MCID: EMB005
MIFTS: 55

Embryonal Rhabdomyosarcoma

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

Aliases & Classifications for Embryonal Rhabdomyosarcoma

MalaCards integrated aliases for Embryonal Rhabdomyosarcoma:

Name: Embryonal Rhabdomyosarcoma 12 53 29 15
Rhabdomyosarcoma, Embryonal 76 44 40 73
Rhabdomyosarcoma Embryonal 53 55 6
Botryoid Rhabdomyosarcoma 53 73
Spindle Cell Rhabdomyosarcomas 53
Erms 53

Classifications:



External Ids:

Disease Ontology 12 DOID:3246
MeSH 44 D018233
NCIt 50 C8971
SNOMED-CT 68 14269005 404051002

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 spindle cell rhabdomyosarcoma and botryoid rhabdomyosarcoma. An important gene associated with Embryonal Rhabdomyosarcoma is PAX3 (Paired Box 3), and among its related pathways/superpathways are Pathways in cancer and Immune response Function of MEF2 in T lymphocytes. The drugs Carboplatin and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, prostate and bone, and related phenotypes are Reduced mammosphere formation and behavior/neurological

Wikipedia : 76 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 144)
# Related Disease Score Top Affiliating Genes
1 spindle cell rhabdomyosarcoma 32.7 DES MB MYOD1
2 botryoid rhabdomyosarcoma 32.5 DES MB MYOD1 PAX3
3 orbit rhabdomyosarcoma 31.5 MB MYOG
4 cervical polyp 30.7 DES MYOD1
5 cystic nephroma 30.7 DES DICER1
6 malignant ectomesenchymoma 30.6 DES HRAS
7 ectomesenchymoma 30.6 DES HRAS PAX3
8 pleuropulmonary blastoma 30.5 DICER1 MB
9 soft tissue sarcoma 29.7 EWSR1 FOXO1
10 embryonal sarcoma 29.4 CDK4 DES MYOD1 MYOG
11 ewing's family of tumors 28.8 CDK4 EWSR1
12 medullomyoblastoma 28.8 DES MB MYCN MYOD1 MYOG
13 leiomyosarcoma 28.7 CDK4 DES IGF2 MB MYOG
14 rhabdomyosarcoma 2 25.2 CDK4 DES EWSR1 FOXO1 MB MYCN
15 rhabdomyosarcoma 24.3 CDK4 DES DICER1 EWSR1 FOXO1 IGF2
16 parameningeal embryonal rhabdomyosarcoma 12.4
17 prostate embryonal rhabdomyosarcoma 12.3
18 orbit embryonal rhabdomyosarcoma 12.3
19 vulvar childhood botryoid-type embryonal rhabdomyosarcoma 12.1
20 rhabdomyosarcoma, embryonal, 1 11.1
21 embryonal extrahepatic bile duct rhabdomyosarcoma 11.1
22 mixed type rhabdomyosarcoma 11.1
23 childhood botryoid rhabdomyosarcoma 11.1
24 childhood vagina botryoid rhabdomyosarcoma 11.1
25 giant cell myocarditis 10.8 DES MB
26 malignant triton tumor 10.8 DES MB
27 myofibroma 10.7 DES MB
28 pulmonary blastoma 10.7 DES DICER1
29 adenosarcoma 10.6 DES MB
30 horner's syndrome 10.6 DES MYOD1
31 meninges sarcoma 10.5 IGF2 MB
32 prostatitis 10.4
33 pseudosarcomatous fibromatosis 10.4 DES MYOG
34 mixed liposarcoma 10.4 CDK4 MB
35 ischemic fasciitis 10.4 CDK4 DES
36 sarcoma 10.4
37 mesenchymoma 10.3 DES MB MYOD1
38 dedifferentiated liposarcoma 10.3 CDK4 DES
39 alveolar soft part sarcoma 10.3 DES MB MYOD1
40 gallbladder sarcoma 10.3 DES MYOD1 MYOG
41 mixed cell type cancer 10.3 HRAS MB
42 bilateral retinoblastoma 10.3 DES MB MYCN
43 mycobacterium abscessus 10.2
44 conventional leiomyosarcoma 10.2 MYOD1 MYOG PAX7
45 malignant struma ovarii 10.2 HRAS PTCH1
46 cervicitis 10.2
47 spindle cell lipoma 10.1 CDK4 DES FOXO1
48 costello syndrome 10.1
49 biphasic synovial sarcoma 10.1 DES EWSR1
50 kidney rhabdoid cancer 10.1 EWSR1 MB

