MCID: RHB024
MIFTS: 58

Rhabdomyosarcoma 2

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

Aliases & Classifications for Rhabdomyosarcoma 2

MalaCards integrated aliases for Rhabdomyosarcoma 2:

Name: Rhabdomyosarcoma 2 57 75
Alveolar Rhabdomyosarcoma 12 53 59 37 29 15 73
Rhabdomyosarcoma Alveolar 53 75 55 40
Rhabdomyosarcoma, Alveolar 57 76 44
Alveolar Childhood Rhabdomyosarcoma 12 73
Rhabdomyosarcoma 2, Alveolar 57 13
Rms2 57 75
Rmsa 57 75
Pediatric Alveolar Rhabdomyosarcoma 12
Rhabdomyosarcoma, Alveolar; Rmsa 57
Arms 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
rhabdomyosarcoma 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 268220
Disease Ontology 12 DOID:4051
MeSH 44 D018232
NCIt 50 C3749 C7958
SNOMED-CT 68 404053004 63449009
Orphanet 59 ORPHA99756
UMLS via Orphanet 74 C0206655
ICD10 via Orphanet 34 C49.9
MESH via Orphanet 45 D018232
MedGen 42 C0206655
KEGG 37 H00037
SNOMED-CT via HPO 69 258211005

Summaries for Rhabdomyosarcoma 2

UniProtKB/Swiss-Prot : 75 Rhabdomyosarcoma 2: A form of rhabdomyosarcoma, a highly malignant tumor of striated muscle derived from primitive mesenchymal cells and exhibiting differentiation along rhabdomyoblastic lines. Rhabdomyosarcoma is one of the most frequently occurring soft tissue sarcomas and the most common in children. It occurs in four forms: alveolar, pleomorphic, embryonal and botryoidal rhabdomyosarcomas.

MalaCards based summary : Rhabdomyosarcoma 2, also known as alveolar rhabdomyosarcoma, is related to embryonal rhabdomyosarcoma and rhabdomyosarcoma. An important gene associated with Rhabdomyosarcoma 2 is PAX3 (Paired Box 3), and among its related pathways/superpathways are Transcriptional misregulation in cancer and Pathways in cancer. The drugs Carboplatin and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include bone, skeletal muscle and lung, and related phenotypes are alveolar rhabdomyosarcoma and growth/size/body region

Wikipedia : 76 Alveolar rhabdomyosarcoma (ARMS) is a sub-type of the rhabdomyosarcoma soft tissue cancer family whose... more...

Description from OMIM: 268220

Related Diseases for Rhabdomyosarcoma 2

Diseases in the Rhabdomyosarcoma family:

