.3
27 mixed type rhabdomyosarcoma 11.3
28 childhood botryoid rhabdomyosarcoma 11.3
29 childhood vagina botryoid rhabdomyosarcoma 11.3
30 sarcoma 10.5
31 mycobacterium abscessus 10.5
32 prostate rhabdomyosarcoma 10.4
33 pulmonary blastoma 10.4 DES DICER1
34 kidney sarcoma 10.4 DICER1 MB
35 giant cell myocarditis 10.4 DES MB
36 myofibroma 10.3 DES MB
37 spindle cell lipoma 10.3 DES FOXO1
38 undifferentiated embryonal sarcoma of the liver 10.2 MYOD1 MYOG
39 malignant fibrous histiocytoma of bone 10.2 DES MYOD1
40 costello syndrome 10.2
41 horner's syndrome 10.2 DES MYOD1
42 breast cancer 10.2
43 myelodysplastic myeloproliferative cancer 10.2 HRAS PTPN11
44 adenosarcoma 10.2 DES MB
45 mesenchymoma 10.2 DES MB MYOD1
46 kidney rhabdoid cancer 10.2 EWSR1 MB
47 malignant triton tumor 10.2 DES MB MYOD1
48 biphasic synovial sarcoma 10.2 DES EWSR1
49 cellular myxoid liposarcoma 10.2 EWSR1 PAX7
50 alveolar soft part sarcoma 10.1 DES MB MYOD1

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:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability in esophageal squamous lineage GR00235-A 9.76 DES HRAS MB MYCN MYOD1 PAX7
2 Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435) GR00104-A-0 9.13 FOXO1 IGF2 PTPN11
3 Reduced mammosphere formation GR00396-S 9.1 DES DICER1 FOXO1 HRAS IGF2 PTPN11

MGI Mouse Phenotypes related to Embryonal Rhabdomyosarcoma:

47 (show all 23)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.39 DES DICER1 FOXO1 HRAS IGF2 MYCN
2 cardiovascular system MP:0005385 10.38 DES DICER1 FOXO1 HRAS IGF2 MB
3 growth/size/body region MP:0005378 10.37 DICER1 FOXO1 HRAS IGF2 MB MYCN
4 homeostasis/metabolism MP:0005376 10.35 DES DICER1 FOXO1 HRAS IGF2 MB
5 cellular MP:0005384 10.34 DES DICER1 FOXO1 IGF2 MB MYCN
6 embryo MP:0005380 10.32 DICER1 FOXO1 IGF2 MB MYCN MYOG
7 mortality/aging MP:0010768 10.32 DES DICER1 FOXO1 HRAS IGF2 MB
8 muscle MP:0005369 10.27 DES DICER1 FOXO1 IGF2 MB MYCN
9 craniofacial MP:0005382 10.24 DICER1 FOXO1 HRAS IGF2 MYCN PAX3
10 digestive/alimentary MP:0005381 10.24 FOXO1 HRAS IGF2 MYCN PAX3 PAX7
11 endocrine/exocrine gland MP:0005379 10.22 DICER1 FOXO1 HRAS IGF2 PAX3 PAX7
12 hematopoietic system MP:0005397 10.2 DICER1 FOXO1 IGF2 MB MYCN PAX3
13 integument MP:0010771 10.18 DICER1 FOXO1 HRAS IGF2 MYOG PAX3
14 no phenotypic analysis MP:0003012 10.11 DICER1 FOXO1 HRAS IGF2 MYCN MYOD1
15 neoplasm MP:0002006 10.09 DICER1 FOXO1 HRAS MYOD1 PAX3 PAX7
16 nervous system MP:0003631 10.06 DICER1 HRAS IGF2 MYCN PAX3 PAX7
17 limbs/digits/tail MP:0005371 10.05 DICER1 FOXO1 IGF2 MYCN PAX3 PTCH1
18 liver/biliary system MP:0005370 10.04 DICER1 FOXO1 IGF2 MYCN PAX3 PTPN11
19 normal MP:0002873 10.02 DICER1 FOXO1 HRAS MYCN MYOD1 MYOG
20 respiratory system MP:0005388 9.93 DICER1 HRAS IGF2 MB MYCN MYOD1
21 renal/urinary system MP:0005367 9.8 DICER1 HRAS IGF2 MYCN PAX3 PTCH1
22 skeleton MP:0005390 9.7 DICER1 FOXO1 HRAS IGF2 MYCN MYOD1
23 vision/eye MP:0005391 9.1 IGF2 MYCN PAX3 PAX7 PTCH1 PTPN11

