ERMS
MCID: EMB005
MIFTS: 54

Embryonal Rhabdomyosarcoma (ERMS) malady

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

Aliases & Classifications for Embryonal Rhabdomyosarcoma

Aliases & Descriptions for Embryonal Rhabdomyosarcoma:

Name: Embryonal Rhabdomyosarcoma 12 50 14
Rhabdomyosarcoma Embryonal 50 29 52
Rhabdomyosarcoma, Embryonal 42 69
Botryoid Rhabdomyosarcoma 50 69
Spindle Cell Rhabdomyosarcomas 50
Erms 50

Classifications:



External Ids:

Disease Ontology 12 DOID:3246
MeSH 42 D018233
NCIt 47 C8971
SNOMED-CT 64 14269005 404051002
UMLS 69 C0206656

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 rhabdomyosarcoma, embryonal, 2 and spindle cell rhabdomyosarcoma. An important gene associated with Embryonal Rhabdomyosarcoma is PAX3 (Paired Box 3), and among its related pathways/superpathways are Pathways in cancer and Wnt Signaling Pathways: beta-Catenin-independent Wnt/Ca2+ Signaling and Other Non-canonical Wnt Signaling Pathways. The drugs Carboplatin and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, prostate and cervix, and related phenotypes are behavior/neurological and growth/size/body region

Wikipedia : 71 Embryonal rhabdomyosarcoma (ERMS) is a rare histological form of cancer of connective tissue wherein the... more...

Related Diseases for Embryonal Rhabdomyosarcoma

Diseases in the Embryonal Rhabdomyosarcoma family:

Rhabdomyosarcoma, Embryonal, 2

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

(show top 50) (show all 147)
id Related Disease Score Top Affiliating Genes
1 rhabdomyosarcoma, embryonal, 2 33.5 MB MYCN TP53
2 spindle cell rhabdomyosarcoma 31.9 DES HRAS MB MYOD1 MYOG PAX3
3 mixed type rhabdomyosarcoma 31.6 DES MB MYOD1 MYOG
4 embryonal extrahepatic bile duct rhabdomyosarcoma 29.4 CDK4 DES EWSR1 GLI1 IGF2 MB
5 parameningeal embryonal rhabdomyosarcoma 12.3
6 prostate embryonal rhabdomyosarcoma 12.2
7 orbit embryonal rhabdomyosarcoma 12.2
8 vulvar childhood botryoid-type embryonal rhabdomyosarcoma 12.0
9 rhabdomyosarcoma 11.5
10 botryoid rhabdomyosarcoma 11.5
11 rhabdomyosarcoma, somatic 11.1
12 childhood botryoid rhabdomyosarcoma 10.9
13 childhood vagina botryoid rhabdomyosarcoma 10.9
14 prostatitis 10.4
15 glaucoma iridogoniodysgenesia 10.3 DES MB
16 subacute leukemia 10.3 MB MYOG
17 sarcoma 10.3
18 ectopic pregnancy 10.3 DES MYOD1
19 heart leiomyosarcoma 10.3 DES MYOG
20 breast rhabdomyosarcoma 10.3 DES PAX3
21 intrahepatic bile duct cystadenoma 10.2 DES MB MYOD1
22 transitional cell carcinoma 10.2 DES MB MYOD1
23 ovarian cystadenoma 10.2 DES MB MYOD1
24 advanced sleep-phase syndrome, familial, 2 10.2 DES MB MYOD1
25 reticulohistiocytic granuloma 10.2 DES MB
26 testis sarcoma 10.2 DES MYOD1 MYOG
27 myoblastoma 10.2 MYOD1 PAX3 PAX7
28 extracutaneous mastocytoma 10.2 DES MB MYCN
29 functionless pituitary adenoma 10.2 MB TP53
30 cardiac tamponade 10.2 DES MYOD1
31 spondylarthropathy 10.2 HRAS TP53
32 spinal chordoma 10.2 EWSR1 MB
33 lung benign neoplasm 10.1 DES IGF2 MYOD1
34 bone deterioration disease 10.1 DES MB TP53
35 endodermal sinus tumor 10.1 MB MYOD1 TP53
36 juvenile xanthogranuloma 10.1 DES EWSR1 MYOD1
37 cervicitis 10.1
38 extraosseous ewing's sarcoma 10.1 DES MB TP53
39 gall bladder carcinoma in situ 10.1 EWSR1 MYCN
40 arthus reaction 10.1 HRAS MB TP53
41 brain stem infarction 10.1 HRAS MB MYOD1 MYOG
42 mycobacterium abscessus 10.1
43 choriocarcinoma of ovary 10.1 MB TP53
44 osteomyelitis 10.1 CDK4 DES
45 acantholytic squamous cell skin carcinoma 10.1 IGF2 MB TP53
46 camptomelic syndrome long limb type 10.1 PTCH1 TP53
47 verruciform xanthoma of skin 10.0 DES MB MYOD1 TP53
48 bronchitis 10.0 PTCH1 TP53
49 paroxysmal nocturnal hemoglobinuria 10.0 GLI1 HRAS TP53
50 bile duct rhabdomyosarcoma 10.0 DES MB MYOD1 PAX3 PAX7