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 9.1 CDK4 DES DICER1 FOXO1 HRAS IGF2

MGI Mouse Phenotypes related to Embryonal Rhabdomyosarcoma:

46 (show all 23)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.35 DES DICER1 CDK4 FOXO1 IGF2 HRAS
2 cardiovascular system MP:0005385 10.35 DICER1 CDK4 DES FOXO1 IGF2 HRAS
3 growth/size/body region MP:0005378 10.34 FOXO1 DICER1 CDK4 MB IGF2 HRAS
4 homeostasis/metabolism MP:0005376 10.31 DES DICER1 CDK4 MB FOXO1 IGF2
5 cellular MP:0005384 10.3 DES DICER1 CDK4 MB FOXO1 IGF2
6 mortality/aging MP:0010768 10.29 FOXO1 DICER1 CDK4 DES MB IGF2
7 embryo MP:0005380 10.27 DICER1 CDK4 FOXO1 IGF2 MB MYCN
8 muscle MP:0005369 10.23 DICER1 CDK4 FOXO1 DES IGF2 MYCN
9 hematopoietic system MP:0005397 10.2 DICER1 CDK4 MB FOXO1 IGF2 MYCN
10 craniofacial MP:0005382 10.19 FOXO1 DICER1 IGF2 HRAS PAX3 MYCN
11 digestive/alimentary MP:0005381 10.19 CDK4 FOXO1 IGF2 HRAS PAX3 MYCN
12 endocrine/exocrine gland MP:0005379 10.17 DICER1 CDK4 HRAS FOXO1 IGF2 PAX3
13 integument MP:0010771 10.13 DICER1 CDK4 HRAS FOXO1 IGF2 PAX3
14 no phenotypic analysis MP:0003012 10.1 DICER1 FOXO1 IGF2 HRAS MYCN MYOG
15 normal MP:0002873 10.07 FOXO1 DICER1 CDK4 HRAS MYOD1 MYCN
16 neoplasm MP:0002006 10.03 FOXO1 DICER1 CDK4 HRAS MYOD1 PAX3
17 limbs/digits/tail MP:0005371 9.99 DICER1 FOXO1 IGF2 MYCN PAX3 PTCH1
18 liver/biliary system MP:0005370 9.97 DICER1 CDK4 FOXO1 IGF2 MYCN PAX3
19 renal/urinary system MP:0005367 9.87 DICER1 CDK4 HRAS IGF2 MYCN PAX3
20 respiratory system MP:0005388 9.85 DICER1 IGF2 HRAS MB MYCN MYOG
21 reproductive system MP:0005389 9.8 DICER1 CDK4 FOXO1 IGF2 MYOD1 MYCN
22 skeleton MP:0005390 9.65 FOXO1 DICER1 IGF2 HRAS MYOD1 MYCN
23 vision/eye MP:0005391 9.17 DICER1 CDK4 IGF2 MYCN PAX3 PTCH1

