MCID: RHB003
MIFTS: 57

Rhabdomyosarcoma

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

Aliases & Classifications for Rhabdomyosarcoma

MalaCards integrated aliases for Rhabdomyosarcoma:

Name: Rhabdomyosarcoma 12 77 60 38 30 56 6 45 15 17 74

Characteristics:

Orphanet epidemiological data:

60
rhabdomyosarcoma
Inheritance: Multigenic/multifactorial; Prevalence: 1-9/1000000 (Europe); Age of onset: Childhood;

Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:3247
KEGG 38 H00037
MeSH 45 D012208
NCIt 51 C3359
SNOMED-CT 69 30924005
MESH via Orphanet 46 D012208
ICD10 via Orphanet 35 C49.9
UMLS via Orphanet 75 C0035412
Orphanet 60 ORPHA780
UMLS 74 C0035412

Summaries for Rhabdomyosarcoma

Disease Ontology : 12 A skeletal muscle cancer that arise from skeletal muscle progenitors.

MalaCards based summary : Rhabdomyosarcoma is related to rhabdomyosarcoma 2 and embryonal rhabdomyosarcoma. An important gene associated with Rhabdomyosarcoma is ALK (ALK Receptor Tyrosine Kinase), and among its related pathways/superpathways are Transcriptional misregulation in cancer and MicroRNAs in cancer. The drugs Doxorubicin and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include bone, prostate and bone marrow, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and Synthetic lethal with MLN4924 (a NAE inhibitor)

Wikipedia : 77 Rhabdomyosarcoma, or RMS, is an aggressive and highly malignant form of cancer that develops from... more...

Related Diseases for Rhabdomyosarcoma

Diseases in the Rhabdomyosarcoma family:

Rhabdomyosarcoma 2

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

(show top 50) (show all 419)
# Related Disease Score Top Affiliating Genes
1 rhabdomyosarcoma 2 34.7 ALK FOXO1 MYOD1 PAX3 PAX7 RMST
2 embryonal rhabdomyosarcoma 34.6 DICER1 FOXO1 IGF2 MYOD1 PAX3 PAX7
3 botryoid rhabdomyosarcoma 34.5 MYOD1 PAX3
4 parameningeal embryonal rhabdomyosarcoma 34.3 ALK TP53
5 pleomorphic rhabdomyosarcoma 34.3 FOXO1 MYOD1 PAX3 PAX7
6 breast rhabdomyosarcoma 34.1 FOXO1 MYOD1
7 beckwith-wiedemann syndrome 32.9 IGF2 MYOD1 SLC22A18 STIM1 TP53
8 ewing sarcoma 30.9 ALK FOXO1 IGF2 MYOD1 PAX3 PAX7
9 breast cancer 30.8 ALK BRCA1 FOXO1 IGF2 MIR206 MIR29B2
10 histiocytoma 30.4 ALK MYOD1 TP53
11 rhabdoid cancer 30.2 MYOD1 TP53
12 muscle cancer 30.2 FOXO1 IGF2 MYOD1 PAX3 PAX7 TP53
13 rhabdomyosarcoma, embryonal, 1 12.6
14 spindle cell rhabdomyosarcoma 12.5
15 prostate rhabdomyosarcoma 12.4
16 prostate embryonal rhabdomyosarcoma 12.4
17 rhabdomyosarcoma, embryonal, 2 12.4
18 liver rhabdomyosarcoma 12.4
19 bile duct rhabdomyosarcoma 12.3
20 orbit rhabdomyosarcoma 12.2
21 mediastinum rhabdomyosarcoma 12.2
22 anus rhabdomyosarcoma 12.2
23 childhood botryoid rhabdomyosarcoma 12.2
24 childhood vagina botryoid rhabdomyosarcoma 12.2
25 vagina botryoid rhabdomyosarcoma 12.2
26 adult botryoid rhabdomyosarcoma 12.2
27 adult vagina botryoid rhabdomyosarcoma 12.2
28 orbit embryonal rhabdomyosarcoma 12.2
29 central nervous system rhabdomyosarcoma 12.1
30 gallbladder rhabdomyosarcoma 12.1
31 rhabdomyosarcoma of the cervix uteri 12.1
32 orbit alveolar rhabdomyosarcoma 12.1
33 vulvovaginal rhabdomyosarcoma 12.1
34 rhabdomyosarcoma of the corpus uteri 12.1
35 mixed type rhabdomyosarcoma 12.0
36 childhood pleomorphic rhabdomyosarcoma 12.0
37 embryonal extrahepatic bile duct rhabdomyosarcoma 12.0
38 rectum rhabdomyosarcoma 12.0
39 ovary rhabdomyosarcoma 12.0
40 testis rhabdomyosarcoma 12.0
41 vulvar childhood botryoid-type embryonal rhabdomyosarcoma 12.0
42 li-fraumeni syndrome 11.5
43 mosaic variegated aneuploidy syndrome 1 11.5
44 mismatch repair cancer syndrome 11.5
45 ectomesenchymoma 11.4
46 soft tissue sarcoma 11.4
47 li-fraumeni syndrome 2 11.3
48 undifferentiated pleomorphic sarcoma 11.3
49 malignant ectomesenchymoma 11.3
50 large cell carcinoma with rhabdoid phenotype 11.1