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



Diseases related to Embryonal Rhabdomyosarcoma

Symptoms & Phenotypes for Embryonal Rhabdomyosarcoma

MGI Mouse Phenotypes related to Embryonal Rhabdomyosarcoma:

44 (show all 22)
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.35 PAX7 PTCH1 TP53 CDK4 DES GLI1
2 growth/size/body region MP:0005378 10.33 CDK4 GLI1 HRAS IGF2 MB MYCN
3 mortality/aging MP:0010768 10.31 IGF2 MB MYCN MYOD1 MYOG PAX3
4 cardiovascular system MP:0005385 10.3 CDK4 DES HRAS IGF2 MB MYCN
5 cellular MP:0005384 10.29 CDK4 DES GLI1 IGF2 MB MYCN
6 homeostasis/metabolism MP:0005376 10.28 TP53 CDK4 DES HRAS IGF2 MB
7 embryo MP:0005380 10.27 CDK4 GLI1 IGF2 MB MYCN MYOG
8 muscle MP:0005369 10.22 MYOG PAX3 PAX7 PTCH1 TP53 CDK4
9 craniofacial MP:0005382 10.19 GLI1 HRAS IGF2 MYCN PAX3 PAX7
10 digestive/alimentary MP:0005381 10.18 CDK4 GLI1 IGF2 MYCN PAX3 PAX7
11 endocrine/exocrine gland MP:0005379 10.16 CDK4 GLI1 HRAS IGF2 PAX3 PAX7
12 no phenotypic analysis MP:0003012 10.1 GLI1 HRAS IGF2 MYCN MYOD1 MYOG
13 nervous system MP:0003631 10.09 PAX7 PTCH1 TP53 CDK4 GLI1 HRAS
14 integument MP:0010771 10.07 CDK4 HRAS IGF2 MYOG PAX3 PTCH1
15 normal MP:0002873 10.07 MYOD1 MYOG PAX3 PAX7 PTCH1 TP53
16 neoplasm MP:0002006 10.06 CDK4 GLI1 HRAS MYOD1 PAX3 PAX7
17 limbs/digits/tail MP:0005371 9.99 GLI1 IGF2 MYCN PAX3 PTCH1 TP53
18 renal/urinary system MP:0005367 9.92 CDK4 GLI1 HRAS IGF2 MYCN PAX3
19 respiratory system MP:0005388 9.9 GLI1 HRAS IGF2 MB MYCN MYOD1
20 reproductive system MP:0005389 9.8 CDK4 GLI1 IGF2 MYCN MYOD1 PTCH1
21 skeleton MP:0005390 9.61 HRAS IGF2 MYCN MYOD1 MYOG PAX3
22 vision/eye MP:0005391 9.17 CDK4 IGF2 MYCN PAX3 PAX7 PTCH1