Drugs & Therapeutics for Embryonal Rhabdomyosarcoma

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

(show top 50) (show all 113)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational Phase 3,Phase 2,Phase 1 50-18-0, 6055-19-2 2907
2
Dactinomycin Approved, Investigational Phase 3,Phase 2 50-76-0 457193 2019
3
Vincristine Approved, Investigational Phase 3,Phase 2 2068-78-2, 57-22-7 5978
4
Morphine Approved, Investigational Phase 3,Phase 1,Phase 2 57-27-2 5288826
5
Irinotecan Approved, Investigational Phase 3,Phase 2,Phase 1 100286-90-6, 97682-44-5 60838
6
Lenograstim Approved, Investigational Phase 3,Phase 2,Phase 1 135968-09-1
7
Sargramostim Approved, Investigational Phase 3,Phase 2,Phase 1 123774-72-1, 83869-56-1
8
Topotecan Approved, Investigational Phase 3,Phase 1 119413-54-6, 123948-87-8 60700
9
Everolimus Approved Phase 3,Phase 2 159351-69-6 70789204 6442177
10
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2 22916-47-8 4189
11
Sirolimus Approved, Investigational Phase 3,Phase 2 53123-88-9 46835353 5284616 6436030
12
Vinorelbine Approved, Investigational Phase 3,Phase 2 71486-22-1 44424639 60780
13
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
14
Camptothecin Experimental Phase 3,Phase 2 7689-03-4
15
Emodepside Investigational, Vet_approved Phase 3,Phase 2 155030-63-0
16 Antibiotics, Antitubercular Phase 3,Phase 2,Phase 1
17 Immunologic Factors Phase 3,Phase 2,Phase 1
18 Antimitotic Agents Phase 3,Phase 2
19 Alkylating Agents Phase 3,Phase 2,Phase 1
20 Antineoplastic Agents, Alkylating Phase 3,Phase 2,Phase 1
21 Anti-Infective Agents Phase 3,Phase 2
22 Immunosuppressive Agents Phase 3,Phase 2,Phase 1
23 Nucleic Acid Synthesis Inhibitors Phase 3,Phase 2
24 Antineoplastic Agents, Phytogenic Phase 3,Phase 2
25 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1
26 Antirheumatic Agents Phase 3,Phase 2
27 topoisomerase I inhibitors Phase 3,Phase 2,Phase 1
28 Topoisomerase Inhibitors Phase 3,Phase 2,Phase 1
29 Adjuvants, Immunologic Phase 3,Phase 1
30 Bone Density Conservation Agents Phase 3
31 Hormones Phase 3,Phase 2
32 Calcium, Dietary Phase 3
33 Antifungal Agents Phase 3,Phase 2
34
Fludarabine Approved Phase 1, Phase 2,Phase 2 75607-67-9, 21679-14-1 30751
35
Doxorubicin Approved, Investigational Phase 2,Phase 1 23214-92-8 31703
36
Ifosfamide Approved Phase 2 3778-73-2 3690
37
Mechlorethamine Approved, Investigational Phase 2,Phase 1 51-75-2 4033
38
Etoposide Approved Phase 2 33419-42-0 36462
39
Temozolomide Approved, Investigational Phase 2,Phase 1 85622-93-1 5394
40
Bevacizumab Approved, Investigational Phase 2 216974-75-3
41
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563
42
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
43
Etanercept Approved, Investigational Phase 2 185243-69-0
44
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
45
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
46
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
47
Trabectedin Approved, Investigational Phase 2 114899-77-3 108150
48
Oxaliplatin Approved, Investigational Phase 2,Phase 1 61825-94-3 43805 6857599 5310940 9887054
49
Dasatinib Approved, Investigational Phase 1, Phase 2 302962-49-8 3062316
50
Mecasermin Approved, Investigational Phase 1, Phase 2 68562-41-4