Graphical network of the top 20 diseases related to Rhabdomyosarcoma:



Diseases related to Rhabdomyosarcoma

Symptoms & Phenotypes for Rhabdomyosarcoma

GenomeRNAi Phenotypes related to Rhabdomyosarcoma according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.4 BRCA1 FOXO1 PAX3 PAX7 SLC22A18 TP53
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.4 BRCA1 FOXO1 PAX3 PAX7 SLC22A18 TP53

MGI Mouse Phenotypes related to Rhabdomyosarcoma:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.11 BRCA1 DICER1 FHL2 FOXO1 IGF2 MYOD1
2 integument MP:0010771 10.03 ALK BRCA1 DICER1 FOXO1 IGF2 PAX3
3 muscle MP:0005369 9.97 BRCA1 DICER1 FOXO1 IGF2 MYOD1 PAX3
4 neoplasm MP:0002006 9.92 ALK BRCA1 DICER1 FOXO1 MYOD1 PAX3
5 limbs/digits/tail MP:0005371 9.88 BRCA1 DICER1 FOXO1 IGF2 PAX3 TP53
6 no phenotypic analysis MP:0003012 9.8 DICER1 FOXO1 IGF2 MYOD1 PAX3 PAX7
7 normal MP:0002873 9.76 BRCA1 DICER1 FHL2 FOXO1 MYOD1 PAX3
8 respiratory system MP:0005388 9.61 ALK BRCA1 DICER1 IGF2 MYOD1 PAX3
9 skeleton MP:0005390 9.36 ALK BRCA1 DICER1 FHL2 FOXO1 IGF2