Drugs & Therapeutics for Embryonal Rhabdomyosarcoma

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

(show top 50) (show all 136)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carboplatin Approved Phase 3,Phase 2,Phase 1 41575-94-4 10339178 498142 38904
2
Cyclophosphamide Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 50-18-0, 6055-19-2 2907
3
Dactinomycin Approved, Investigational Phase 3,Phase 2 50-76-0 2019 457193
4
Doxorubicin Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 23214-92-8 31703
5
Etoposide Approved Phase 3,Phase 2,Phase 1,Not Applicable 33419-42-0 36462
6
Ifosfamide Approved Phase 3,Phase 2,Not Applicable 3778-73-2 3690
7
Morphine Approved, Investigational Phase 3,Phase 1,Phase 2 57-27-2 5288826
8
Topotecan Approved, Investigational Phase 3,Phase 2,Phase 1 119413-54-6, 123948-87-8 60700
9
Vincristine Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 2068-78-2, 57-22-7 5978
10
Vinorelbine Approved, Investigational Phase 3,Phase 2 71486-22-1 60780 44424639
11
Irinotecan Approved, Investigational Phase 3,Phase 2,Phase 1 97682-44-5, 100286-90-6 60838
12
Lenograstim Approved, Investigational Phase 3,Phase 2,Phase 1 135968-09-1
13
Epirubicin Approved Phase 3,Phase 2 56420-45-2 41867
14
Everolimus Approved Phase 3,Phase 2 159351-69-6 6442177
15
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2 22916-47-8 4189
16
Sirolimus Approved, Investigational Phase 3,Phase 2 53123-88-9 5284616 6436030 46835353
17
Cyproheptadine Approved Phase 3 129-03-3 2913
18
Histamine Approved, Investigational Phase 3 75614-87-8, 51-45-6 774
19
Doxil Approved June 1999 Phase 3,Phase 2,Phase 1,Not Applicable 31703
20
Camptothecin Experimental Phase 3,Phase 2,Phase 1 7689-03-4
21 Alkylating Agents Phase 3,Phase 2,Phase 1,Not Applicable
22 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1,Not Applicable
23 Antibiotics, Antitubercular Phase 3,Phase 2,Phase 1,Not Applicable
24 Anti-Infective Agents Phase 3,Phase 2
25 Antimitotic Agents Phase 3,Phase 2,Phase 1,Not Applicable
26 Antineoplastic Agents, Alkylating Phase 3,Phase 2,Phase 1,Not Applicable
27 Antineoplastic Agents, Phytogenic Phase 3,Phase 2,Phase 1,Not Applicable
28 Antirheumatic Agents Phase 3,Phase 2,Phase 1,Not Applicable
29 Etoposide phosphate Phase 3,Phase 2,Phase 1,Not Applicable
30 Immunosuppressive Agents Phase 3,Phase 2,Phase 1,Not Applicable
31
Isophosphamide mustard Phase 3,Phase 2,Not Applicable 0
32 Nucleic Acid Synthesis Inhibitors Phase 3,Phase 2
33 topoisomerase I inhibitors Phase 3,Phase 2,Phase 1
34 Topoisomerase Inhibitors Phase 3,Phase 2,Phase 1,Not Applicable
35 Adjuvants, Immunologic Phase 3,Phase 2,Phase 1
36 Bone Density Conservation Agents Phase 3
37 Calcium, Dietary Phase 3
38 Antifungal Agents Phase 3,Phase 2
39 Dermatologic Agents Phase 3,Phase 2
40 Gastrointestinal Agents Phase 3,Phase 2
41 Anti-Allergic Agents Phase 3
42 Antipruritics Phase 3
43 Histamine Antagonists Phase 3
44 Histamine H1 Antagonists Phase 3
45
Histamine Phosphate Phase 3 51-74-1 65513
46 Neurotransmitter Agents Phase 3
47 Serotonin Agents Phase 3
48 Serotonin Antagonists Phase 3
49
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
50
Fludarabine Approved Phase 1, Phase 2,Phase 2 21679-14-1, 75607-67-9 30751

Interventional clinical trials:

(show top 50) (show all 69)
# Name Status NCT ID Phase Drugs
1 Combination Chemotherapy in Treating Young Patients With Nonmetastatic Rhabdomyosarcoma Unknown status NCT00379457 Phase 3 carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;ifosfamide;topotecan hydrochloride;vincristine sulfate;vinorelbine tartrate
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 Combination Chemotherapy With or Without Radiation Therapy in Treating Patients With Newly Diagnosed Rhabdomyosarcoma Completed NCT00002995 Phase 3 cyclophosphamide;vincristine sulfate
5 Surgery Followed by Chemotherapy in Treating Young Patients With Soft Tissue Sarcoma Completed NCT00002898 Phase 3 carboplatin;cyclophosphamide;epirubicin hydrochloride;etoposide;ifosfamide;vincristine sulfate
6 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
7 Combination Chemotherapy With or Without Temsirolimus in Treating Patients With Intermediate Risk Rhabdomyosarcoma Recruiting NCT02567435 Phase 3 Cyclophosphamide;Irinotecan Hydrochloride;Temsirolimus;Vincristine Sulfate
8 Vincristine, Dactinomycin, and Cyclophosphamide With or Without Radiation Therapy in Treating Patients With Newly Diagnosed Low-Risk Rhabdomyosarcoma Active, not recruiting NCT00075582 Phase 3 dactinomycin;cyclophosphamide;vincristine sulfate
9 Cyproheptadine in Preventing Weight Loss in Children Receiving Chemotherapy for Cancer Terminated NCT01132547 Phase 3 cyproheptadine hydrochloride
10 Vincristine, Dactinomycin, and Cyclophosphamide in Treating Patients With Embryonal Rhabdomyosarcoma Unknown status NCT00245089 Phase 2 cyclophosphamide;vincristine sulfate
11 Vincristine, Dactinomycin, and Cyclophosphamide With or Without Radiation Therapy in Treating Patients With Embryonal Rhabdomyosarcoma Unknown status NCT00245141 Phase 2 cyclophosphamide;vincristine sulfate
12 Therapy to Treat Ewing's Sarcoma, Rhabdomyosarcoma or Neuroblastoma Completed NCT00923351 Phase 1, Phase 2 Tumor Purged/CD25 Depleted Lymphocytes;rhIL-7
13 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
14 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
15 Ixabepilone in Treating Young Patients With Refractory Solid Tumors Completed NCT00331643 Phase 2 ixabepilone
16 Phase II Study of Imatinib Mesylate in Patients With Life Threatening Malignant Rare Diseases Completed NCT00154388 Phase 2 Imatinib mesylate
17 Combination Chemotherapy Plus Radiation Therapy in Treating Patients With Metastatic Rhabdomyosarcoma or Sarcoma Completed NCT00003955 Phase 2 cyclophosphamide;irinotecan hydrochloride;vincristine sulfate
18 Chemotherapy in Treating Children With Recurrent or Refractory Sarcomas Completed NCT00003745 Phase 2 topotecan hydrochloride
19 Imatinib Mesylate in Treating Patients With Advanced Soft Tissue Sarcoma or Bone Sarcoma Completed NCT00031915 Phase 2 imatinib mesylate
20 Combination Chemotherapy in Treating Children With Metastatic Rhabdomyosarcoma or Other Malignant Mesenchymal Tumors Completed NCT00025441 Phase 2 carboplatin;cyclophosphamide;doxorubicin hydrochloride;epirubicin hydrochloride;etoposide;ifosfamide;vincristine sulfate
21 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
22 Trabectedin in Treating Young Patients With Recurrent or Refractory Soft Tissue Sarcoma or Ewing's Family of Tumors Completed NCT00070109 Phase 2 trabectedin
23 Cixutumumab and Temsirolimus in Treating Younger Patients With Recurrent or Refractory Sarcoma Completed NCT01614795 Phase 2 Temsirolimus
24 Sorafenib Tosylate in Treating Younger Patients With Relapsed or Refractory Rhabdomyosarcoma, Wilms Tumor, Liver Cancer, or Thyroid Cancer Completed NCT01502410 Phase 2 sorafenib tosylate
25 Alisertib in Treating Young Patients With Recurrent or Refractory Solid Tumors or Leukemia Completed NCT01154816 Phase 2 Alisertib