Interventional clinical trials:

(show all 50)
# Name Status NCT ID Phase Drugs
1 Vincristine, Dactinomycin, and Cyclophosphamide With or Without Radiation Therapy in Treating Patients With Newly Diagnosed Low-Risk Rhabdomyosarcoma Unknown status NCT00075582 Phase 3 dactinomycin;cyclophosphamide;vincristine sulfate
2 Combination Chemotherapy and Radiation Therapy in Treating Patients With Newly Diagnosed Rhabdomyosarcoma Completed NCT00354835 Phase 3 Irinotecan Hydrochloride;Cyclophosphamide;Vincristine Sulfate
3 Combination Chemotherapy in Treating Patients With Previously Untreated Rhabdomyosarcoma Completed NCT00003958 Phase 3 vincristine sulfate;cyclophosphamide;topotecan hydrochloride
4 Supersaturated Calcium Phosphate Rinse in Preventing Oral Mucositis in Young Patients Undergoing Autologous or Donor Stem Cell Transplant Completed NCT01305200 Phase 3 supersaturated calcium phosphate rinse
5 Combination Chemotherapy With or Without Temsirolimus in Treating Patients With Intermediate Risk Rhabdomyosarcoma Recruiting NCT02567435 Phase 3 Cyclophosphamide;Irinotecan Hydrochloride;Temsirolimus;Vincristine Sulfate;Vinorelbine
6 Vincristine, Dactinomycin, and Cyclophosphamide in Treating Patients With Embryonal Rhabdomyosarcoma Unknown status NCT00245089 Phase 2 cyclophosphamide;vincristine sulfate
7 Vincristine, Dactinomycin, and Cyclophosphamide With or Without Radiation Therapy in Treating Patients With Embryonal Rhabdomyosarcoma Unknown status NCT00245141 Phase 2 cyclophosphamide;vincristine sulfate
8 Therapy to Treat Ewing's Sarcoma, Rhabdomyosarcoma or Neuroblastoma Completed NCT00923351 Phase 1, Phase 2 Tumor Purged/CD25 Depleted Lymphocytes;rhIL-7
9 Temozolomide, Cixutumumab, and Combination Chemotherapy in Treating Patients With Metastatic Rhabdomyosarcoma Completed NCT01055314 Phase 2 Cyclophosphamide;Doxorubicin Hydrochloride;Etoposide;Ifosfamide;Irinotecan Hydrochloride;Temozolomide;Vincristine Sulfate Liposome
10 Phase II Study of Imatinib Mesylate in Patients With Life Threatening Malignant Rare Diseases Completed NCT00154388 Phase 2 Imatinib mesylate
11 Comparison of Chemotherapy Regimens in Treating Children With Relapsed or Progressive Rhabdomyosarcoma Completed NCT00025363 Phase 2 vincristine sulfate;irinotecan hydrochloride;cyclophosphamide;doxorubicin hydrochloride;ifosfamide;etoposide;tirapazamine
12 Vinorelbine Tartrate and Cyclophosphamide in Combination With Bevacizumab or Temsirolimus in Treating Patients With Recurrent or Refractory Rhabdomyosarcoma Completed NCT01222715 Phase 2 Cyclophosphamide;Temsirolimus;Vinorelbine Tartrate
13 Cixutumumab and Temsirolimus in Treating Younger Patients With Recurrent or Refractory Sarcoma Completed NCT01614795 Phase 2 Temsirolimus
14 Sorafenib Tosylate in Treating Younger Patients With Relapsed or Refractory Rhabdomyosarcoma, Wilms Tumor, Liver Cancer, or Thyroid Cancer Completed NCT01502410 Phase 2 sorafenib tosylate
15 Alisertib in Treating Young Patients With Recurrent or Refractory Solid Tumors or Leukemia Completed NCT01154816 Phase 2 Alisertib
16 Cixutumumab in Treating Patients With Relapsed or Refractory Solid Tumors Completed NCT00831844 Phase 2
17 Ixabepilone in Treating Young Patients With Refractory Solid Tumors Completed NCT00331643 Phase 2 ixabepilone
18 Etanercept in Treating Young Patients With Idiopathic Pneumonia Syndrome After Undergoing a Donor Stem Cell Transplant Completed NCT00309907 Phase 2 methylprednisolone
19 Trabectedin in Treating Young Patients With Recurrent or Refractory Soft Tissue Sarcoma or Ewing's Family of Tumors Completed NCT00070109 Phase 2 trabectedin
20 Oxaliplatin in Treating Young Patients With Recurrent Solid Tumors That Have Not Responded to Previous Treatment Completed NCT00091182 Phase 2 oxaliplatin
21 Irinotecan in Treating Children With Refractory Solid Tumors Completed NCT00004078 Phase 2 irinotecan hydrochloride
22 Insulin-like Growth Factor 1 Receptor (IGF-1R) Antibody AMG479 (Ganitumab) in Combination With the Src Family Kinase (SFK) Inhibitor Dasatinib in People With Embryonal and Alveolar Rhabdomyosarcoma Recruiting NCT03041701 Phase 1, Phase 2 Dasatinib;Ganitumab