Drugs & Therapeutics for Embryonal Rhabdomyosarcoma

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

(show top 50) (show all 233)
id 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,Early Phase 1 50-18-0, 6055-19-2 2907
3
Dactinomycin Approved Phase 3,Phase 2 50-76-0 2019 457193
4
Doxorubicin Approved, Investigational Phase 3,Phase 2,Phase 1 23214-92-8 31703
5
Etoposide Approved Phase 3,Phase 2,Phase 1 33419-42-0 36462
6
Ifosfamide Approved Phase 3,Phase 2,Phase 1 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 2068-78-2, 57-22-7 5978
10
Vinorelbine Approved, Investigational Phase 3,Phase 2 71486-22-1 60780 44424639
11
Lenograstim Approved Phase 3,Phase 2,Phase 1 135968-09-1
12
Epirubicin Approved Phase 3,Phase 2 56420-45-2 41867
13
Amphotericin B Approved, Investigational Phase 3 1397-89-3 14956 5280965
14
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1 22916-47-8 4189
15
Palivizumab Approved, Investigational Phase 3 188039-54-5
16
Ribavirin Approved Phase 3 36791-04-5 37542
17
Captopril Approved Phase 3 62571-86-2 44093
18
Fluconazole Approved Phase 3 86386-73-4 3365
19
Itraconazole Approved, Investigational Phase 3 84625-61-6 55283
20
Mechlorethamine Approved Phase 3,Phase 2,Phase 1 51-75-2 4033
21
Irinotecan Approved, Investigational Phase 3,Phase 2,Phase 1 97682-44-5, 100286-90-6 60838
22
Everolimus Approved Phase 3,Phase 2,Phase 1 159351-69-6 6442177
23
Sirolimus Approved, Investigational Phase 3,Phase 2,Phase 1 53123-88-9 5284616 6436030 46835353
24
Cyproheptadine Approved Phase 3 129-03-3 2913
25
Histamine Approved, Investigational Phase 3 75614-87-8, 51-45-6 774
26
Doxil Approved June 1999 Phase 3,Phase 2,Phase 1 31703
27
Camptothecin Experimental Phase 3,Phase 2,Phase 1 7689-03-4
28 Alkylating Agents Phase 3,Phase 2,Phase 1,Early Phase 1
29 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1,Early Phase 1
30 Antibiotics, Antitubercular Phase 3,Phase 2,Phase 1
31 Anti-Infective Agents Phase 3,Phase 2,Phase 1,Early Phase 1
32 Antimitotic Agents Phase 3,Phase 2,Phase 1
33 Antineoplastic Agents, Alkylating Phase 3,Phase 2,Phase 1,Early Phase 1
34 Antineoplastic Agents, Phytogenic Phase 3,Phase 2,Phase 1
35 Antirheumatic Agents Phase 3,Phase 2,Phase 1,Early Phase 1
36 Etoposide phosphate Phase 3,Phase 2,Phase 1
37 Immunosuppressive Agents Phase 3,Phase 2,Phase 1,Early Phase 1
38 Isophosphamide mustard Phase 3,Phase 2,Phase 1
39 Nucleic Acid Synthesis Inhibitors Phase 3,Phase 2,Phase 1
40 topoisomerase I inhibitors Phase 3,Phase 2,Phase 1
41 Topoisomerase Inhibitors Phase 3,Phase 2,Phase 1
42 Adjuvants, Immunologic Phase 3,Phase 2,Phase 1
43 Antimetabolites Phase 3,Phase 2,Phase 1
44 Hormone Antagonists Phase 3,Phase 2,Phase 1
45 Hormones Phase 3,Phase 2,Phase 1
46 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2,Phase 1
47 Gastrointestinal Agents Phase 3,Phase 2,Phase 1
48 Antifungal Agents Phase 3,Phase 2,Phase 1
49 Antiparasitic Agents Phase 3
50 Antiprotozoal Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 152)
id Name Status NCT ID Phase
1 Combination Chemotherapy in Treating Young Patients With Nonmetastatic Rhabdomyosarcoma Unknown status NCT00379457 Phase 3
2 Combination Chemotherapy in Treating Patients With Previously Untreated Rhabdomyosarcoma Completed NCT00003958 Phase 3
3 Combination Chemotherapy With or Without Radiation Therapy in Treating Patients With Newly Diagnosed Rhabdomyosarcoma Completed NCT00002995 Phase 3