Drugs & Therapeutics for Rhabdomyosarcoma

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

(show top 50) (show all 292)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Doxorubicin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 23214-92-8 31703
2
Cyclophosphamide Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable 50-18-0, 6055-19-2 2907
3
Doxil Approved June 1999 Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 31703
4 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
5 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
6 Antineoplastic Agents, Alkylating Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
7 Alkylating Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
8 Immunologic Factors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
9 Antibiotics, Antitubercular Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
10 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
11 Topoisomerase Inhibitors Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1,Not Applicable
12
Dactinomycin Approved, Investigational Phase 3,Phase 2 50-76-0 457193 2019
13
Vincristine Approved, Investigational Phase 3,Phase 2,Phase 1,Early Phase 1 2068-78-2, 57-22-7 5978
14
Carboplatin Approved Phase 3,Phase 2,Phase 1,Not Applicable 41575-94-4 10339178 38904 498142
15
Ifosfamide Approved Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable 3778-73-2 3690
16
Vinorelbine Approved, Investigational Phase 3,Phase 2,Phase 1 71486-22-1 44424639 60780
17
Topotecan Approved, Investigational Phase 3,Phase 1,Phase 2 119413-54-6, 123948-87-8 60700
18
Morphine Approved, Investigational Phase 3,Phase 1,Phase 2 57-27-2 5288826
19
Etoposide Approved Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable 33419-42-0 36462
20
Irinotecan Approved, Investigational Phase 3,Phase 2,Phase 1 100286-90-6, 97682-44-5 60838
21
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1,Not Applicable 22916-47-8 4189
22
Everolimus Approved Phase 3,Phase 2,Phase 1 159351-69-6 70789204 6442177
23
Sirolimus Approved, Investigational Phase 3,Phase 2,Phase 1 53123-88-9 46835353 5284616 6436030
24
Mechlorethamine Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 51-75-2 4033
25
Mesna Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 3375-50-6 598
26
Lenograstim Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 135968-09-1
27
Sargramostim Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 123774-72-1, 83869-56-1
28
Epirubicin Approved Phase 3,Phase 2 56420-45-2 41867
29
Amphotericin B Approved, Investigational Phase 3 1397-89-3 5280965 14956
30
Captopril Approved Phase 3 62571-86-2 44093
31
Ribavirin Approved Phase 3 36791-04-5 37542
32
Palivizumab Approved, Investigational Phase 3 188039-54-5
33
Fluconazole Approved, Investigational Phase 3 86386-73-4 3365
34
Itraconazole Approved, Investigational Phase 3,Not Applicable 84625-61-6 55283
35
Acyclovir Approved Phase 3 59277-89-3 2022
36
Idarubicin Approved Phase 3 58957-92-9 42890
37
Mycophenolic acid Approved Phase 3,Phase 2 24280-93-1 446541
38
Histamine Approved, Investigational Phase 3 51-45-6 774
39
Cyproheptadine Approved Phase 3 129-03-3 2913
40
Glutamic Acid Approved, Nutraceutical Phase 3 56-86-0 33032
41
Calcium Approved, Nutraceutical Phase 3,Phase 2,Phase 1,Not Applicable 7440-70-2 271
42
Camptothecin Experimental Phase 3,Phase 2,Phase 1 7689-03-4
43
Emodepside Investigational, Vet_approved Phase 3,Phase 2 155030-63-0
44 Trofosfamide Investigational Phase 3 22089-22-1
45 Antimitotic Agents Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
46 Anti-Infective Agents Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
47 Nucleic Acid Synthesis Inhibitors Phase 3,Phase 2,Phase 1,Not Applicable
48 Antineoplastic Agents, Phytogenic Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
49 topoisomerase I inhibitors Phase 3,Phase 1,Phase 2
50 Etoposide phosphate Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 284)
# Name Status NCT ID Phase Drugs
1 EpSSG (European Soft Tissue Sarcoma Study Group) Protocol for Non-Metastatic Rhabdomyosarcoma in Children Unknown status NCT00339118 Phase 4 doxorubicin, cytoxan
2 Vincristine, Dactinomycin, and Cyclophosphamide With or Without Radiation Therapy in Treating Patients With Newly Diagnosed Low-Risk Rhabdomyosarcoma Unknown status NCT00075582 Phase 3 dactinomycin;cyclophosphamide;vincristine sulfate
3 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
4 High-Dose Combination Chemotherapy and Radiation Therapy in Treating Patients With Newly Diagnosed Metastatic Rhabdomyosarcoma or Ectomesenchymoma Completed NCT00354744 Phase 3 cyclophosphamide;doxorubicin hydrochloride;etoposide;ifosfamide;irinotecan hydrochloride;vincristine sulfate
5 Combination Chemotherapy and Radiation Therapy in Treating Patients With Newly Diagnosed Rhabdomyosarcoma Completed NCT00354835 Phase 3 Irinotecan Hydrochloride;Cyclophosphamide;Vincristine Sulfate
6 Combination Chemotherapy in Treating Patients With Previously Untreated Rhabdomyosarcoma Completed NCT00003958 Phase 3 vincristine sulfate;cyclophosphamide;topotecan hydrochloride
7 Combination Chemotherapy With or Without Radiation Therapy in Treating Patients With Newly Diagnosed Rhabdomyosarcoma Completed NCT00002995 Phase 3 cyclophosphamide;vincristine sulfate
8 Surgery Followed by Chemotherapy in Treating Young Patients With Soft Tissue Sarcoma Completed NCT00002898 Phase 3 carboplatin;cyclophosphamide;epirubicin hydrochloride;etoposide;ifosfamide;vincristine sulfate
9 Glutamic Acid in Reducing Nerve Damage Caused by Vincristine in Young Patients With Cancer Completed NCT00369564 Phase 3 glutamic acid
10 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
11 Liposomal Amphotericin B in Treating Granulocytopenia and Persistent Unexplained Fever in Cancer Patients Completed NCT00003938 Phase 3 liposomal amphotericin B
12 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
13 Music Therapy or Book Discussion in Improving Quality of Life in Young Patients Undergoing Stem Cell Transplant Completed NCT00305851 Phase 3