26 Cixutumumab in Treating Patients With Relapsed or Refractory Solid Tumors Completed NCT00831844 Phase 2
27 Etanercept in Treating Young Patients With Idiopathic Pneumonia Syndrome After Undergoing a Donor Stem Cell Transplant Completed NCT00309907 Phase 2 methylprednisolone
28 Oxaliplatin in Treating Young Patients With Recurrent Solid Tumors That Have Not Responded to Previous Treatment Completed NCT00091182 Phase 2 oxaliplatin
29 Irinotecan in Treating Children With Refractory Solid Tumors Completed NCT00004078 Phase 2 irinotecan hydrochloride
30 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
31 Risk-Adapted Focal Proton Beam Radiation and/or Surgery in Patients With Low, Intermediate and High Risk Rhabdomyosarcoma Receiving Standard or Intensified Chemotherapy Recruiting NCT01871766 Phase 2 Vincristine;Dactinomycin;Cyclophosphamide;Bevacizumab;Sorafenib;Myeloid Growth Factor;Irinotecan;Ifosfamide;Etoposide;Etoposide Phosphate;Doxorubicin;Dexrazoxane;^1^1C-methionine
32 Proton RT for the Treatment of Pediatric Rhabdomyosarcoma Recruiting NCT00592592 Phase 2
33 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
34 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
35 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
36 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;Vemurafenib
37 Cabozantinib-S-Malate in Treating Younger Patients With Recurrent, Refractory, or Newly Diagnosed Sarcomas, Wilms Tumor, or Other Rare Tumors Recruiting NCT02867592 Phase 2 Cabozantinib S-malate
38 Stereotactic Body Radiotherapy (SBRT) for Pulmonary Metastases in Ewing Sarcoma, Rhabdomyosarcoma, and Wilms Tumors Recruiting NCT02581384 Phase 1, Phase 2
39 Irinotecan and Carboplatin as Upfront Window Therapy in Treating Patients With Newly Diagnosed Intermediate-Risk or High-Risk Rhabdomyosarcoma Active, not recruiting NCT00077285 Phase 2 carboplatin;cyclophosphamide;dexrazoxane hydrochloride;doxorubicin hydrochloride;etoposide;ifosfamide;irinotecan hydrochloride;vincristine sulfate
40 Imetelstat Sodium in Treating Younger Patients With Relapsed or Refractory Solid Tumors Withdrawn NCT02011126 Phase 2 imetelstat sodium
41 Chemotherapy Plus Peripheral Stem Cell Transplantation in Treating Infants With Malignant Brain or Spinal Cord Tumors Completed NCT00003141 Phase 1 carboplatin;cisplatin;cyclophosphamide;etoposide;thiotepa;vincristine sulfate
42 Cixutumumab and Doxorubicin Hydrochloride in Treating Patients With Unresectable, Locally Advanced, or Metastatic Soft Tissue Sarcoma Completed NCT00720174 Phase 1 Doxorubicin Hydrochloride
43 Oxaliplatin and Irinotecan in Treating Young Patients With Refractory Solid Tumors or Lymphomas Completed NCT00101270 Phase 1 irinotecan hydrochloride;oxaliplatin
44 Tanespimycin in Treating Young Patients With Recurrent or Refractory Leukemia or Solid Tumors Completed NCT00093821 Phase 1 tanespimycin
45 Erlotinib and Temozolomide in Treating Young Patients With Recurrent or Refractory Solid Tumors Completed NCT00077454 Phase 1 erlotinib hydrochloride;temozolomide
46 Flavopiridol in Treating Children With Relapsed or Refractory Solid Tumors or Lymphomas Completed NCT00012181 Phase 1 alvocidib
47 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
48 Study of Doxorubicin and Hyperthermic Intraperitoneal Chemotherapy (HIPEC) and Intraoperative Brachytherapy for Unresectable or Refractory Pelvic and Abdominal Rhabdomyosarcoma and Undifferentiated Sarcomas in Children Not yet recruiting NCT03111069 Phase 1 Doxorubicin
49 Studying Mechanisms of Radiation Therapy Resistance in Samples From Younger Patients With Rhabdomyosarcoma Completed NCT01626170
50 Studying Genes in Samples From Younger Patients With Rhabdomyosarcoma Completed NCT01585376