4 Surgery Followed by Chemotherapy in Treating Young Patients With Soft Tissue Sarcoma Completed NCT00002898 Phase 3
5 Liposomal Amphotericin B in Treating Granulocytopenia and Persistent Unexplained Fever in Cancer Patients Completed NCT00003938 Phase 3
6 Ribavirin With or Without Monoclonal Antibody Therapy in Treating Patients Who Develop RSV Pneumonia Following Peripheral Stem Cell Transplantation Completed NCT00014391 Phase 3
7 Captopril in Treating Patients Undergoing Bone Marrow or Stem Cell Transplantation Completed NCT00004230 Phase 3
8 Itraconazole Compared With Fluconazole to Prevent Infections in Patients Undergoing Peripheral Stem Cell or Bone Marrow Transplantation Completed NCT00003883 Phase 3
9 Supersaturated Calcium Phosphate Rinse in Preventing Oral Mucositis in Young Patients Undergoing Autologous or Donor Stem Cell Transplant Completed NCT01305200 Phase 3
10 A Web-Based Stem Cell Transplant Support System or Standard Care in Young Patients Undergoing Stem Cell Transplant and Their Families Completed NCT00782145 Phase 3
11 Surgery With or Without Chemotherapy in Treating Patients With Soft Tissue Sarcoma Completed NCT00002641 Phase 3
12 Combination Chemotherapy and Radiation Therapy in Treating Patients With Newly Diagnosed Rhabdomyosarcoma Active, not recruiting NCT00354835 Phase 3
13 Vincristine, Dactinomycin, and Cyclophosphamide With or Without Radiation Therapy in Treating Patients With Newly Diagnosed Low-Risk Rhabdomyosarcoma Active, not recruiting NCT00075582 Phase 3
14 Combination Chemotherapy With or Without Temsirolimus in Treating Patients With Intermediate Risk Rhabdomyosarcoma Suspended NCT02567435 Phase 3
15 Cyproheptadine in Preventing Weight Loss in Children Receiving Chemotherapy for Cancer Terminated NCT01132547 Phase 3
16 Vincristine, Dactinomycin, and Cyclophosphamide in Treating Patients With Embryonal Rhabdomyosarcoma Unknown status NCT00245089 Phase 2
17 Vincristine, Dactinomycin, and Cyclophosphamide With or Without Radiation Therapy in Treating Patients With Embryonal Rhabdomyosarcoma Unknown status NCT00245141 Phase 2
18 Study of Vinorelbine and Cyclofosfamide Among Patients With Refractory Tumours or in Relapse Unknown status NCT00180947 Phase 2
19 Umbilical Cord Blood for Stem Cell Transplantation in Treating Young Patients With Malignant or Nonmalignant Diseases Unknown status NCT00084695 Phase 2
20 Light-Emitting Diode Therapy in Preventing Mucositis in Children Receiving Chemotherapy With or Without Radiation Therapy Before Bone Marrow Transplantation Unknown status NCT00036712 Phase 2
21 Temozolomide, Cixutumumab, and Combination Chemotherapy in Treating Patients With Metastatic Rhabdomyosarcoma Completed NCT01055314 Phase 2
22 Phase II Study of Imatinib Mesylate in Patients With Life Threatening Malignant Rare Diseases Completed NCT00154388 Phase 2
23 Comparison of Chemotherapy Regimens in Treating Children With Relapsed or Progressive Rhabdomyosarcoma Completed NCT00025363 Phase 2
24 Vinorelbine Tartrate and Cyclophosphamide in Combination With Bevacizumab or Temsirolimus in Treating Patients With Recurrent or Refractory Rhabdomyosarcoma Completed NCT01222715 Phase 2
25 Combination Chemotherapy in Treating Children With Metastatic Rhabdomyosarcoma or Other Malignant Mesenchymal Tumors Completed NCT00025441 Phase 2
26 Combination Chemotherapy Plus Radiation Therapy in Treating Patients With Metastatic Rhabdomyosarcoma or Sarcoma Completed NCT00003955 Phase 2