14 Captopril in Treating Patients Undergoing Bone Marrow or Stem Cell Transplantation Completed NCT00004230 Phase 3 captopril;cyclophosphamide
15 Ribavirin With or Without Monoclonal Antibody Therapy in Treating Patients Who Develop RSV Pneumonia Following Peripheral Stem Cell Transplantation Completed NCT00014391 Phase 3 ribavirin
16 Itraconazole Compared With Fluconazole to Prevent Infections in Patients Undergoing Peripheral Stem Cell or Bone Marrow Transplantation Completed NCT00003883 Phase 3 fluconazole;itraconazole
17 Valacyclovir in Preventing Cytomegalovirus Infection in Patients Who Are Undergoing Donor Stem Cell Transplantation Completed NCT00045292 Phase 3 acyclovir;acyclovir sodium;valacyclovir
18 Doxorubicin With or Without Ifosfamide and Pegfilgrastim in Treating Patients With Locally Advanced or Metastatic Soft Tissue Sarcoma Completed NCT00061984 Phase 3 doxorubicin hydrochloride;ifosfamide
19 Ifosfamide or Doxorubicin in Treating Patients With Advanced or Metastatic Soft Tissue Sarcoma Completed NCT00003212 Phase 3 doxorubicin hydrochloride;ifosfamide
20 Combination Chemotherapy With or Without Hyperthermia Therapy in Treating Patients With Soft Tissue Sarcoma Completed NCT00003052 Phase 3 doxorubicin hydrochloride;etoposide;ifosfamide
21 Surgery With or Without Chemotherapy in Treating Patients With Soft Tissue Sarcoma Completed NCT00002641 Phase 3 doxorubicin hydrochloride;ifosfamide;isolated perfusion
22 Combination Chemotherapy With or Without Temsirolimus in Treating Patients With Intermediate Risk Rhabdomyosarcoma Recruiting NCT02567435 Phase 3 Cyclophosphamide;Irinotecan Hydrochloride;Temsirolimus;Vincristine Sulfate;Vinorelbine
23 Trial for Localised High-risk Rhabdomyosarcoma and Rhabdomyosarcoma-like Soft Tissue Sarcoma Recruiting NCT00876031 Phase 3 trofosfamide, idarubicin, etoposide
24 Rhabdomyosarcoma and Malignant Soft Tissue Tumours of Childhood Terminated NCT00162695 Phase 3 Ifosfamide, oncovin, actinomycine D, epirubicine, carboplatinum, etoposide
25 Cyproheptadine in Preventing Weight Loss in Children Receiving Chemotherapy for Cancer Terminated NCT01132547 Phase 3 cyproheptadine hydrochloride
26 Mycophenolate Mofetil (MMF) for Treatment of Chronic Graft-versus-host Disease (GVHD) Terminated NCT00089141 Phase 3 mycophenolate mofetil;placebo
27 Vincristine, Dactinomycin, and Cyclophosphamide in Treating Patients With Embryonal Rhabdomyosarcoma Unknown status NCT00245089 Phase 2 cyclophosphamide;vincristine sulfate
28 Vincristine, Dactinomycin, and Cyclophosphamide With or Without Radiation Therapy in Treating Patients With Embryonal Rhabdomyosarcoma Unknown status NCT00245141 Phase 2 cyclophosphamide;vincristine sulfate
29 Phase II Study of Everolimus in Children and Adolescents With Refractory or Relapsed Rhabdomyosarcoma and Other Soft Tissue Sarcomas Unknown status NCT01216839 Phase 2 Everolimus
30 Study of Vinorelbine and Cyclofosfamide Among Patients With Refractory Tumours or in Relapse Unknown status NCT00180947 Phase 2 Vinorelbine, cyclofosfamide
31 Phase I Dose Escalation Study of Topotecan and Pazopanib in Children With Recurrent/Refractory Solid and CNS Tumours Unknown status NCT02303028 Phase 1, Phase 2 Topotecan and Pazopanib
32 Umbilical Cord Blood for Stem Cell Transplantation in Treating Young Patients With Malignant or Nonmalignant Diseases Unknown status NCT00084695 Phase 2 busulfan;cyclophosphamide;fludarabine phosphate;melphalan;methylprednisolone
33 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
34 Autologous Dendritic Cell Vaccine Loaded With Allogeneic Tumor Lysate Expression of Cancer Testis Antigens in Patients With Soft Tissue Sarcoma Unknown status NCT01883518 Phase 1, Phase 2
35 Brostallicin or Doxorubicin as First-Line Therapy in Treating Patients With Relapsed, Refractory, or Metastatic Soft Tissue Sarcoma Unknown status NCT00410462 Phase 2 brostallicin;doxorubicin hydrochloride
36 Temozolomide in Treating Patients With Advanced Soft Tissue Sarcoma Unknown status NCT00003718 Phase 2 temozolomide
37 A Study of Lymphoseek® as a Lymphoid Tissue Targeting Agent in Pediatric Patients With Melanoma, Rhabdomyosarcoma, or Other Solid Tumors Who Are Undergoing Lymph Node Mapping Completed NCT02509598 Phase 2 Tc99m tilmanocept;Vital Blue Dye (optional)
38 Exatecan Mesylate in Treating Children With Relapsed or Refractory Rhabdomyosarcoma Completed NCT00055939 Phase 2 exatecan mesylate
39 Sorafenib Tosylate in Treating Younger Patients With Relapsed or Refractory Rhabdomyosarcoma, Wilms Tumor, Liver Cancer, or Thyroid Cancer Completed NCT01502410 Phase 2 sorafenib tosylate
40 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
41 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
42 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
43 New Therapeutic Strategies for Patients With Ewing's Sarcoma Family of Tumors, High Risk Rhabdomyosarcoma, and Neuroblastoma Completed NCT00001335 Phase 2 ADR-529;Topotecan;G-CSF
44 Combination Chemotherapy Plus Radiation Therapy in Treating Patients With Metastatic Rhabdomyosarcoma or Sarcoma Completed NCT00003955 Phase 2 cyclophosphamide;irinotecan hydrochloride;vincristine sulfate
45 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
46 Therapy to Treat Ewing's Sarcoma, Rhabdomyosarcoma or Neuroblastoma Completed NCT00923351 Phase 1, Phase 2 Tumor Purged/CD25 Depleted Lymphocytes;rhIL-7
47 Holmium Ho 166 DOTMP Followed by Peripheral Stem Cell Transplantation in Treating Patients With Metastatic Ewing's Sarcoma or Rhabdomyosarcoma That Has Spread to the Bone Completed NCT00006234 Phase 1, Phase 2
48 A Study of R1507 in Participants With Recurrent or Refractory Sarcoma Completed NCT00642941 Phase 2 RG1507
49 Trabectedin in Treating Young Patients With Recurrent or Refractory Soft Tissue Sarcoma or Ewing's Family of Tumors Completed NCT00070109 Phase 2 trabectedin
50 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