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:

41
Skeletal Muscle, Prostate, Bone, Cervix, Liver, Testes, Bone Marrow

Publications for Embryonal Rhabdomyosarcoma

Articles related to Embryonal Rhabdomyosarcoma:

(show top 50) (show all 505)
# Title Authors Year
1
Embryonal rhabdomyosarcoma of urinary bladder in an adult patient: an unusual manifestation. ( 29654103 )
2018
2
Giant intrascrotal embryonal rhabdomyosarcoma in an adult: a case report and review of theA literature. ( 29804543 )
2018
3
Small round cell myofibroblastoma of the oral cavity: A tumor mimicking embryonal rhabdomyosarcoma. ( 29487010 )
2018
4
DICER1 mutation-positive Giant Botryoid Fibroepithelial polyp of the urinary bladder mimicking embryonal rhabdomyosarcoma. ( 29883781 )
2018
5
Pediatric Robotic Prostatectomy and Pelvic Lymphadenectomy for Embryonal Rhabdomyosarcoma. ( 29702157 )
2018
6
Corrigendum: Ermoian RP, Breneman J, Walterhouse DO, etA al. 45A Gy is not sufficient radiotherapy dose for Group III orbital embryonal rhabdomyosarcoma after less than complete response to 12A weeks of ARST0331 chemotherapy. Pediatr Blood Cancer. 2017;64:E26540. https://doi.org/10.1002/pbc.26540. ( 29679530 )
2018
7
Prosthetic rehabilitation for a patient treated for embryonal rhabdomyosarcoma. ( 29551375 )
2018
8
Congenital embryonal rhabdomyosarcoma caused by heterozygous concomitant PTCH1 and PTCH2 germline mutations. ( 29230040 )
2018
9
Massive Embryonal Rhabdomyosarcoma of the Hand in an Infant With Metastasis at Birth: Management Dilemma. ( 28718313 )
2017
10
A Novel Notch-YAP Circuit Drives Stemness and Tumorigenesis in Embryonal Rhabdomyosarcoma. ( 28923841 )
2017
11
A rare case of embryonal rhabdomyosarcoma of the parapharyngeal space. ( 28530261 )
2017
12
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
13
The NOTCH1/SNAIL1/MEF2C Pathway Regulates Growth and Self-Renewal in Embryonal Rhabdomyosarcoma. ( 28614716 )
2017
14
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
15
Clinicopathological analysis of concomitant hepatic embryonal rhabdomyosarcoma and hepatocellular carcinoma. ( 28554759 )
2017
16
A case report of concurrent embryonal rhabdomyosarcoma and diffuse large B-cell lymphoma in an adult without identifiable cancer predisposition. ( 28194276 )
2017
17
Embryonal Rhabdomyosarcoma of the Cervix: A Rare Disease at an Uncommon Age. ( 29375950 )
2017
18
Congenital embryonal rhabdomyosarcoma; multiple lesions. ( 28103501 )
2017
19
Embryonal rhabdomyosarcoma in the maxillary sinus with orbital involvement in a pediatric patient: Case report. ( 29291204 )
2017
20
Embryonal rhabdomyosarcoma of the biliary tree: A rare cause of obstructive jaundice in children which can mimic choledochal cysts. ( 29089679 )
2017
21
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
22
When Chemotherapy Is Not Enough-Management of Prostatic Embryonal Rhabdomyosarcoma in an Infant. ( 29155187 )
2017
23
NELL1, whose high expression correlates with negative outcomes, has different methylation patterns in alveolar and embryonal rhabdomyosarcoma. ( 28380437 )
2017
24
Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma. ( 28524158 )
2017
25
Pediatric Anaplastic Embryonal Rhabdomyosarcoma: Targeted Therapy Guided by Genetic Analysis and a Patient-Derived Xenograft Study. ( 29376028 )
2017
26
Mandibular embryonal rhabdomyosarcoma with cartilaginous metaplasia: report of a case and review of literature. ( 29029988 )
2017
27
Stage 1 embryonal rhabdomyosarcoma of the female genital tract: a retrospective clinical study of nine cases. ( 28173865 )
2017
28
Cytotoxicity of Zardaverine in Embryonal Rhabdomyosarcoma from a Costello Syndrome Patient. ( 28421158 )
2017
29
12-O-tetradecanoylphorbol-13-acetate and EZH2 inhibition: A novel approach for promoting myogenic differentiation in embryonal rhabdomyosarcoma cells. ( 28722764 )
2017
30
Frequent HRAS Mutations in Malignant Ectomesenchymoma: Overlapping Genetic Abnormalities With Embryonal Rhabdomyosarcoma. ( 26872011 )
2016
31
Survivin selective inhibitor YM155 promotes cisplatina89induced apoptosis in embryonal rhabdomyosarcoma. ( 26983495 )
2016
32
Embryonal rhabdomyosarcoma arising from the uterine corpus in a postmenopausal female: a surgical case challenging the genuine diagnosis on a cytology specimen. ( 26755204 )
2016
33
Embryonal rhabdomyosarcoma in a patient with a heterozygous frameshift variant in the DICER1 gene and additional manifestations of the DICER1 syndrome. ( 27896549 )
2016
34
Spindle cell embryonal rhabdomyosarcoma of the prostate in an adult patient - case report and review of clinicopathological features. ( 27357857 )
2016
35
Embryonal Rhabdomyosarcoma of the Oral Cavity. ( 27743320 )
2016
36
Spindle Cell Variant of Embryonal Rhabdomyosarcoma: A Rare Entity with Diagnostic Challenges. ( 27656457 )
2016
37
Embryonal Rhabdomyosarcoma of the Oesophagus in a Young Dog. ( 27865423 )
2016
38
Myxoma virus therapy for human embryonal rhabdomyosarcoma in a nude mouse model. ( 27579297 )
2016
39
Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma. ( 27589201 )
2016
40
The Hippo effector TAZ (WWTR1) transforms myoblasts and its abundance is associated with reduced survival in embryonal rhabdomyosarcoma. ( 27184927 )
2016
41
Primary embryonal rhabdomyosarcoma of the liver. ( 28039349 )
2016
42
Embryonal rhabdomyosarcoma in a child exposed to chemotherapy in utero: a mere coincidence? ( 27802874 )
2016
43
c-Myc Sustains Transformed Phenotype and Promotes Radioresistance of Embryonal Rhabdomyosarcoma Cell Lines. ( 27104757 )
2016
44
Embryonal rhabdomyosarcoma: A rare oral tumor. ( 27721622 )
2016
45
DNMT3B in vitro knocking-down is able to reverse embryonal rhabdomyosarcoma cell phenotype through inhibition of proliferation and induction of myogenic differentiation. ( 27764816 )
2016
46
Embryonal Rhabdomyosarcoma of the Cervix in Young Women. ( 27003182 )
2016
47
Key role of MEK/ERK pathway in sustaining tumorigenicity and in vitro radioresistance of embryonal rhabdomyosarcoma stem-like cell population. ( 26897742 )
2016
48
Embryonal rhabdomyosarcoma of the perineum in an adult: a case report. ( 27998313 )
2016
49
Embryonal rhabdomyosarcoma of the epididymis presenting as epididymitis: A case report. ( 27073679 )
2016
50
Fertility-sparing surgery for the management of young women with embryonal rhabdomyosarcoma of the cervix: A case series. ( 27642626 )
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