27 Trabectedin in Treating Young Patients With Recurrent or Refractory Soft Tissue Sarcoma or Ewing's Family of Tumors Completed NCT00070109 Phase 2
28 Sorafenib Tosylate in Treating Younger Patients With Relapsed or Refractory Rhabdomyosarcoma, Wilms Tumor, Liver Cancer, or Thyroid Cancer Completed NCT01502410 Phase 2
29 Ixabepilone in Treating Young Patients With Refractory Solid Tumors Completed NCT00331643 Phase 2
30 New Therapeutic Strategies for Patients With Ewing's Sarcoma Family of Tumors, High Risk Rhabdomyosarcoma, and Neuroblastoma Completed NCT00001335 Phase 2
31 Cixutumumab in Treating Patients With Relapsed or Refractory Solid Tumors Completed NCT00831844 Phase 2
32 Interleukin-11 Plus Filgrastim Prior to Peripheral Stem Cell Transplantation in Patients With Non-Hodgkin's Lymphoma, Hodgkin's Disease, Breast Cancer, or Other Solid Tumors Completed NCT00004157 Phase 2
33 Biological Therapy Following Chemotherapy and Peripheral Stem Cell Transplantation in Treating Patients With Cancer Completed NCT00003408 Phase 2
34 Lymphocyte Infusion in Treating Patients With Relapsed Cancer After Bone Marrow or Peripheral Stem Cell Transplantation Completed NCT00003887 Phase 2
35 A Five-Tier, Open-Label Study of IMC-A12 in Advanced Sarcoma Completed NCT00668148 Phase 2
36 Recombinant Human Thrombopoietin in Children Receiving Ifosfamide, Carboplatin, and Etoposide Chemotherapy Completed NCT00187109 Phase 1, Phase 2
37 Immunotherapy in Treating Patients Who Are Undergoing Bone Marrow or Peripheral Stem Cell Transplantation Completed NCT00002673 Phase 2
38 A Study of Pemetrexed in Children With Recurrent Cancer Completed NCT00520936 Phase 2
39 Etanercept in Treating Young Patients With Idiopathic Pneumonia Syndrome After Undergoing a Donor Stem Cell Transplant Completed NCT00309907 Phase 2
40 Imatinib Mesylate in Treating Patients With Advanced Soft Tissue Sarcoma or Bone Sarcoma Completed NCT00031915 Phase 2
41 Irinotecan in Treating Children With Refractory Solid Tumors Completed NCT00004078 Phase 2
42 Chemotherapy in Treating Children With Recurrent or Refractory Sarcomas Completed NCT00003745 Phase 2
43 Rebeccamycin Analogue in Treating Children With Solid Tumors or Non-Hodgkin's Lymphoma Completed NCT00006102 Phase 2
44 Oxaliplatin in Treating Young Patients With Recurrent Solid Tumors That Have Not Responded to Previous Treatment Completed NCT00091182 Phase 2
45 A Phase I Dose Finding and Safety Study of Oral LDE225 in Children and a Phase II Portion to Assess Preliminary Efficacy in Recurrent or Refractory MB Completed NCT01125800 Phase 1, Phase 2
46 NK DLI in Patients After Human Leukocyte Antigen (HLA)-Haploidentical Hematopoietic Stem Cell Transplantation (HSCT) Completed NCT01386619 Phase 1, Phase 2
47 Arsenic Trioxide in Treating Patients With Advanced Neuroblastoma or Other Childhood Solid Tumors Completed NCT00024258 Phase 2
48 Combination Chemotherapy Followed by Bone Marrow Transplantation in Treating Patients With Rare Cancer Completed NCT00002515 Phase 2
49 Temozolomide Plus Peripheral Stem Cell Transplantation in Treating Children With Newly Diagnosed Malignant Glioma or Recurrent CNS or Other Solid Tumors Completed NCT00005952 Phase 1, Phase 2
50 Depsipeptide (Romidepsin) in Treating Patients With Metastatic or Unresectable Soft Tissue Sarcoma Completed NCT00112463 Phase 2