23 Efficacy and Safety of Radiotherapy Combined With Apatinib Mesylate in the Treatment of Rhabdomyosarcoma in Children Recruiting NCT03868852 Phase 1, Phase 2 Apatinib mesylate tablets
24 Proton RT for the Treatment of Pediatric Rhabdomyosarcoma Recruiting NCT00592592 Phase 2
25 Olaparib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With Defects in DNA Damage Repair Genes (A Pediatric MATCH Treatment Trial) Recruiting NCT03233204 Phase 2 Olaparib
26 Larotrectinib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With NTRK Fusions (A Pediatric MATCH Treatment Trial) Recruiting NCT03213704 Phase 2 Larotrectinib;Larotrectinib Sulfate
27 Erdafitinib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With FGFR Mutations (A Pediatric MATCH Treatment Trial) Recruiting NCT03210714 Phase 2 Erdafitinib
28 Targeted Therapy Directed by Genetic Testing in Treating Pediatric Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphomas, or Histiocytic Disorders (The Pediatric MATCH Screening Trial) Recruiting NCT03155620 Phase 2 Ensartinib;Erdafitinib;Larotrectinib;Olaparib;Palbociclib;PI3K/mTOR Inhibitor LY3023414;Selumetinib Sulfate;Tazemetostat;Ulixertinib;Vemurafenib
29 Imetelstat Sodium in Treating Younger Patients With Relapsed or Refractory Solid Tumors Withdrawn NCT02011126 Phase 2 Imetelstat Sodium
30 Cixutumumab and Doxorubicin Hydrochloride in Treating Patients With Unresectable, Locally Advanced, or Metastatic Soft Tissue Sarcoma Completed NCT00720174 Phase 1 Doxorubicin Hydrochloride
31 Oxaliplatin and Irinotecan in Treating Young Patients With Refractory Solid Tumors or Lymphomas Completed NCT00101270 Phase 1 irinotecan hydrochloride;oxaliplatin
32 Tanespimycin in Treating Young Patients With Recurrent or Refractory Leukemia or Solid Tumors Completed NCT00093821 Phase 1 tanespimycin
33 Erlotinib and Temozolomide in Treating Young Patients With Recurrent or Refractory Solid Tumors Completed NCT00077454 Phase 1 erlotinib hydrochloride;temozolomide
34 Flavopiridol in Treating Children With Relapsed or Refractory Solid Tumors or Lymphomas Completed NCT00012181 Phase 1 alvocidib
35 Busulfan, Melphalan, Topotecan Hydrochloride, and a Stem Cell Transplant in Treating Patients With Newly Diagnosed or Relapsed Solid Tumor Active, not recruiting NCT00638898 Phase 1 busulfan;melphalan;topotecan hydrochloride
36 Studying Mechanisms of Radiation Therapy Resistance in Samples From Younger Patients With Rhabdomyosarcoma Completed NCT01626170
37 Biomarkers in Patients With Advanced Rhabdomyosarcoma Completed NCT01668095
38 Collecting Tumor Samples From Patients With Gynecological Tumors Completed NCT00897442
39 Studying Protein Expression in Tissue Samples From Younger Patients With Rhabdomyosarcoma Completed NCT01609803
40 Biomarkers in Tumor Tissue Samples From Younger Patients With Rhabdomyosarcoma Completed NCT01496573
41 Intensity-Modulated Radiation Therapy in Treating Younger Patients With Lung Metastases Completed NCT01586104 Not Applicable
42 Collecting and Storing Tissue From Young Patients With Cancer Completed NCT00898755
43 Evaluating Dactinomycin and Vincristine in Young Patients With Cancer Completed NCT00674193
44 Lithium Carbonate in Treating Patients With Acute Intestinal Graft-Versus-Host-Disease (GVHD) After Donor Stem Cell Transplant Completed NCT00408681 Not Applicable lithium carbonate
45 Genetic Mutational Analysis of Saliva or Buccal Mucosa Samples From Patients With Embryonal or Alveolar Rhabdomyosarcoma Recruiting NCT03296371
46 International PPB Registry for PPB, DICER1 and Associated Conditions Recruiting NCT03382158
47 DICER1-related Pleuropulmonary Blastoma Cancer Predisposition Syndrome: A Natural History Study Recruiting NCT01247597
48 Ex Vivo Drug Sensitivity Testing and Mutation Profiling Recruiting NCT03860376
49 Elucidating the Genetic Basis of the Pleuropulmonary Blastoma (PPB) Familial Cancer Syndrome Active, not recruiting NCT00565903
50 Collecting and Storing Tissue, Blood, and Bone Marrow Samples From Patients With Rhabdomyosarcoma or Other Soft Tissue Sarcoma Active, not recruiting NCT00919269