Search NIH Clinical Center for Rhabdomyosarcoma

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Cochrane evidence based reviews: rhabdomyosarcoma

Genetic Tests for Rhabdomyosarcoma

Genetic tests related to Rhabdomyosarcoma:

# Genetic test Affiliating Genes
1 Rhabdomyosarcoma 30

Anatomical Context for Rhabdomyosarcoma

MalaCards organs/tissues related to Rhabdomyosarcoma:

42
Bone, Prostate, Bone Marrow, Skeletal Muscle, Cervix, Brain, Lymph Node

Publications for Rhabdomyosarcoma

Articles related to Rhabdomyosarcoma:

(show top 50) (show all 3587)
# Title Authors Year
1
Nasal embryonal rhabdomyosarcoma with bone marrow metastasis simulating acute leukemia: A case report and review of the literature. ( 30902383 )
2019
2
Outcome of localized liver-bile duct rhabdomyosarcoma according to local therapy: A report from the European Paediatric Soft-Tissue Sarcoma Study Group (EpSSG)-RMS 2005 study. ( 30920113 )
2019
3
DICER1 mutation-positive giant botryoid fibroepithelial polyp of the urinary bladder mimicking embryonal rhabdomyosarcoma. ( 29883781 )
2019
4
PARP inhibitors affect growth, survival and radiation susceptibility of human alveolar and embryonal rhabdomyosarcoma cell lines. ( 30357520 )
2019
5
Caveolin-1 enhances metastasis formation in a human model of embryonal rhabdomyosarcoma through Erk signaling cooperation. ( 30771426 )
2019
6
Embryonal rhabdomyosarcoma in a patient with a germline CBL pathogenic variant. ( 30803559 )
2019
7
Aggressive embryonal rhabdomyosarcoma in a 3-month-old boy: A clinical and molecular analysis. ( 30806137 )
2019
8
c-Myb regulates tumorigenic potential of embryonal rhabdomyosarcoma cells. ( 31004084 )
2019
9
Focal adhesion kinase (FAK) phosphorylation is a key regulator of embryonal rhabdomyosarcoma (ERMS) cell viability and migration. ( 31006845 )
2019
10
Getting control during follow-up visits: the views and experiences of parents on tumor surveillance after their children have completed therapy for rhabdomyosarcoma or Ewing sarcoma. ( 30747278 )
2019
11
Rhabdomyosarcoma of the middle ear cavity presenting with Horner's syndrome. ( 30286657 )
2019
12
Small bowel metastasis from pulmonary rhabdomyosarcoma causing intussusception: a case report. ( 31077145 )
2019
13
Management of orbital rhabdomyosarcoma in a child with Li-Fraumeni syndrome. ( 30974170 )
2019
14
Undifferentiated Sarcoma as Intermediate Step in the Progression of Malignant Melanoma to Rhabdomyosarcoma: Histologic, Immunohistochemical, and Molecular Studies of a New Case of Malignant Melanoma With Rhabdomyosarcomatous Differentiation. ( 30085960 )
2019
15
A comparison of adult rhabdomyosarcoma and high grade neuroendocrine carcinoma of the urinary bladder reveals novel PPP1R12A fusions in rhabdomyosarcoma. ( 30946934 )
2019
16
Primary cutaneous pleomorphic rhabdomyosarcoma in the periocular region. ( 29282833 )
2019
17
Combined management of perianal rhabdomyosarcoma with chemotherapy, radical surgery, and irradiation: A series of three consecutive children. ( 30503196 )
2019
18
Cell-Free DNA in Pediatric Rhabdomyosarcoma: Potential and Challenges. ( 30580430 )
2019
19
Reactive Oxygen Species (ROS)-inducing Triterpenoid Inhibits Rhabdomyosarcoma Cell and Tumor Growth through Targeting Sp Transcription Factors. ( 30610105 )
2019
20
Rhabdomyosarcoma. ( 30617267 )
2019
21
Rhabdomyosarcoma. ( 30617281 )
2019
22
Clinicopathologic traits and prognostic factors associated with pediatric sinonasal rhabdomyosarcoma. ( 30629809 )
2019
23
Circ-ZNF609 regulates G1-S progression in rhabdomyosarcoma. ( 30670781 )
2019
24
One-year survivor of adult alveolar rhabdomyosarcoma of the maxillary sinus with orbital extension: Case report: Erratum. ( 30681634 )
2019
25
Aggressive recurrent orbital rhabdomyosarcoma in adulthood. ( 30697526 )
2019
26
The palladacycle complex AJ-5 induces apoptotic cell death while reducing autophagic flux in rhabdomyosarcoma cells. ( 30701092 )
2019
27
NRF2 orchestrates the redox regulation induced by radiation therapy, sustaining embryonal and alveolar rhabdomyosarcoma cells radioresistance. ( 30701326 )
2019
28
Indeterminate Pulmonary Nodules at Diagnosis in Rhabdomyosarcoma: Are They Clinically Significant? A Report From the European Paediatric Soft Tissue Sarcoma Study Group. ( 30702969 )
2019
29
Genetics, epigenetics and redox homeostasis in rhabdomyosarcoma: Emerging targets and therapeutics. ( 30709791 )
2019
30
[Erratum] OBP‑801, a novel histone deacetylase inhibitor, induces M‑phase arrest and apoptosis in rhabdomyosarcoma cells. ( 30720122 )
2019
31
Expanding the Spectrum of Intraosseous Rhabdomyosarcoma: Correlation Between 2 Distinct Gene Fusions and Phenotype. ( 30720533 )
2019
32
Immune targeting of autocrine IGF2 hampers rhabdomyosarcoma growth and metastasis. ( 30732578 )
2019
33
Early detection of the PAX3-FOXO1 fusion gene in circulating tumor-derived DNA in a case of alveolar rhabdomyosarcoma. ( 30739374 )
2019
34
Cervical rhabdomyosarcoma in an endocervical polyp of a 50 year old patient with intermenstrual bleeding. ( 30740507 )
2019
35
Rhabdomyosarcoma diagnosed in the first year of life: Localized, metastatic, and relapsed disease. Outcome data from five trials and one registry of the Cooperative Weichteilsarkom Studiengruppe (CWS). ( 30762282 )
2019
36
AMORE treatment as salvage treatment in children and young adults with relapsed head-neck rhabdomyosarcoma. ( 30773183 )
2019
37
Aggressive orbital rhabdomyosarcoma in adulthood: A case report in a public hospital in Damascus, Syria. ( 30788284 )
2019
38
A rare resected case of pulmonary rhabdomyosarcoma. ( 30806970 )
2019
39
Epigenetic Regulation of the PTEN-AKT-RAC1 Axis by G9a Is Critical for Tumor Growth in Alveolar Rhabdomyosarcoma. ( 30833420 )
2019
40
Prognostic Factors and Treatment Outcomes of Adult Patients With Rhabdomyosarcoma After Multimodality Treatment. ( 30842169 )
2019
41
The anti-tumor growth effect of a novel agent DMAMCL in rhabdomyosarcoma in vitro and in vivo. ( 30850026 )
2019
42
Primary alveolar rhabdomyosarcoma of retrorectal-presacral space in an adult patient: A case report of an uncommon tumor with rare presentation. ( 30855432 )
2019
43
Rhabdomyosarcoma disease spread evaluation on CT scans: Association with primary tumor size and Ki-67 proliferation marker. ( 30875523 )
2019
44
Mutations in the RAS pathway as potential precision medicine targets in treatment of rhabdomyosarcoma. ( 30904164 )
2019
45
Identifying barriers to treatment of childhood rhabdomyosarcoma in resource-limited settings: A literature review. ( 30907501 )
2019
46
Spindle cell rhabdomyosarcoma in a lumbar vertebra with FUS-TFCP2 fusion. ( 30948206 )
2019
47
Rhabdomyosarcoma of the uterus with multiple metastases in a post-menopausal woman. ( 30949355 )
2019
48
Rhabdomyosarcoma and Wilms tumors contain a subpopulation of noggin producing, myogenic cells immunoreactive for lens beaded filament proteins. ( 30973903 )
2019
49
Genetic profiling of rhabdomyosarcoma with clinicopathological and radiological correlation. ( 30975350 )
2019
50
Twist2 amplification in rhabdomyosarcoma represses myogenesis and promotes oncogenesis by redirecting MyoD DNA binding. ( 30975722 )
2019