Search NIH Clinical Center for Embryonal Rhabdomyosarcoma

Cochrane evidence based reviews: rhabdomyosarcoma, embryonal

Genetic Tests for Embryonal Rhabdomyosarcoma

Genetic tests related to Embryonal Rhabdomyosarcoma:

id Genetic test Affiliating Genes
1 Embryonal Rhabdomyosarcoma 29

Anatomical Context for Embryonal Rhabdomyosarcoma

MalaCards organs/tissues related to Embryonal Rhabdomyosarcoma:

39
Skeletal Muscle, Prostate, Cervix, Breast, Bone, Liver, Tongue

Publications for Embryonal Rhabdomyosarcoma

Articles related to Embryonal Rhabdomyosarcoma:

(show top 50) (show all 477)
id Title Authors Year
1
Cytotoxicity of Zardaverine in Embryonal Rhabdomyosarcoma from a Costello Syndrome Patient. ( 28421158 )
2017
2
Embryonal rhabdomyosarcoma of the epididymis presenting as epididymitis: A case report. ( 27073679 )
2016
3
c-Myc Sustains Transformed Phenotype and Promotes Radioresistance of Embryonal Rhabdomyosarcoma Cell Lines. ( 27104757 )
2016
4
Embryonal rhabdomyosarcoma: A rare oral tumor. ( 27721622 )
2016
5
Primary embryonal rhabdomyosarcoma of the liver. ( 28039349 )
2016
6
Embryonal rhabdomyosarcoma in a patient with a heterozygous frameshift variant in the DICER1 gene and additional manifestations of the DICER1 syndrome. ( 27896549 )
2016
7
Myxoma virus therapy for human embryonal rhabdomyosarcoma in a nude mouse model. ( 27579297 )
2016
8
Key role of MEK/ERK pathway in sustaining tumorigenicity and in vitro radioresistance of embryonal rhabdomyosarcoma stem-like cell population. ( 26897742 )
2016
9
Embryonal rhabdomyosarcoma in a child exposed to chemotherapy in utero: a mere coincidence? ( 27802874 )
2016
10
Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma. ( 27589201 )
2016
11
Embryonal rhabdomyosarcoma of the perineum in an adult: a case report. ( 27998313 )
2016
12
Embryonal Rhabdomyosarcoma of the Cervix in Young Women. ( 27003182 )
2016
13
Survivin selective inhibitor YM155 promotes cisplatina89induced apoptosis in embryonal rhabdomyosarcoma. ( 26983495 )
2016
14
Embryonal Rhabdomyosarcoma of the Oesophagus in a Young Dog. ( 27865423 )
2016
15
Embryonal Rhabdomyosarcoma of the Oral Cavity. ( 27743320 )
2016
16
The Hippo effector TAZ (WWTR1) transforms myoblasts and its abundance is associated with reduced survival in embryonal rhabdomyosarcoma. ( 27184927 )
2016
17
Spindle Cell Variant of Embryonal Rhabdomyosarcoma: A Rare Entity with Diagnostic Challenges. ( 27656457 )
2016
18
Fertility-sparing surgery for the management of young women with embryonal rhabdomyosarcoma of the cervix: A case series. ( 27642626 )
2016
19
Frequent HRAS Mutations in Malignant Ectomesenchymoma: Overlapping Genetic Abnormalities With Embryonal Rhabdomyosarcoma. ( 26872011 )
2016
20
Embryonal rhabdomyosarcoma arising from the uterine corpus in a postmenopausal female: a surgical case challenging the genuine diagnosis on a cytology specimen. ( 26755204 )
2016
21
DNMT3B in vitro knocking-down is able to reverse embryonal rhabdomyosarcoma cell phenotype through inhibition of proliferation and induction of myogenic differentiation. ( 27764816 )
2016
22
Spindle cell embryonal rhabdomyosarcoma of the prostate in an adult patient - case report and review of clinicopathological features. ( 27357857 )
2016
23
Embryonal Rhabdomyosarcoma (RMS) of Retroperitoneum in Young Child. ( 25964885 )
2015
