MCID: PLM030
MIFTS: 43

Pleomorphic Rhabdomyosarcoma

Categories: Cancer diseases, Muscle diseases, Rare diseases

Aliases & Classifications for Pleomorphic Rhabdomyosarcoma

MalaCards integrated aliases for Pleomorphic Rhabdomyosarcoma:

Name: Pleomorphic Rhabdomyosarcoma 12 60 15 74
Adult Pleomorphic Rhabdomyosarcoma 12 15 74
Pleomorphic Rhabdomyosarcoma, Adult Type 12
Anaplastic Rhabdomyosarcoma 12

Characteristics:

Orphanet epidemiological data:

60
pleomorphic rhabdomyosarcoma
Prevalence: <1/1000000 (Europe);

Classifications:



External Ids:

Disease Ontology 12 DOID:3250 DOID:8251
NCIt 51 C27369 C4258
SNOMED-CT 69 77455004
ICD10 via Orphanet 35 C49.9
UMLS via Orphanet 75 C0334480
Orphanet 60 ORPHA293199

Summaries for Pleomorphic Rhabdomyosarcoma

MalaCards based summary : Pleomorphic Rhabdomyosarcoma, also known as adult pleomorphic rhabdomyosarcoma, is related to liposarcoma and rhabdomyosarcoma. An important gene associated with Pleomorphic Rhabdomyosarcoma is MYOD1 (Myogenic Differentiation 1), and among its related pathways/superpathways are Regulation of nuclear SMAD2/3 signaling and Transcriptional misregulation in cancer. The drugs Miconazole and Bevacizumab have been mentioned in the context of this disorder. Affiliated tissues include kidney, skeletal muscle and skin, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and Synthetic lethal with MLN4924 (a NAE inhibitor)

Related Diseases for Pleomorphic Rhabdomyosarcoma

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

(show top 50) (show all 73)
# Related Disease Score Top Affiliating Genes
1 liposarcoma 30.1 MB TP53
2 rhabdomyosarcoma 29.9 FOXO1 MB MYOD1 PAX3 PAX7 TP53
3 botryoid rhabdomyosarcoma 29.9 MB MYOD1 PAX3
4 histiocytoma 29.8 MB MYOD1 TP53
5 rhabdomyosarcoma 2 28.9 FOXO1 MB MYOD1 PAX3 PAX7
6 childhood pleomorphic rhabdomyosarcoma 12.3
7 mesenchymoma 10.2 MB MYOD1
8 malignant triton tumor 10.2 MB MYOD1
9 spindle cell rhabdomyosarcoma 10.2 MB MYOD1
10 adult fibrosarcoma 10.2 MB MYOD1
11 gas gangrene 10.2 MB MYOD1
12 meninges sarcoma 10.2 MB TP53
13 sclerosing liposarcoma 10.1 MB TP53
14 leiomyosarcoma 10.1 MB TP53
15 pleuropulmonary blastoma 10.1 MB TP53
16 alveolar soft part sarcoma 10.1 MB MYOD1
17 inflammatory leiomyosarcoma 10.1 MYOD1 PAX7
18 embryonal sarcoma 10.1 MYOD1 TP53
19 conventional leiomyosarcoma 10.1 MYOD1 PAX7
20 muscle tissue disease 10.1 MB MYOD1
21 myxosarcoma 10.1 MB TP53
22 colorectal cancer 10.1
23 rhabdoid tumor predisposition syndrome 1 10.1 MYOD1 TP53
24 childhood kidney cell carcinoma 10.1 FOXO1 PAX3
25 soft tissue sarcoma 10.0 FOXO1 TP53
26 brain glioma 10.0 PAX3 TP53
27 breast rhabdomyosarcoma 10.0 FOXO1 MB MYOD1
28 rhabdoid cancer 10.0 MB MYOD1 TP53
29 medullomyoblastoma 9.9 MB MYOD1 TP53
30 malignant mesenchymoma 9.9 MB MYOD1 TP53
31 intussusception 9.9
32 bile duct cysts 9.9
33 thrombocytopenia 9.9
34 inguinal hernia 9.9
35 acute cystitis 9.9
36 obstructive jaundice 9.9
37 malignant fibroxanthoma 9.9
38 melanoma 9.9
39 lynch syndrome 9.9
40 fibrous histiocytoma 9.9
41 pleomorphic liposarcoma 9.9
42 skin melanoma 9.9
43 pulmonary embolism 9.9
44 rere-related disorders 9.9
45 undifferentiated pleomorphic sarcoma 9.9
46 cytomegalovirus infection 9.9
47 nephrogenic adenofibroma 9.9 MME MYOD1
48 sarcomatoid squamous cell skin carcinoma 9.9 MB MME
49 cervical carcinosarcoma 9.9 MME TP53
50 carcinosarcoma 9.9 MME TP53