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 21
2 COSM44720 TP53 soft tissue,vagina,rhabdomyosarcoma,embryonal c.961A>T p.K321* 17:7673567-7673567 21
3 COSM13016 PTPN11 soft tissue,bladder,rhabdomyosarcoma,embryonal c.226G>C p.E76Q 12:112450406-112450406 21
4 COSM580 NRAS soft tissue,vagina,rhabdomyosarcoma,embryonal c.181C>A p.Q61K 1:114713909-114713909 21
5 COSM532 KRAS soft tissue,bladder,rhabdomyosarcoma,embryonal c.38G>A p.G13D 12:25245347-25245347 21
6 COSM6930430 KMT2D soft tissue,vagina,rhabdomyosarcoma,embryonal c.1291G>T p.E431* 12:49052392-49052392 21
7 COSM99615 soft tissue,vagina,rhabdomyosarcoma,embryonal c.637C>T p.R213* 17:7674894-7674894 21
8 COSM3378350 soft tissue,vagina,rhabdomyosarcoma,embryonal c.637C>T p.R213* 17:7674894-7674894 21
9 COSM6930429 soft tissue,vagina,rhabdomyosarcoma,embryonal c.1291G>T p.E431* 12:49052392-49052392 21
10 COSM99616 soft tissue,vagina,rhabdomyosarcoma,embryonal c.241C>T p.R81* 17:7674894-7674894 21
11 COSM3732985 soft tissue,vagina,rhabdomyosarcoma,embryonal c.961A>T p.K321* 17:7673567-7673567 21
12 COSM99618 soft tissue,vagina,rhabdomyosarcoma,embryonal c.637C>T p.R213* 17:7674894-7674894 21
13 COSM3732987 soft tissue,vagina,rhabdomyosarcoma,embryonal c.961A>T p.K321* 17:7673567-7673567 21
14 COSM3732986 soft tissue,vagina,rhabdomyosarcoma,embryonal c.961A>T p.K321* 17:7673567-7673567 21
15 COSM99617 soft tissue,vagina,rhabdomyosarcoma,embryonal c.358C>T p.R120* 17:7674894-7674894 21
16 COSM1638393 soft tissue,vagina,rhabdomyosarcoma,embryonal c.637C>T p.R213* 17:7674894-7674894 21