Rhabdomyosarcoma 2

Diseases related to Rhabdomyosarcoma 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 105)
# Related Disease Score Top Affiliating Genes
1 embryonal rhabdomyosarcoma 26.5 CDK4 DES EWSR1 FOXO1 MB MYCN
2 rhabdomyosarcoma 24.7 ALK CDK4 DES ENO2 EWSR1 FOXO1
3 orbit alveolar rhabdomyosarcoma 11.1
4 ring chromosome 7 10.7 CDK4 MDM2
5 adrenal neuroblastoma 10.7 ENO2 MYCN
6 giant cell myocarditis 10.7 DES MB
7 cervical polyp 10.7 DES MYOD1
8 malignant triton tumor 10.7 DES MB
9 infiltrating angiolipoma 10.7 CDK4 MDM2
10 primitive neuroectodermal tumor of the cervix uteri 10.6 DES ENO2
11 cellular schwannoma 10.6 MDM2 PAX3 PAX7
12 sclerosing liposarcoma 10.6 MB MDM2
13 malignant ectomesenchymoma 10.6 DES ENO2
14 extraosseous osteosarcoma 10.6 CDK4 MDM2
15 inflammatory mfh 10.6 CDK4 MDM2
16 epulis 10.6 DES ENO2
17 ossifying fibromyxoid tumor 10.5 DES ENO2
18 orbit rhabdomyosarcoma 10.5 MB MYOG
19 pericardium cancer 10.5 ENO2 MB MYCN
20 spindle cell rhabdomyosarcoma 10.5 DES MB MYOD1
21 central nervous system mesenchymal non-meningothelial tumor 10.5 FOXO1 MYOD1 PAX3 PAX7
22 epithelioid leiomyosarcoma 10.5 DES ENO2
23 myofibroma 10.5 DES MB
24 ectomesenchymoma 10.5 DES ENO2 PAX3
25 bilateral retinoblastoma 10.5 DES MB MYCN
26 adult medulloblastoma 10.5 ENO2 MDM2 MYCN
27 childhood kidney cell carcinoma 10.5 ALK FOXO1 PAX3
28 mixed liposarcoma 10.5 CDK4 MB MDM2
29 kidney sarcoma 10.5 TH WT1
30 heart sarcoma 10.5 ENO2 MDM2 WT1
31 kidney clear cell sarcoma 10.5 TH WT1
32 sarcomatosis 10.5 EWSR1 WT1
33 lipoblastoma 10.5 CDK4 MDM2
34 neonatal hypoxic and ischemic brain injury 10.4 ENO2 TH
35 chondroid lipoma 10.4 CDK4 ENO2 MDM2
36 ovarian small cell carcinoma 10.4 DES WT1
37 small cell osteogenic sarcoma 10.4 ENO2 EWSR1
38 conventional central osteosarcoma 10.4 EWSR1 MDM2
39 glomangioma 10.4 DES ENO2 MB
40 ischemic fasciitis 10.4 CDK4 DES MDM2
41 dedifferentiated liposarcoma 10.4 CDK4 DES MDM2
42 epithelioid cell melanoma 10.4 ENO2 WT1
43 lipomatosis, multiple 10.4 CDK4 DES MDM2
44 orbital cancer 10.4 ENO2 EWSR1
45 conventional leiomyosarcoma 10.3 MYOD1 MYOG PAX7
46 botryoid rhabdomyosarcoma 10.3 DES MB MYOD1 PAX3
47 soft tissue sarcoma 10.3 EWSR1 FOXO1 MDM2
48 breast cancer 10.3
49 sarcoma, synovial 10.3 DES IGF1R MDM2
50 askin's tumor 10.2 ENO2 EWSR1 MYCN

Graphical network of the top 20 diseases related to Rhabdomyosarcoma 2:



Diseases related to Rhabdomyosarcoma 2

Symptoms & Phenotypes for Rhabdomyosarcoma 2

Symptoms via clinical synopsis from OMIM:

57
Oncology:
alveolar rhabdomyosarcoma


Clinical features from OMIM:

268220

Human phenotypes related to Rhabdomyosarcoma 2:

32
# Description HPO Frequency HPO Source Accession
1 alveolar rhabdomyosarcoma 32 HP:0006779

MGI Mouse Phenotypes related to Rhabdomyosarcoma 2:

46 (show all 21)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.41 ALK CDK4 ENO2 FOXO1 IGF1R KIDINS220
2 cellular MP:0005384 10.4 CDK4 DES ENO2 FOXO1 IGF1R KIDINS220
3 behavior/neurological MP:0005386 10.38 MDM2 MYCN MYOG PAX3 PAX7 TH
4 cardiovascular system MP:0005385 10.37 MYOD1 PAX3 TH WT1 CDK4 DES
5 homeostasis/metabolism MP:0005376 10.36 CDK4 DES FOXO1 ALK IGF1R MB
6 mortality/aging MP:0010768 10.33 ALK CDK4 DES FOXO1 IGF1R KIDINS220
7 embryo MP:0005380 10.26 CDK4 FOXO1 IGF1R MB MDM2 MYCN
8 hematopoietic system MP:0005397 10.22 WT1 CDK4 FOXO1 IGF1R MB MDM2
9 muscle MP:0005369 10.21 CDK4 DES FOXO1 IGF1R MB MDM2
10 endocrine/exocrine gland MP:0005379 10.2 PAX3 PAX7 ALK CDK4 FOXO1 IGF1R
11 craniofacial MP:0005382 10.12 ENO2 FOXO1 IGF1R MDM2 MYCN PAX3
12 digestive/alimentary MP:0005381 10.11 CDK4 FOXO1 IGF1R MDM2 MYCN PAX3
13 integument MP:0010771 10.1 ALK CDK4 FOXO1 IGF1R MDM2 MYOG
14 neoplasm MP:0002006 10.1 ALK CDK4 FOXO1 IGF1R MDM2 MYOD1
15 liver/biliary system MP:0005370 10.08 CDK4 FOXO1 IGF1R MDM2 MYCN PAX3
16 nervous system MP:0003631 10.07 ALK CDK4 ENO2 IGF1R KIDINS220 MDM2
17 no phenotypic analysis MP:0003012 10.02 MYOG PAX3 PAX7 FOXO1 KIDINS220 MDM2
18 normal MP:0002873 9.96 CDK4 FOXO1 MDM2 MYCN MYOD1 MYOG
19 reproductive system MP:0005389 9.76 ALK CDK4 FOXO1 IGF1R MDM2 MYCN
20 respiratory system MP:0005388 9.7 IGF1R MB MYCN MYOD1 MYOG PAX3
21 skeleton MP:0005390 9.28 ALK FOXO1 IGF1R MDM2 MYCN MYOD1

Drugs & Therapeutics for Rhabdomyosarcoma 2

Drugs for Rhabdomyosarcoma 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 88)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carboplatin Approved Phase 3,Phase 2 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,Not Applicable 23214-92-8 31703
5
Etoposide Approved Phase 3,Phase 2,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 119413-54-6, 123948-87-8 60700
9
Vincristine Approved, Investigational Phase 3,Phase 2,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 97682-44-5, 100286-90-6 60838
12
Lenograstim Approved, Investigational Phase 3,Phase 2 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,Not Applicable 31703
20
Camptothecin Experimental Phase 3,Phase 2 7689-03-4
21 Alkylating Agents Phase 3,Phase 2,Not Applicable
22 Anti-Bacterial Agents Phase 3,Phase 2,Not Applicable
23 Antibiotics, Antitubercular Phase 3,Phase 2,Not Applicable
24 Anti-Infective Agents Phase 3,Phase 2
25 Antimitotic Agents Phase 3,Phase 2,Not Applicable
26 Antineoplastic Agents, Alkylating Phase 3,Phase 2,Not Applicable
27 Antineoplastic Agents, Phytogenic Phase 3,Phase 2,Not Applicable
28 Antirheumatic Agents Phase 3,Phase 2,Not Applicable
29 Etoposide phosphate Phase 3,Phase 2,Not Applicable
30 Immunosuppressive Agents Phase 3,Phase 2,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
34 Topoisomerase Inhibitors Phase 3,Phase 2,Not Applicable
35 Adjuvants, Immunologic Phase 3
36 Antifungal Agents Phase 3,Phase 2
37 Dermatologic Agents Phase 3,Phase 2
38 Anti-Allergic Agents Phase 3
39 Antipruritics Phase 3
40 Gastrointestinal Agents Phase 3
41 Histamine Antagonists Phase 3
42 Histamine H1 Antagonists Phase 3
43
Histamine Phosphate Phase 3 51-74-1 65513
44 Neurotransmitter Agents Phase 3
45 Serotonin Agents Phase 3
46 Serotonin Antagonists Phase 3
47
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
48
Dacarbazine Approved, Investigational Phase 2 4342-03-4 5351166
49
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
50
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394

Interventional clinical trials:

(show all 35)
# 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 Surgery Followed by Chemotherapy in Treating Young Patients With Soft Tissue Sarcoma Completed NCT00002898 Phase 3 carboplatin;cyclophosphamide;epirubicin hydrochloride;etoposide;ifosfamide;vincristine sulfate
5 Combination Chemotherapy With or Without Temsirolimus in Treating Patients With Intermediate Risk Rhabdomyosarcoma Recruiting NCT02567435 Phase 3 Cyclophosphamide;Irinotecan Hydrochloride;Temsirolimus;Vincristine Sulfate
6 Cyproheptadine in Preventing Weight Loss in Children Receiving Chemotherapy for Cancer Terminated NCT01132547 Phase 3 cyproheptadine hydrochloride
7 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
8 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
9 A Pilot Study of Autologous T-Cell Transplantation With Vaccine Driven Expansion of Anti-Tumor Effectors After Cytoreductive Therapy in Metastatic Pediatric Sarcomas Completed NCT00001566 Phase 2 indinavir sulfate
10 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
11 Therapy to Treat Ewing's Sarcoma, Rhabdomyosarcoma or Neuroblastoma Completed NCT00923351 Phase 1, Phase 2 Tumor Purged/CD25 Depleted Lymphocytes;rhIL-7
12 Ixabepilone in Treating Young Patients With Refractory Solid Tumors Completed NCT00331643 Phase 2 ixabepilone
13 Combination Chemotherapy Plus Radiation Therapy in Treating Patients With Metastatic Rhabdomyosarcoma or Sarcoma Completed NCT00003955 Phase 2 cyclophosphamide;irinotecan hydrochloride;vincristine sulfate
14 Chemotherapy in Treating Children With Recurrent or Refractory Sarcomas Completed NCT00003745 Phase 2 topotecan hydrochloride
15 Imatinib Mesylate in Treating Patients With Advanced Soft Tissue Sarcoma or Bone Sarcoma Completed NCT00031915 Phase 2 imatinib mesylate
16 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
17 Combination Chemotherapy Followed by Bone Marrow Transplantation in Treating Patients With Rare Cancer Completed NCT00002515 Phase 2 carboplatin;thiotepa;topotecan hydrochloride
18 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
19 A Two-Part Study of TB-403 in Pediatric Subjects With Relapsed or Refractory Medulloblastoma Recruiting NCT02748135 Phase 1, Phase 2 TB-403 20mg/kg;TB-403 50mg/kg;TB-403 100mg/kg;TB-403 ≤175mg/kg
20 CREATE: Cross-tumoral Phase 2 With Crizotinib Active, not recruiting NCT01524926 Phase 2 Crizotinib (PF-02341066)
21 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
22 Safety Study of Seneca Valley Virus in Patients With Solid Tumors With Neuroendocrine Features Unknown status NCT00314925 Phase 1 Seneca Valley Virus (biological agent)
23 Studying Protein Expression in Tissue Samples From Younger Patients With Rhabdomyosarcoma Completed NCT01609803
24 Studying Mechanisms of Radiation Therapy Resistance in Samples From Younger Patients With Rhabdomyosarcoma Completed NCT01626170
25 Biomarkers in Patients With Advanced Rhabdomyosarcoma Completed NCT01668095
26 Biomarkers in Tumor Tissue Samples From Younger Patients With Rhabdomyosarcoma Completed NCT01496573
27 Studying Genes in Samples From Younger Patients With Rhabdomyosarcoma Completed NCT01585376
28 Protein Expression in Samples From Young Patients With Rhabdomyosarcoma Completed NCT01426945
29 Biomarker in Tumor Tissue Samples From Patients With Rhabdomyosarcoma Completed NCT01365962
30 Studying Biomarkers in Samples From Patients With Rhabdomyosarcoma Completed NCT01433237
31 DNA Tests in Detecting Disseminated Disease in Tumor, Blood, and Bone Marrow Samples From Patients With Rhabdomyosarcoma Completed NCT01419509
32 Combination Chemotherapy in Treating Patients With Sarcoma Completed NCT00662233 Not Applicable cyclophosphamide;doxorubicin hydrochloride;etoposide;ifosfamide;vincristine sulfate
33 Genetic Mutational Analysis of Saliva or Buccal Mucosa Samples From Patients With Embryonal or Alveolar Rhabdomyosarcoma Recruiting NCT03296371
34 Collecting and Storing Tissue From Young Patients With Cancer Recruiting NCT00898755
35 Risk Factors for Drusen Progression Withdrawn NCT01830608