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



Diseases related to Pleomorphic Rhabdomyosarcoma

Symptoms & Phenotypes for Pleomorphic Rhabdomyosarcoma

GenomeRNAi Phenotypes related to Pleomorphic 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 9.53 FOXO1 PAX3 PAX7 TP53
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.53 FOXO1 PAX3 PAX7 TP53

MGI Mouse Phenotypes related to Pleomorphic Rhabdomyosarcoma:

47 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.93 FOXO1 MB MYOD1 PAX3 PAX7 TP53
2 cardiovascular system MP:0005385 9.91 FOXO1 MB MYOD1 PAX3 TP53
3 homeostasis/metabolism MP:0005376 9.91 FOXO1 MB MME MYOD1 PAX3 TP53
4 embryo MP:0005380 9.88 FOXO1 MB PAX3 PAX7 TP53
5 muscle MP:0005369 9.85 FOXO1 MB MYOD1 PAX3 PAX7 TP53
6 craniofacial MP:0005382 9.8 FOXO1 PAX3 PAX7 TP53
7 neoplasm MP:0002006 9.72 FOXO1 MYOD1 PAX3 PAX7 TP53
8 liver/biliary system MP:0005370 9.71 FOXO1 MME PAX3 TP53
9 no phenotypic analysis MP:0003012 9.65 FOXO1 MYOD1 PAX3 PAX7 TP53
10 normal MP:0002873 9.55 FOXO1 MYOD1 PAX3 PAX7 TP53
11 respiratory system MP:0005388 9.35 MB MYOD1 PAX3 PAX7 TP53
12 skeleton MP:0005390 9.02 FOXO1 MYOD1 PAX3 PAX7 TP53

Drugs & Therapeutics for Pleomorphic Rhabdomyosarcoma

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

(show all 37)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
2
Bevacizumab Approved, Investigational Phase 2 216974-75-3
3
Everolimus Approved Phase 2 159351-69-6 70789204 6442177
4
Sirolimus Approved, Investigational Phase 2 53123-88-9 46835353 5284616 6436030
5
Vinorelbine Approved, Investigational Phase 2 71486-22-1 44424639 60780
6
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
7
Doxorubicin Approved, Investigational Phase 2,Phase 1 23214-92-8 31703
8
Ifosfamide Approved Phase 2 3778-73-2 3690
9
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
10
Mesna Approved, Investigational Phase 2 3375-50-6 598
11
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563
12
Epirubicin Approved Phase 2 56420-45-2 41867
13
Emodepside Investigational, Vet_approved Phase 2 155030-63-0
14
Doxil Approved June 1999 Phase 2,Phase 1 31703
15 Antineoplastic Agents, Phytogenic Phase 2
16 Antimitotic Agents Phase 2
17 Immunoglobulins Phase 2,Phase 1
18 Immunoglobulin G Phase 2
19 Alkylating Agents Phase 2
20 Immunologic Factors Phase 2
21 Antineoplastic Agents, Alkylating Phase 2
22 Endothelial Growth Factors Phase 2
23 Mitogens Phase 2
24 Anti-Infective Agents Phase 2
25 Angiogenesis Inhibitors Phase 2
26 Antirheumatic Agents Phase 2
27 Antibiotics, Antitubercular Phase 2,Phase 1
28 Antibodies, Monoclonal Phase 2,Phase 1
29 Antifungal Agents Phase 2
30 Antineoplastic Agents, Immunological Phase 2
31 Angiogenesis Modulating Agents Phase 2
32 Anti-Bacterial Agents Phase 2,Phase 1
33 Immunosuppressive Agents Phase 2
34 Antibodies Phase 2,Phase 1
35 Topoisomerase Inhibitors Phase 2,Phase 1
36
Isophosphamide mustard Phase 2 0
37 Protein Kinase Inhibitors Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 Hypofractionated Radiotherapy With Sequential Chemotherapy in Primary Unresectable or Marginally Resectable Soft Tissue Sarcomas of Extremities or Trunk Wall Recruiting NCT03651375 Phase 2 Sequential chemotherapy - 3 courses of AI
3 Sorafenib Tosylate, Combination Chemotherapy, Radiation Therapy, and Surgery in Treating Patients With High-Risk Stage IIB-IV Soft Tissue Sarcoma Active, not recruiting NCT02050919 Phase 2 Epirubicin Hydrochloride;Ifosfamide;Sorafenib Tosylate
4 Cixutumumab and Doxorubicin Hydrochloride in Treating Patients With Unresectable, Locally Advanced, or Metastatic Soft Tissue Sarcoma Completed NCT00720174 Phase 1 Doxorubicin Hydrochloride
5 Ribociclib and Doxorubicin in Treating Patients With Metastatic or Advanced Soft Tissue Sarcomas That Cannot Be Removed by Surgery Recruiting NCT03009201 Phase 1 Doxorubicin;Ribociclib