Variations for Rhabdomyosarcoma

ClinVar genetic disease variations for Rhabdomyosarcoma:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 BRCA1 NM_007294.3(BRCA1): c.844_850dupTCATTAC (p.Gln284Leufs) duplication Pathogenic rs80357989 GRCh37 Chromosome 17, 41246698: 41246704
2 BRCA1 NM_007294.3(BRCA1): c.844_850dupTCATTAC (p.Gln284Leufs) duplication Pathogenic rs80357989 GRCh38 Chromosome 17, 43094681: 43094687
3 TP53 NM_000546.5(TP53): c.704A> G (p.Asn235Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs144340710 GRCh37 Chromosome 17, 7577577: 7577577
4 TP53 NM_000546.5(TP53): c.704A> G (p.Asn235Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs144340710 GRCh38 Chromosome 17, 7674259: 7674259
5 BRCA2 NM_000059.3(BRCA2): c.9874C> T (p.Pro3292Ser) single nucleotide variant Uncertain significance rs876660917 GRCh37 Chromosome 13, 32972524: 32972524
6 BRCA2 NM_000059.3(BRCA2): c.9874C> T (p.Pro3292Ser) single nucleotide variant Uncertain significance rs876660917 GRCh38 Chromosome 13, 32398387: 32398387
7 FGFR4 NM_213647.2(FGFR4): c.1649T> A (p.Val550Glu) single nucleotide variant Likely pathogenic rs1057519793 GRCh37 Chromosome 5, 176522552: 176522552
8 FGFR4 NM_213647.2(FGFR4): c.1649T> A (p.Val550Glu) single nucleotide variant Likely pathogenic rs1057519793 GRCh38 Chromosome 5, 177095551: 177095551
9 ALK NM_004304.4(ALK): c.3673G> A (p.Asp1225Asn) single nucleotide variant Pathogenic rs1057519696 GRCh37 Chromosome 2, 29436920: 29436920
10 ALK NM_004304.4(ALK): c.3673G> A (p.Asp1225Asn) single nucleotide variant Pathogenic rs1057519696 GRCh38 Chromosome 2, 29214054: 29214054
11 FGFR4 NM_213647.2(FGFR4): c.1605C> A (p.Asn535Lys) single nucleotide variant Likely pathogenic rs1057519792 GRCh37 Chromosome 5, 176522416: 176522416
12 FGFR4 NM_213647.2(FGFR4): c.1605C> A (p.Asn535Lys) single nucleotide variant Likely pathogenic rs1057519792 GRCh38 Chromosome 5, 177095415: 177095415
13 FGFR4 NM_213647.2(FGFR4): c.1605C> G (p.Asn535Lys) single nucleotide variant Likely pathogenic rs1057519792 GRCh37 Chromosome 5, 176522416: 176522416
14 FGFR4 NM_213647.2(FGFR4): c.1605C> G (p.Asn535Lys) single nucleotide variant Likely pathogenic rs1057519792 GRCh38 Chromosome 5, 177095415: 177095415