Search NIH Clinical Center for Rhabdomyosarcoma 2

Cochrane evidence based reviews: rhabdomyosarcoma, alveolar

Genetic Tests for Rhabdomyosarcoma 2

Genetic tests related to Rhabdomyosarcoma 2:

# Genetic test Affiliating Genes
1 Alveolar Rhabdomyosarcoma 29 FOXO1 PAX3 PAX7

Anatomical Context for Rhabdomyosarcoma 2

MalaCards organs/tissues related to Rhabdomyosarcoma 2:

41
Bone, Skeletal Muscle, Lung, Bone Marrow, Testes, T Cells, Liver

Publications for Rhabdomyosarcoma 2

Articles related to Rhabdomyosarcoma 2:

(show top 50) (show all 386)
# Title Authors Year
1
Cytologic Diagnosis of Metastatic Alveolar Rhabdomyosarcoma in Cerebrospinal Fluid: A Case Report. ( 29902914 )
2018
2
Importance of whole-body imaging with complete coverage of hands and feet in alveolar rhabdomyosarcoma staging. ( 29368010 )
2018
3
Camptothecin exhibits topoisomerase1-independent KMT1A suppression and myogenic differentiation in alveolar rhabdomyosarcoma cells. ( 29899822 )
2018
4
PAX3-FOXO1 drives miR-486-5p and represses miR-221 contributing to pathogenesis of alveolar rhabdomyosarcoma. ( 29367756 )
2018
5
Successful treatment of metastatic alveolar rhabdomyosarcoma with MGMT gene promoter methylation by temozolomide-based combination chemotherapy. ( 28834127 )
2017
6
Sinonasal Tract Alveolar Rhabdomyosarcoma in Adults: A Clinicopathologic and Immunophenotypic Study of Fifty-Two Cases with Emphasis on Epithelial Immunoreactivity. ( 28875443 )
2017
7
NFI_B signaling in alveolar rhabdomyosarcoma. ( 28883017 )
2017
8
Hypercalcaemia secondary to ectopic parathyroid hormone expression in an adolescent with metastatic alveolar rhabdomyosarcoma. ( 28843052 )
2017
9
The proprotein convertase furin is required to maintain viability of alveolar rhabdomyosarcoma cells. ( 27572312 )
2016
10
Breast relapse after metastatic alveolar rhabdomyosarcoma: Is it an incurable entity? ( 27168712 )
2016
11
P/CAF mediates PAX3-FOXO1-dependent oncogenesis in alveolar rhabdomyosarcoma. ( 27453350 )
2016
12
Alveolar rhabdomyosarcoma of the sphenoid sinus mimicking optic neuritis presenting with intermittent visual loss in an adult. ( 27932889 )
2016
13
Helicase CHD4 is an epigenetic coregulator of PAX3-FOXO1 in alveolar rhabdomyosarcoma. ( 27760049 )
2016
14
Decreased CDKN1C Expression in Congenital Alveolar Rhabdomyosarcoma Associated with Beckwith-Wiedemann Syndrome. ( 27345568 )
2016
15
Alveolar rhabdomyosarcoma of maxilla. ( 27194887 )
2016
16
RGD liposome-protamine-siRNA (LPR) nanoparticles targeting PAX3-FOXO1 for alveolar rhabdomyosarcoma therapy. ( 27261335 )
2016
17
Alveolar rhabdomyosarcoma masquerading as Burkitt's lymphoma in bone marrow. ( 25619947 )
2015
18
DAX-1 Expression in Pediatric Rhabdomyosarcomas: Another Immunohistochemical Marker Useful in the Diagnosis of Translocation Positive Alveolar Rhabdomyosarcoma. ( 26168243 )
2015
19
Alveolar rhabdomyosarcoma of nasopharynx and paranasal sinuses with metastasis to breast in a middle-aged woman: a case report and literature review. ( 26823887 )
2015
20
Modeling of the human alveolar rhabdomyosarcoma Pax3-Foxo1 chromosome translocation in mouse myoblasts using CRISPR-Cas9 nuclease. ( 25659124 )
2015
21
Primary alveolar rhabdomyosarcoma of fallopian tube masquerading as a unilateral adnexal mass: A case report and literature review. ( 26549082 )
2015
22
Secreted Frizzled-Related Protein 3 (SFRP3) Is Required for Tumorigenesis of PAX3-FOXO1-Positive Alveolar Rhabdomyosarcoma. ( 26071485 )
2015
23