Copy number variations for Embryonal Rhabdomyosarcoma from CNVD:

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# 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 9.4 CDK4 DES DICER1 EWSR1 FOXO1 HRAS

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 regulation of gene expression GO:0010468 9.71 CDK4 IGF2 MYOD1 PAX7
2 glucose homeostasis GO:0042593 9.67 FOXO1 IGF2 PTCH1
3 positive regulation of transcription, DNA-templated GO:0045893 9.63 FOXO1 MYCN MYOD1 MYOG PAX3 PTCH1
4 skeletal muscle fiber development GO:0048741 9.59 MYOD1 MYOG
5 positive regulation of muscle cell differentiation GO:0051149 9.58 MYOD1 MYOG
6 positive regulation of myoblast differentiation GO:0045663 9.58 MYOD1 MYOG
7 skeletal muscle tissue regeneration GO:0043403 9.57 MYOG PAX7
8 myoblast differentiation GO:0045445 9.56 MYOD1 MYOG
9 animal organ morphogenesis GO:0009887 9.56 HRAS IGF2 PAX3 PTCH1
10 positive regulation of myoblast fusion GO:1901741 9.55 MYOD1 MYOG
11 striated muscle cell differentiation GO:0051146 9.54 IGF2 MYOD1
12 dorsal/ventral neural tube patterning GO:0021904 9.51 PAX7 PTCH1
13 skeletal muscle tissue development GO:0007519 9.5 MYOD1 MYOG PAX7
14 myotube differentiation GO:0014902 9.46 MYOD1 MYOG
15 positive regulation of skeletal muscle fiber development GO:0048743 9.43 MYOD1 MYOG
16 muscle cell fate commitment GO:0042693 9.37 MYOD1 MYOG
17 muscle organ development GO:0007517 9.26 MYOD1 MYOG PAX3 PAX7
18 positive regulation of transcription by RNA polymerase II GO:0045944 9.23 FOXO1 HRAS IGF2 MYCN MYOD1 MYOG
19 regulation of transcription, DNA-templated GO:0006355 10.08 EWSR1 FOXO1 IGF2 MYCN MYOD1 MYOG
20 multicellular organism development GO:0007275 10 CDK4 IGF2 MYOD1 MYOG PAX3 PAX7

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.73 FOXO1 MYCN MYOD1 MYOG PAX3 PAX7
2 DNA binding GO:0003677 9.7 DICER1 FOXO1 MYCN MYOD1 MYOG PAX3
3 sequence-specific DNA binding GO:0043565 9.35 FOXO1 MYOD1 MYOG PAX3 PAX7
4 DNA binding transcription factor activity GO:0003700 9.1 FOXO1 MYCN MYOD1 MYOG PAX3 PAX7

Sources for Embryonal Rhabdomyosarcoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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