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 30

Anatomical Context for Embryonal Rhabdomyosarcoma

MalaCards organs/tissues related to Embryonal Rhabdomyosarcoma:

42
Prostate, Skeletal Muscle, Cervix, Bone, Liver, Testes, Kidney

Publications for Embryonal Rhabdomyosarcoma

Articles related to Embryonal Rhabdomyosarcoma:

(show top 50) (show all 527)
# Title Authors Year
1
Nasal embryonal rhabdomyosarcoma with bone marrow metastasis simulating acute leukemia: A case report and review of the literature. ( 30902383 )
2019
2
DICER1 mutation-positive giant botryoid fibroepithelial polyp of the urinary bladder mimicking embryonal rhabdomyosarcoma. ( 29883781 )
2019
3
PARP inhibitors affect growth, survival and radiation susceptibility of human alveolar and embryonal rhabdomyosarcoma cell lines. ( 30357520 )
2019
4
Caveolin-1 enhances metastasis formation in a human model of embryonal rhabdomyosarcoma through Erk signaling cooperation. ( 30771426 )
2019
5
Embryonal rhabdomyosarcoma in a patient with a germline CBL pathogenic variant. ( 30803559 )
2019
6
Aggressive embryonal rhabdomyosarcoma in a 3-month-old boy: A clinical and molecular analysis. ( 30806137 )
2019
7
c-Myb regulates tumorigenic potential of embryonal rhabdomyosarcoma cells. ( 31004084 )
2019
8
Focal adhesion kinase (FAK) phosphorylation is a key regulator of embryonal rhabdomyosarcoma (ERMS) cell viability and migration. ( 31006845 )
2019
9
12-O-tetradecanoylphorbol-13-acetate and EZH2 inhibition: A novel approach for promoting myogenic differentiation in embryonal rhabdomyosarcoma cells. ( 28722764 )
2018
10
When Chemotherapy Is Not Enough-Management of Prostatic Embryonal Rhabdomyosarcoma in an Infant. ( 29155187 )
2018
11
Congenital embryonal rhabdomyosarcoma caused by heterozygous concomitant PTCH1 and PTCH2 germline mutations. ( 29230040 )
2018
12
Small round cell myofibroblastoma of the oral cavity: A tumor mimicking embryonal rhabdomyosarcoma. ( 29487010 )
2018
13
Prosthetic rehabilitation for a patient treated for embryonal rhabdomyosarcoma. ( 29551375 )
2018
14
Embryonal rhabdomyosarcoma of urinary bladder in an adult patient: an unusual manifestation. ( 29654103 )
2018
15
Corrigendum: Ermoian RP, Breneman J, Walterhouse DO, et al. 45 Gy is not sufficient radiotherapy dose for Group III orbital embryonal rhabdomyosarcoma after less than complete response to 12 weeks of ARST0331 chemotherapy. Pediatr Blood Cancer. 2017;64:E26540. https://doi.org/10.1002/pbc.26540. ( 29679530 )
2018
16
Pediatric Robotic Prostatectomy and Pelvic Lymphadenectomy for Embryonal Rhabdomyosarcoma. ( 29702157 )
2018
17
Giant intrascrotal embryonal rhabdomyosarcoma in an adult: a case report and review of the literature. ( 29804543 )
2018
18
The prognosis and effects of local treatment strategies for orbital embryonal rhabdomyosarcoma: a population-based study. ( 29983592 )
2018
19
Diagnosis and Multimodal Treatment of Metastatic Maxillofacial Juvenile Embryonal Rhabdomyosarcoma in a Young Golden Retriever. ( 30040001 )
2018
20
Embryonal Rhabdomyosarcoma (Botryoid Subtype) Affecting the Buccal Mucosa. ( 30094776 )
2018
21
tp53 deficiency causes a wide tumor spectrum and increases embryonal rhabdomyosarcoma metastasis in zebrafish. ( 30192230 )
2018
22
Successful treatment of relapsed testicular embryonal rhabdomyosarcoma with Endostar and traditional chemotherapy: a case report. ( 30214234 )
2018
23
Embryonal rhabdomyosarcoma within abdomen and pelvis in an adult. ( 30350743 )
2018
24
Analysis of the relationship between the KRAS G12V oncogene and the Hippo effector YAP1 in embryonal rhabdomyosarcoma. ( 30353028 )
2018
25