Alveolar rhabdomyosarcoma on the left maxillary alveolus: a unique presentation. ( 25859531 )
2015
24
Aggressive, solid variant of alveolar rhabdomyosarcoma with cutaneous involvement in a juvenile labrador retriever. ( 25555631 )
2015
25
Alveolar rhabdomyosarcoma of the lip in an adult with clear cell features. ( 25812664 )
2015
26
Alveolar rhabdomyosarcoma with massive disseminated intravascular coagulopathy treated with systemic chemotherapy. ( 26770227 )
2015
27
Radiation therapy may increase metastatic potential in alveolar rhabdomyosarcoma. ( 25790258 )
2015
28
Inhibiting phosphorylation of the oncogenic PAX3-FOXO1 reduces alveolar rhabdomyosarcoma phenotypes identifying novel therapy options. ( 25821947 )
2015
29
Alveolar rhabdomyosarcoma causing acute compartment syndrome of the forearm: a case report and review of the literature. ( 25414558 )
2014
30
Alveolar rhabdomyosarcoma-associated PAX3-FOXO1 promotes tumorigenesis via Hippo pathway suppression. ( 24334454 )
2014
31
Compound HRAS/PIK3CA mutations in Chinese patients with alveolar rhabdomyosarcomas. ( 24641407 )
2014
32
The paternally imprinted DLK1-GTL2 locus is differentially methylated in embryonal and alveolar rhabdomyosarcomas. ( 24173021 )
2014
33
A Study of Alveolar Rhabdomyosarcoma Copy Number Alterations by Single Nucleotide Polymorphism Analysis. ( 24569785 )
2014
34
PDGFRI^ reverses EphB4 signaling in alveolar rhabdomyosarcoma. ( 24733895 )
2014
35
Caveolin-1 is down-regulated in alveolar rhabdomyosarcomas and negatively regulates tumor growth. ( 25313138 )
2014
36
Lymphadenopathic form of solid variant of alveolar rhabdomyosarcoma: A rare case report. ( 25538389 )
2014
37
State of the art in oncology: high risk neuroblastoma, alveolar rhabdomyosarcoma, desmoplastic small round cell tumor, and POST-TEXT 3 and 4 hepatoblastoma. ( 24528957 )
2014
38
Alveolar Rhabdomyosarcoma Masquerading as Embryonal Subtype: The Value of Modern Molecular Diagnostic Testing. ( 24608324 )
2014
39
Successful in vivo tumor visualization using fluorescence laparoscopy in a mouse model of disseminated alveolar rhabdomyosarcoma. ( 25149634 )
2014
40
Glycogen synthase kinase 3I^ represses MYOGENIN function in alveolar rhabdomyosarcoma. ( 24577092 )
2014
41
A study of alveolar rhabdomyosarcoma copy number alterations by single nucleotide polymorphism analysis. ( 24614150 )
2014
42
Unilateral breast metastasis from alveolar rhabdomyosarcoma in adult detected by (18)F-FDG PET/CT. ( 25053243 )
2014
43
A Leukemic Presentation of Alveolar Rhabdomyosarcoma in a 52-Year-Old Woman Without an Identifiable Primary Tumor. ( 25305220 )
2014
44
Cytologic diagnosis of metastatic alveolar rhabdomyosarcoma to the thyroid gland by fine-needle aspiration. ( 24513670 )
2014
45
Adult alveolar rhabdomyosarcoma of the lacrimal sac. ( 25207922 )
2014
46
Fine-needle aspiration biopsy of alveolar rhabdomyosarcoma of stensen's duct: A case report and review of the literature. ( 24599626 )
2014
47
FGFR4 signaling couples to Bim and not Bmf to discriminate subsets of alveolar rhabdomyosarcoma cells. ( 24550147 )
2014
48
FANCD2 is a potential therapeutic target and biomarker in alveolar rhabdomyosarcoma harboring the PAX3-FOXO1 fusion gene. ( 24787670 )
2014
49
GLI inhibitor GANT-61 diminishes embryonal and alveolar rhabdomyosarcoma growth by inhibiting Shh/AKT-mTOR axis. ( 25432075 )
2014
50
PLK1 phosphorylates PAX3-FOXO1 the inhibition of which triggers regression of alveolar rhabdomyosarcoma. ( 25398439 )
2014