24
Dual phosphatidylinositol 3-kinase/mammalian target of rapamycin inhibitor NVP-BEZ235 synergizes with chloroquine to induce apoptosis in embryonal rhabdomyosarcoma. ( 25637161 )
2015
25
Failed organ preservation strategy for adult laryngeal embryonal rhabdomyosarcoma. ( 25456167 )
2015
26
Embryonal rhabdomyosarcoma of the adult urinary bladder: a rare case report of misclassification as inflammatory myofibroblastic tumor. ( 25737794 )
2015
27
A Case of Embryonal Rhabdomyosarcoma Presenting as a Lobulated Protrusion From the UrethralA Meatus at Birth. ( 26166669 )
2015
28
Adipocyte-Like Differentiation in a Posttreatment Embryonal Rhabdomyosarcoma. ( 26783483 )
2015
29
Tumour volume reduction after neoadjuvant chemotherapy impacts outcome in localised embryonal rhabdomyosarcoma. ( 25263634 )
2015
30
PEComa of the terminal ileum mesentery as a secondary tumour in an adult survivor of embryonal rhabdomyosarcoma. ( 26628881 )
2015
31
MicroRNA-101 is repressed by EZH2 and its restoration inhibits tumorigenic features in embryonal rhabdomyosarcoma. ( 26251675 )
2015
32
Adult-Onset Cervical Embryonal Rhabdomyosarcoma and DICER1 Mutations. ( 26461232 )
2015
33
Metastasis to bilateral breasts from maxillary embryonal rhabdomyosarcoma demonstrated on F-18 FDG PET/CECT. ( 26853388 )
2015
34
Histone Deacetylase Inhibitors Antagonize Distinct Pathways to Suppress Tumorigenesis of Embryonal Rhabdomyosarcoma. ( 26636678 )
2015
35
Targeting hedgehog signaling reduces self-renewal in embryonal rhabdomyosarcoma. ( 26189795 )
2015
36
Decoding the 'embryonic' nature of embryonal rhabdomyosarcoma. ( 25740270 )
2015
37
Aldehyde Dehydrogenase 1 (ALDH1) Is a Potential Marker for Cancer Stem Cells in Embryonal Rhabdomyosarcoma. ( 25915760 )
2015
38
A rare case of subglottic embryonal rhabdomyosarcoma: managed with the aim of organ preservation. ( 25529459 )
2015
39
Insulin-like Growth Factor 2 Gene Expression Molecularly Differentiates Pleuropulmonary Blastoma and Embryonal Rhabdomyosarcoma. ( 26056800 )
2015
40
Wrong place at the wrong time: A case of cervical embryonal rhabdomyosarcoma in pregnancy. ( 26076166 )
2015
41
Embryonal rhabdomyosarcoma of the middle ear presenting with aural polyp and facial nerve palsy. ( 26556123 )
2015
42
A Patient-Derived Xenograft Model of Parameningeal Embryonal Rhabdomyosarcoma for Preclinical Studies. ( 26696773 )
2015
43
Clinicopathological characteristics and treatment outcomes of Chinese patients with genitourinary embryonal rhabdomyosarcoma. ( 26018798 )
2015
44
Ovarian embryonal rhabdomyosarcoma is a rare manifestation of the DICER1 syndrome. ( 25836323 )
2015
45
Embryonal Rhabdomyosarcoma of the Adult's Vocal Cord: A Case Report. ( 26430531 )
2015
46
Artesunate induces ROS- and p38 MAPK-mediated apoptosis and counteracts tumor growth in vivo in embryonal rhabdomyosarcoma cells. ( 26153023 )
2015
47
A rare case of bilateral cystic nephroma associated with embryonal rhabdomyosarcoma of the penile urethra. ( 25829672 )
2015
48
RECENT INSIGHTS INTO NOTCH SIGNALING IN EMBRYONAL RHABDOMYOSARCOMA. ( 26343114 )
2015
49
Cervical embryonal rhabdomyosarcoma and ovarian Sertoli-Leydig cell tumor with congenital absence of unilateral ovary. ( 26458643 )
2015
50
Rupture of undiagnosed embryonal rhabdomyosarcoma after shock wave lithotripsy in an 11-year-old girl. ( 25485021 )
2014