Cosmic variations for Rhabdomyosarcoma:

9 (show top 50) (show all 151)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM45253 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.611A>G p.E204G 17:7674920-7674920 0
2 COSM45255 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.668C>G p.P223R 17:7674863-7674863 0
3 COSM10648 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.524G>A p.R175H 17:7675088-7675088 0
4 COSM45256 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.871A>C p.K291Q 17:7673749-7673749 0
5 COSM45005 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.739A>G p.N247D 17:7674224-7674224 0
6 COSM11081 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.733G>T p.G245C 17:7674230-7674230 0
7 COSM10662 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.743G>A p.R248Q 17:7674220-7674220 0
8 COSM10813 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.394A>G p.K132E 17:7675218-7675218 0
9 COSM44536 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.728T>C p.M243T 17:7674235-7674235 0
10 COSM10654 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.637C>T p.R213* 17:7674894-7674894 0
11 COSM44720 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.961A>T p.K321* 17:7673567-7673567 0
12 COSM6932 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.733G>A p.G245S 17:7674230-7674230 0
13 COSM10725 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.701A>G p.Y234C 17:7674262-7674262 0
14 COSM10660 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.818G>A p.R273H 17:7673802-7673802 0
15 COSM6986214 SOX9 soft tissue,striated muscle,rhabdomyosarcoma,NS c.76A>G p.M26V 17:72121467-72121467 0
16 COSM6945139 RICTOR soft tissue,striated muscle,rhabdomyosarcoma,NS c.2898-1G>T p.? 5:38952426-38952426 0
17 COSM6986215 PTPRT soft tissue,striated muscle,rhabdomyosarcoma,NS c.2277G>T p.Q759H 20:42248779-42248779 0
18 COSM13016 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,NS c.226G>C p.E76Q 12:112450406-112450406 0
19 COSM14271 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,NS c.1508G>T p.G503V 12:112489084-112489084 0
20 COSM13014 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,NS c.214G>A p.A72T 12:112450394-112450394 0
21 COSM13013 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,NS c.205G>A p.E69K 12:112450385-112450385 0
22 COSM6986208 PTCH1 soft tissue,striated muscle,rhabdomyosarcoma,NS c.208G>A p.A70T 9:95506593-95506593 0
23 COSM6910708 POLE soft tissue,striated muscle,rhabdomyosarcoma,NS c.5975G>C p.C1992S 12:132634215-132634215 0
24 COSM1083818 PIK3CG soft tissue,striated muscle,rhabdomyosarcoma,NS c.2638G>A p.E880K 7:106883041-106883041 0
25 COSM766 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,NS c.1636C>A p.Q546K 3:179218306-179218306 0
26 COSM763 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,NS c.1633G>A p.E545K 3:179218303-179218303 0
27 COSM760 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,NS c.1624G>A p.E542K 3:179218294-179218294 0
28 COSM775 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,NS c.3140A>G p.H1047R 3:179234297-179234297 0
29 COSM762 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,NS c.1625A>T p.E542V 3:179218295-179218295 0
30 COSM1235326 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,NS c.3023C>T p.S1008F 3:179234180-179234180 0
31 COSM6914067 PDGFRA soft tissue,striated muscle,rhabdomyosarcoma,NS c.3195G>C p.E1065D 4:54295197-54295197 0
32 COSM6964921 NTRK3 soft tissue,striated muscle,rhabdomyosarcoma,NS c.492C>A p.C164* 15:88137534-88137534 0
33 COSM580 NRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.181C>A p.Q61K 1:114713909-114713909 0
34 COSM574 NRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.38G>T p.G13V 1:114716123-114716123 0
35 COSM584 NRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.182A>G p.Q61R 1:114713908-114713908 0
36 COSM585 NRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.183A>T p.Q61H 1:114713907-114713907 0
37 COSM564 NRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.35G>A p.G12D 1:114716126-114716126 0
38 COSM569 NRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.37G>C p.G13R 1:114716124-114716124 0
39 COSM563 NRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.34G>A p.G12S 1:114716127-114716127 0
40 COSM586 NRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.183A>C p.Q61H 1:114713907-114713907 0
41 COSM562 NRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.34G>T p.G12C 1:114716127-114716127 0
42 COSM6910706 NOTCH1 soft tissue,striated muscle,rhabdomyosarcoma,NS c.3277T>C p.Y1093H 9:136508280-136508280 0
43 COSM6933086 NF1 soft tissue,striated muscle,rhabdomyosarcoma,NS c.7870G>C p.A2624P 17:31357269-31357269 0
44 COSM1745010 MYOD1 soft tissue,striated muscle,rhabdomyosarcoma,NS c.365T>G p.L122R 11:17720147-17720147 0
45 COSM521 KRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.35G>A p.G12D 12:25245350-25245350 0
46 COSM516 KRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.34G>T p.G12C 12:25245351-25245351 0
47 COSM532 KRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.38G>A p.G13D 12:25245347-25245347 0
48 COSM522 KRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.35G>C p.G12A 12:25245350-25245350 0
49 COSM528 KRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.37G>A p.G13S 12:25245348-25245348 0
50 COSM553 KRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.182A>T p.Q61L 12:25227342-25227342 0