Variations for Rhabdomyosarcoma 2

Cosmic variations for Rhabdomyosarcoma 2:

9
(show top 50) (show all 177)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM45256 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.871A>C p.K291Q 17:7673749-7673749 28
2 COSM44536 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.728T>C p.M243T 17:7674235-7674235 28
3 COSM45253 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.611A>G p.E204G 17:7674920-7674920 28
4 COSM766 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.1636C>A p.Q546K 3:179218306-179218306 28
5 COSM760 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.1624G>A p.E542K 3:179218294-179218294 28
6 COSM532 KRAS soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.38G>A p.G13D 12:25245347-25245347 28
7 COSM1042370 EIF4A2 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.854A>G p.K285R 3:186787209-186787209 28
8 COSM6909274 DOT1L soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.1826T>A p.L609Q 19:2214499-2214499 28
9 COSM12475 CDKN2A soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.238C>T p.R80* 9:21971121-21971121 28
10 COSM6948085 APC soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.2335T>G p.L779V 5:112837929-112837929 28
11 COSM6909273 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.1826T>A p.L609Q 19:2214499-2214499 28
12 COSM10648 TP53 soft tissue,striated muscle,rhabdomyosarcoma,pleomorphic c.524G>A p.R175H 17:7675088-7675088 16
13 COSM45005 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.739A>G p.N247D 17:7674224-7674224 16
14 COSM11081 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.733G>T p.G245C 17:7674230-7674230 16
15 COSM10662 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.743G>A p.R248Q 17:7674220-7674220 16
16 COSM10654 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.637C>T p.R213* 17:7674894-7674894 16
17 COSM44720 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.961A>T p.K321* 17:7673567-7673567 16
18 COSM6932 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.733G>A p.G245S 17:7674230-7674230 16
19 COSM10725 TP53 soft tissue,striated muscle,rhabdomyosarcoma,pleomorphic c.701A>G p.Y234C 17:7674262-7674262 16
20 COSM45255 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.668C>G p.P223R 17:7674863-7674863 16
21 COSM6986214 SOX9 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.76A>G p.M26V 17:72121467-72121467 16
22 COSM6945139 RICTOR soft tissue,striated muscle,rhabdomyosarcoma,pleomorphic c.2898-1G>T p.? 5:38952426-38952426 16
23 COSM6986215 PTPRT soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.2277G>T p.Q759H 20:42248779-42248779 16
24 COSM13016 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.226G>C p.E76Q 12:112450406-112450406 16
25 COSM14271 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.1508G>T p.G503V 12:112489084-112489084 16
26 COSM13014 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.214G>A p.A72T 12:112450394-112450394 16
27 COSM13013 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.205G>A p.E69K 12:112450385-112450385 16
28 COSM6986208 PTCH1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.208G>A p.A70T 9:95506593-95506593 16
29 COSM6910708 POLE soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.5975G>C p.C1992S 12:132634215-132634215 16
30 COSM1083818 PIK3CG soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.2638G>A p.E880K 7:106883041-106883041 16
31 COSM763 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.1633G>A p.E545K 3:179218303-179218303 16
32 COSM775 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.3140A>G p.H1047R 3:179234297-179234297 16
33 COSM6914067 PDGFRA soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.3195G>C p.E1065D 4:54295197-54295197 16
34 COSM6964921 NTRK3 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.492C>A p.C164* 15:88137534-88137534 16
35 COSM580 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.181C>A p.Q61K 1:114713909-114713909 16
36 COSM585 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.183A>T p.Q61H 1:114713907-114713907 16
37 COSM564 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.35G>A p.G12D 1:114716126-114716126 16
38 COSM569 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.37G>C p.G13R 1:114716124-114716124 16
39 COSM584 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.182A>G p.Q61R 1:114713908-114713908 16
40 COSM563 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.34G>A p.G12S 1:114716127-114716127 16
41 COSM574 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.38G>T p.G13V 1:114716123-114716123 16
42 COSM562 NRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.34G>T p.G12C 1:114716127-114716127 16
43 COSM6910706 NOTCH1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.3277T>C p.Y1093H 9:136508280-136508280 16
44 COSM6933086 NF1 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.7870G>C p.A2624P 17:31357269-31357269 16
45 COSM516 KRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.34G>T p.G12C 12:25245351-25245351 16
46 COSM522 KRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.35G>C p.G12A 12:25245350-25245350 16
47 COSM553 KRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.182A>T p.Q61L 12:25227342-25227342 16
48 COSM6930430 KMT2D soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.1291G>T p.E431* 12:49052392-49052392 16
49 COSM2965310 KDM6A soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.493C>T p.R165* 23:45020659-45020659 16
50 COSM486 HRAS soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.37G>C p.G13R 11:534286-534286 16