Variations for Embryonal Rhabdomyosarcoma

Cosmic variations for Embryonal Rhabdomyosarcoma:

9 (show top 50) (show all 55)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM11081 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.733G>T p.G245C 19
2 COSM45255 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.668C>G p.P223R 19
3 COSM45005 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.739A>G p.N247D 19
4 COSM13016 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.226G>C p.E76Q 19
5 COSM13014 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.214G>A p.A72T 19
6 COSM14271 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.1508G>T p.G503V 19
7 COSM13013 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.205G>A p.E69K 19
8 COSM775 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.3140A>G p.H1047R 19
9 COSM763 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.1633G>A p.E545K 19
10 COSM760 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.1624G>A p.E542K 19
11 COSM585 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.183A>T p.Q61H 19
12 COSM584 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.182A>G p.Q61R 19
13 COSM564 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.35G>A p.G12D 19
14 COSM580 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.181C>A p.Q61K 19
15 COSM574 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.38G>T p.G13V 19
16 COSM569 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.37G>C p.G13R 19
17 COSM562 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.34G>T p.G12C 19
18 COSM563 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.34G>A p.G12S 19
19 COSM1745010 MYOD1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.365T>G p.L122R 19
20 COSM521 KRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.35G>A p.G12D 19
21 COSM516 KRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.34G>T p.G12C 19
22 COSM553 KRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.182A>T p.Q61L 19
23 COSM522 KRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.35G>C p.G12A 19
24 COSM483 HRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.35G>T p.G12V 19
25 COSM480 HRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.34G>A p.G12S 19
26 COSM496 HRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.181C>A p.Q61K 19
27 COSM486 HRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.37G>C p.G13R 19
28 COSM481 HRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.34G>T p.G12C 19
29 COSM3744763 DICER1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.5428G>T p.D1810Y 19
30 COSM959251 DICER1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.5113G>A p.E1705K 19
31 COSM3738459 DICER1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.5437G>A p.E1813K 19
32 COSM4169595 DICER1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.5425G>A p.G1809R 19
33 COSM3738549 DICER1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.5365-1G>T p.? 19
34 COSM3738451 DICER1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.5439G>T p.E1813D 19
35 COSM393242 DICER1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.2062C>T p.R688* 19
36 COSM5664 CTNNB1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.121A>G p.T41A 19
37 COSM5692 CTNNB1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.134C>A p.S45Y 19
38 COSM1651691 ALK soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.3830T>C p.I1277T 19
39 COSM143842 ALK soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.3673G>A p.D1225N 19
40 COSM99938 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.37G>C p.G13R 19
41 COSM45256 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.871A>C p.K291Q 9
42 COSM10813 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.394A>G p.K132E 9
43 COSM44536 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.728T>C p.M243T 9
44 COSM45253 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.611A>G p.E204G 9
45 COSM10660 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.818G>A p.R273H 9
46 COSM766 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,NS c.1636C>A p.Q546K 9
47 COSM1235326 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,NS c.3023C>T p.S1008F 9
48 COSM762 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,NS c.1625A>T p.E542V 9
49 COSM586 NRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.183A>C p.Q61H 9
50 COSM532 KRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.38G>A p.G13D 9

Copy number variations for Embryonal Rhabdomyosarcoma from CNVD:

7
id 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

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

(show all 19)
id Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.97 EWSR1 GLI1 IGF2 MYCN MYOD1 MYOG
2 negative regulation of cell proliferation GO:0008285 9.88 HRAS MYOG PTCH1 TP53
3 positive regulation of cell proliferation GO:0008284 9.83 CDK4 GLI1 HRAS IGF2 MYCN
4 multicellular organism development GO:0007275 9.76 CDK4 GLI1 IGF2 MYOD1 MYOG PAX3
5 animal organ morphogenesis GO:0009887 9.7 HRAS PAX3 PTCH1
6 positive regulation of myoblast differentiation GO:0045663 9.58 MYOD1 MYOG
7 regulation of smoothened signaling pathway GO:0008589 9.57 GLI1 PTCH1
8 skeletal muscle tissue regeneration GO:0043403 9.56 MYOG PAX7
9 muscle organ development GO:0007517 9.56 MYOD1 MYOG PAX3 PAX7
10 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.56 GLI1 HRAS MYCN MYOD1 MYOG PAX3
11 positive regulation of myoblast fusion GO:1901741 9.55 MYOD1 MYOG
12 myoblast differentiation GO:0045445 9.54 MYOD1 MYOG
13 skeletal muscle tissue development GO:0007519 9.54 MYOD1 MYOG PAX7
14 myotube differentiation GO:0014902 9.51 MYOD1 MYOG
15 dorsal/ventral neural tube patterning GO:0021904 9.49 PAX7 PTCH1
16 positive regulation of skeletal muscle fiber development GO:0048743 9.46 MYOD1 MYOG
17 muscle cell fate commitment GO:0042693 9.4 MYOD1 MYOG
18 positive regulation of transcription, DNA-templated GO:0045893 9.17 GLI1 MYCN MYOD1 MYOG PAX3 PTCH1
19 transcription, DNA-templated GO:0006351 10.08 EWSR1 GLI1 MYCN MYOD1 MYOG PAX3

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

id Name GO ID Score Top Affiliating Genes
1 transcription factor activity, sequence-specific DNA binding GO:0003700 9.63 MYCN MYOD1 MYOG PAX3 PAX7 TP53
2 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding GO:0001228 9.43 MYOD1 MYOG TP53
3 cyclin binding GO:0030332 9.32 CDK4 PTCH1
4 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.13 GLI1 MYOD1 MYOG
5 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 8.92 GLI1 MYOD1 MYOG TP53

Sources for Embryonal Rhabdomyosarcoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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