Copy number variations for Rhabdomyosarcoma from CNVD:

7 (show all 19)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 32214 1 34600000 40100000 Amplification MYCL1 Rhabdomyosarcoma
2 48341 11 1 2800000 Loss HRAS Rhabdomyosarcoma
3 55467 11 532242 535550 Mutation HRAS Rhabdomyosarcoma
4 69397 12 54900000 58100000 Amplification or los s GLI Rhabdomyosarcoma
5 69949 12 56600000 58100000 Amplification CDK4 Rhabdomyosarcoma
6 69950 12 56600000 58100000 Amplification SAS Rhabdomyosarcoma
7 79876 13 79000000 101700000 Amplification C13orf25 Rhabdomyosarcoma
8 79877 13 79000000 101700000 Amplification GPC5 Rhabdomyosarcoma
9 106840 17 1 3300000 Loss HIC1 Rhabdomyosarcoma
10 106842 17 1 3300000 Loss Rhabdomyosarcoma
11 106969 17 10700000 22200000 Loss Rhabdomyosarcoma
12 110141 17 314735 515143 Loss Rhabdomyosarcoma
13 127361 19 32400000 43400000 Amplification AKT2 Rhabdomyosarcoma
14 185187 4 187100000 191154276 Loss Rhabdomyosarcoma
15 187611 4 52700000 59500000 Loss PDGFRA Rhabdomyosarcoma
16 187815 4 55095264 55146925 Amplificationlicatio n PDGFRA Rhabdomyosarcoma
17 187856 4 55524095 55606879 Amplificationlicatio n C-Kit Rhabdomyosarcoma
18 239020 8 36500000 45600000 Amplification FGFR1 Rhabdomyosarcoma
19 253524 9 43600000 47300000 Loss Rhabdomyosarcoma

Expression for Rhabdomyosarcoma

Search GEO for disease gene expression data for Rhabdomyosarcoma.

Pathways for Rhabdomyosarcoma

Pathways related to Rhabdomyosarcoma according to KEGG:

38
# Name Kegg Source Accession
1 Transcriptional misregulation in cancer hsa05202

GO Terms for Rhabdomyosarcoma

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.8 FHL2 FOXO1 PAX7 TP53
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.8 BRCA1 FOXO1 IGF2 MYOD1 PAX3 PAX7
3 muscle organ development GO:0007517 9.69 MYOD1 PAX3 PAX7
4 regulation of gene expression by genetic imprinting GO:0006349 9.48 BRCA1 IGF2
5 striated muscle cell differentiation GO:0051146 9.46 IGF2 MYOD1
6 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.43 BRCA1 TP53
7 positive regulation of transcription, DNA-templated GO:0045893 9.43 BRCA1 FHL2 FOXO1 MYOD1 PAX3 TP53
8 myotube differentiation GO:0014902 9.4 MYOD1 STIM1
9 enamel mineralization GO:0070166 9.37 FOXO1 STIM1
10 positive regulation of mitochondrial membrane permeability involved in apoptotic process GO:1902110 9.32 MIR29B2 MIR29C
11 negative regulation of circulating fibrinogen levels GO:0061754 9.16 MIR29B2 MIR29C
12 regulation of DNA methylation GO:0044030 8.8 BRCA1 MIR29B2 MIR29C

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

# Name GO ID Score Top Affiliating Genes
1 ubiquitin protein ligase binding GO:0031625 9.02 BRCA1 FOXO1 MYOD1 SLC22A18 TP53

Sources for Rhabdomyosarcoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
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75 UMLS via Orphanet
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