Copy number variations for Rhabdomyosarcoma 2 from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 25460 1 18957499 19075360 Amplification PAX7 Alveolar rhabdomyosarcoma
2 76221 13 28900000 50900000 Amplification FOXO1A Alveolar rhabdomyosarcoma
3 141698 2 215300000 221500000 Amplification PAX3 Alveolar rhabdomyosarcoma

Expression for Rhabdomyosarcoma 2

Search GEO for disease gene expression data for Rhabdomyosarcoma 2.

Pathways for Rhabdomyosarcoma 2

Pathways related to Rhabdomyosarcoma 2 according to KEGG:

37
# Name Kegg Source Accession
1 Transcriptional misregulation in cancer hsa05202

GO Terms for Rhabdomyosarcoma 2

Biological processes related to Rhabdomyosarcoma 2 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.91 FOXO1 MYCN MYOD1 MYOG PAX3 PAX7
2 heart development GO:0007507 9.83 MB MDM2 TH WT1
3 regulation of gene expression GO:0010468 9.81 CDK4 MDM2 MYOD1 PAX7
4 positive regulation of transcription, DNA-templated GO:0045893 9.73 FOXO1 MYCN MYOD1 MYOG PAX3 WT1
5 cellular response to growth factor stimulus GO:0071363 9.61 MDM2 MYOG TH
6 positive regulation of myoblast fusion GO:1901741 9.55 MYOD1 MYOG
7 myotube differentiation GO:0014902 9.54 MYOD1 MYOG
8 skeletal muscle tissue development GO:0007519 9.5 MYOD1 MYOG PAX7
9 cellular response to alkaloid GO:0071312 9.49 MDM2 TH
10 positive regulation of skeletal muscle fiber development GO:0048743 9.48 MYOD1 MYOG
11 negative regulation of apoptotic process GO:0043066 9.43 ALK FOXO1 IGF1R MDM2 PAX7 WT1
12 muscle cell fate commitment GO:0042693 9.4 MYOD1 MYOG
13 response to ether GO:0045472 9.16 MDM2 TH
14 muscle organ development GO:0007517 8.92 MYOD1 MYOG PAX3 PAX7
15 multicellular organism development GO:0007275 10 ALK CDK4 IGF1R MYOD1 MYOG PAX3

Molecular functions related to Rhabdomyosarcoma 2 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 9.7 FOXO1 MYCN MYOD1 MYOG PAX3 PAX7
2 DNA binding transcription factor activity GO:0003700 9.5 FOXO1 MYCN MYOD1 MYOG PAX3 PAX7
3 sequence-specific DNA binding GO:0043565 9.1 FOXO1 MYOD1 MYOG PAX3 PAX7 WT1

Sources for Rhabdomyosarcoma 2

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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