A rare pure embryonal rhabdomyosarcoma of the urinary bladder in an adult successfully managed with neoadjuvant chemotherapy and surgery: a case report. ( 30390704 )
2018
26
Laparoscopic Radical Trachelectomy for Embryonal Rhabdomyosarcoma of the Cervix in a 2-Year-Old Girl. ( 30399094 )
2018
27
Primary cutaneous embryonal rhabdomyosarcoma with desmoplastic growth pattern and anaplastic lymphoma kinase overexpression. Report of a case with special emphasis on the differential diagnosis. ( 30597602 )
2018
28
Cytotoxicity of Zardaverine in Embryonal Rhabdomyosarcoma from a Costello Syndrome Patient. ( 28421158 )
2017
29
Massive Embryonal Rhabdomyosarcoma of the Hand in an Infant With Metastasis at Birth: Management Dilemma. ( 28718313 )
2017
30
A Novel Notch-YAP Circuit Drives Stemness and Tumorigenesis in Embryonal Rhabdomyosarcoma. ( 28923841 )
2017
31
Pharmacological targeting of the ephrin receptor kinase signalling by GLPG1790 in vitro and in vivo reverts oncophenotype, induces myogenic differentiation and radiosensitizes embryonal rhabdomyosarcoma cells. ( 28985758 )
2017
32
Mandibular embryonal rhabdomyosarcoma with cartilaginous metaplasia: report of a case and review of literature. ( 29029988 )
2017
33
Embryonal rhabdomyosarcoma of the biliary tree: A rare cause of obstructive jaundice in children which can mimic choledochal cysts. ( 29089679 )
2017
34
Embryonal rhabdomyosarcoma in the maxillary sinus with orbital involvement in a pediatric patient: Case report. ( 29291204 )
2017
35
Embryonal Rhabdomyosarcoma of the Cervix: A Rare Disease at an Uncommon Age. ( 29375950 )
2017
36
Pediatric Anaplastic Embryonal Rhabdomyosarcoma: Targeted Therapy Guided by Genetic Analysis and a Patient-Derived Xenograft Study. ( 29376028 )
2017
37
A case report of concurrent embryonal rhabdomyosarcoma and diffuse large B-cell lymphoma in an adult without identifiable cancer predisposition. ( 28194276 )
2017
38
Embryonal Rhabdomyosarcoma of the Oral Cavity. ( 27743320 )
2017
39
Embryonal Rhabdomyosarcoma of the Oesophagus in a Young Dog. ( 27865423 )
2017
40
Embryonal rhabdomyosarcoma in a patient with a heterozygous frameshift variant in the DICER1 gene and additional manifestations of the DICER1 syndrome. ( 27896549 )
2017
41
Congenital embryonal rhabdomyosarcoma; multiple lesions. ( 28103501 )
2017
42
Stage 1 embryonal rhabdomyosarcoma of the female genital tract: a retrospective clinical study of nine cases. ( 28173865 )
2017
43
The prognostic value of early radiographic response in children and adolescents with embryonal rhabdomyosarcoma stage IV, metastases confined to the lungs: A report from the Cooperative Weichteilsarkom Studiengruppe (CWS). ( 28306214 )
2017
44
NELL1, whose high expression correlates with negative outcomes, has different methylation patterns in alveolar and embryonal rhabdomyosarcoma. ( 28380437 )
2017
45
Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma. ( 28524158 )
2017
46
A rare case of embryonal rhabdomyosarcoma of the parapharyngeal space. ( 28530261 )
2017
47
45 Gy is not sufficient radiotherapy dose for Group III orbital embryonal rhabdomyosarcoma after less than complete response to 12 weeks of ARST0331 chemotherapy: A report from the Soft Tissue Sarcoma Committee of the Children's Oncology Group. ( 28548706 )
2017
48
Clinicopathological analysis of concomitant hepatic embryonal rhabdomyosarcoma and hepatocellular carcinoma. ( 28554759 )
2017
49
The NOTCH1/SNAIL1/MEF2C Pathway Regulates Growth and Self-Renewal in Embryonal Rhabdomyosarcoma. ( 28614716 )
2017
50
Frequent HRAS Mutations in Malignant Ectomesenchymoma: Overlapping Genetic Abnormalities With Embryonal Rhabdomyosarcoma. ( 26872011 )
2016

Variations for Embryonal Rhabdomyosarcoma

ClinVar genetic disease variations for Embryonal Rhabdomyosarcoma:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PTPN11 NM_002834.4(PTPN11): c.1508G> T (p.Gly503Val) single nucleotide variant Likely pathogenic rs397507546 GRCh37 Chromosome 12, 112926888: 112926888
2 PTPN11 NM_002834.4(PTPN11): c.1508G> T (p.Gly503Val) single nucleotide variant Likely pathogenic rs397507546 GRCh38 Chromosome 12, 112489084: 112489084
3 MSH2 NM_000251.2(MSH2): c.2732T> G (p.Leu911Arg) single nucleotide variant Uncertain significance rs41295182 GRCh37 Chromosome 2, 47710015: 47710015
4 MSH2 NM_000251.2(MSH2): c.2732T> G (p.Leu911Arg) single nucleotide variant Uncertain significance rs41295182 GRCh38 Chromosome 2, 47482876: 47482876
5 STK11 NM_000455.4(STK11): c.1180G> A (p.Gly394Ser) single nucleotide variant Uncertain significance rs768780695 GRCh38 Chromosome 19, 1226525: 1226525
6 STK11 NM_000455.4(STK11): c.1180G> A (p.Gly394Ser) single nucleotide variant Uncertain significance rs768780695 GRCh37 Chromosome 19, 1226524: 1226524

Cosmic variations for Embryonal Rhabdomyosarcoma:

9 (show all 16)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM10654 TP53 soft tissue,vagina,rhabdomyosarcoma,embryonal c.637C>T p.R213* 17:7674894-7674894 0
2 COSM44720 TP53 soft tissue,vagina,rhabdomyosarcoma,embryonal c.961A>T p.K321* 17:7673567-7673567 0
3 COSM13016 PTPN11 soft tissue,bladder,rhabdomyosarcoma,embryonal c.226G>C p.E76Q 12:112450406-112450406 0
4 COSM580 NRAS soft tissue,vagina,rhabdomyosarcoma,embryonal c.181C>A p.Q61K 1:114713909-114713909 0
5 COSM532 KRAS soft tissue,bladder,rhabdomyosarcoma,embryonal c.38G>A p.G13D 12:25245347-25245347 0
6 COSM6930430 KMT2D soft tissue,vagina,rhabdomyosarcoma,embryonal c.1291G>T p.E431* 12:49052392-49052392 0
7 COSM99615 soft tissue,vagina,rhabdomyosarcoma,embryonal c.637C>T p.R213* 17:7674894-7674894 0
8 COSM6930429 soft tissue,vagina,rhabdomyosarcoma,embryonal c.1291G>T p.E431* 12:49052392-49052392 0
9 COSM99616 soft tissue,vagina,rhabdomyosarcoma,embryonal c.241C>T p.R81* 17:7674894-7674894 0
10 COSM3732985 soft tissue,vagina,rhabdomyosarcoma,embryonal c.961A>T p.K321* 17:7673567-7673567 0
11 COSM99618 soft tissue,vagina,rhabdomyosarcoma,embryonal c.637C>T p.R213* 17:7674894-7674894 0
12 COSM3732987 soft tissue,vagina,rhabdomyosarcoma,embryonal c.961A>T p.K321* 17:7673567-7673567 0
13 COSM3732986 soft tissue,vagina,rhabdomyosarcoma,embryonal c.961A>T p.K321* 17:7673567-7673567 0
14 COSM99617 soft tissue,vagina,rhabdomyosarcoma,embryonal c.358C>T p.R120* 17:7674894-7674894 0
15 COSM1638393 soft tissue,vagina,rhabdomyosarcoma,embryonal c.637C>T p.R213* 17:7674894-7674894 0
16 COSM3378350 soft tissue,vagina,rhabdomyosarcoma,embryonal c.637C>T p.R213* 17:7674894-7674894 0

Copy number variations for Embryonal Rhabdomyosarcoma from CNVD:

7
# CNVD ID Chromosom 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

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 nucleus GO:0005634 9.44 DES DICER1 EWSR1 FOXO1 HRAS MYCN

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.92 EWSR1 FOXO1 IGF2 MYCN MYOD1 MYOG
2 glucose homeostasis GO:0042593 9.69 FOXO1 PTCH1 PTPN11
3 positive regulation of muscle cell differentiation GO:0051149 9.58 MYOD1 MYOG
4 skeletal muscle fiber development GO:0048741 9.58 MYOD1 MYOG
5 skeletal muscle tissue regeneration GO:0043403 9.57 MYOG PAX7
6 positive regulation of myoblast differentiation GO:0045663 9.56 MYOD1 MYOG
7 animal organ morphogenesis GO:0009887 9.56 HRAS IGF2 PAX3 PTCH1
8 myoblast differentiation GO:0045445 9.55 MYOD1 MYOG
9 positive regulation of myoblast fusion GO:1901741 9.54 MYOD1 MYOG
10 skeletal muscle tissue development GO:0007519 9.54 MYOD1 MYOG PAX7
11 positive regulation of insulin receptor signaling pathway GO:0046628 9.52 IGF2 PTPN11
12 positive regulation of transcription, DNA-templated GO:0045893 9.5 FOXO1 MYCN MYOD1 MYOG PAX3 PTCH1
13 striated muscle cell differentiation GO:0051146 9.49 IGF2 MYOD1
14 dorsal/ventral neural tube patterning GO:0021904 9.48 PAX7 PTCH1
15 myotube differentiation GO:0014902 9.46 MYOD1 MYOG
16 muscle organ development GO:0007517 9.46 MYOD1 MYOG PAX3 PAX7
17 positive regulation of skeletal muscle fiber development GO:0048743 9.43 MYOD1 MYOG
18 muscle cell fate commitment GO:0042693 9.4 MYOD1 MYOG
19 positive regulation of transcription by RNA polymerase II GO:0045944 9.28 FOXO1 HRAS IGF2 MYCN MYOD1 MYOG

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

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.35 FOXO1 MYOD1 MYOG PAX3 PAX7
2 insulin receptor binding GO:0005158 9.16 IGF2 PTPN11
3 DNA-binding transcription factor activity GO:0003700 9.1 FOXO1 MYCN MYOD1 MYOG PAX3 PAX7
4 protein binding GO:0005515 10.07 DES DICER1 EWSR1 FOXO1 HRAS IGF2

Sources for Embryonal Rhabdomyosarcoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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