Search NIH Clinical Center for Pleomorphic Rhabdomyosarcoma

Genetic Tests for Pleomorphic Rhabdomyosarcoma

Anatomical Context for Pleomorphic Rhabdomyosarcoma

MalaCards organs/tissues related to Pleomorphic Rhabdomyosarcoma:

42
Kidney, Skeletal Muscle, Skin, Endothelial, Uterus, Bone, Heart

Publications for Pleomorphic Rhabdomyosarcoma

Articles related to Pleomorphic Rhabdomyosarcoma:

(show top 50) (show all 94)
# Title Authors Year
1
Primary cutaneous pleomorphic rhabdomyosarcoma in the periocular region. ( 29282833 )
2019
2
Pleomorphic rhabdomyosarcoma metastasis to small intestine causing intussusception: A case report. ( 30572480 )
2018
3
Rapidly growing massive pleomorphic rhabdomyosarcoma of the bladder presenting with bladder outlet obstruction. ( 26381078 )
2018
4
Pleomorphic rhabdomyosarcoma of the liver with a hepatic cyst in an adult: Case report and literature review. ( 30024506 )
2018
5
Chemoresistant pleomorphic rhabdomyosarcoma: whole exome sequencing reveals underlying cancer predisposition and therapeutic options. ( 30352869 )
2018
6
Case of pleomorphic rhabdomyosarcoma arising on subcutaneous tissue in an adult patient: Review of the published works of 13 cases arising on cutaneous or subcutaneous tissue. ( 27569112 )
2017
7
Pleomorphic rhabdomyosarcoma arising in the anterior mediastinum: A case report with cytological features of imprint and liquid-based cytology specimens. ( 28024111 )
2017
8
Successful treatment of adult pleomorphic rhabdomyosarcoma with bone invasion in the lower leg by chemotherapy and biological reconstruction: A case report. ( 28356215 )
2017
9
Pleomorphic Rhabdomyosarcoma of the Uterus - Case Report and a Systematic Review of the Literature. ( 28476820 )
2017
10
Pleomorphic rhabdomyosarcoma infiltrating thoracic spine in a 59-year-old female patient: Case report. ( 28868225 )
2017
11
Temozolomide combined with irinotecan caused regression in an adult pleomorphic rhabdomyosarcoma patient-derived orthotopic xenograft (PDOX) nude-mouse model. ( 29100276 )
2017
12
Pleomorphic rhabdomyosarcoma with an impressive response to chemotherapy: case report and review of the literature. ( 26952562 )
2016
13
Primary Pleomorphic Rhabdomyosarcoma of Thyroid Gland in an Adult Patient: A Case Report. ( 27026769 )
2016
14
Pleomorphic rhabdomyosarcoma of the left atrium mimicking myxoma. ( 27510683 )
2016
15
Misdiagnosis of primary pleomorphic rhabdomyosarcoma of the right thigh in a young adult: A case report. ( 27588141 )
2016
16
Pleomorphic Rhabdomyosarcoma Arising from True Vocal Fold of Larynx: Report of a Rare Case and Literature Review. ( 27699075 )
2016
17
Cutaneous Pleomorphic Rhabdomyosarcoma Occurring on Sun-Damaged Skin: A Case Report. ( 25140666 )
2015
18
Pleomorphic rhabdomyosarcoma presenting as a hypopharyngeal mass. ( 25243978 )
2015
19
Pelvic pleomorphic rhabdomyosarcoma presenting as oliguria in a 61-year-old woman. ( 25880675 )
2015
20
Pancreatic pleomorphic rhabdomyosarcoma. ( 26092712 )
2015
21
Adult Pleomorphic Rhabdomyosarcoma: A Multicentre Retrospective Study. ( 26504053 )
2015
22
Postradiation cutaneous pleomorphic rhabdomyosarcoma with extracellular collagen deposits reminiscent of so-called amianthoid fibers. ( 24341853 )
2014
23
Primary pleomorphic rhabdomyosarcoma of the adrenal gland in an adult: A case report. ( 24348835 )
2014
24
Pleomorphic rhabdomyosarcoma of the cerebellopontine angle in an adult: a review of literature. ( 24481021 )
2014
25
Primary pleomorphic rhabdomyosarcoma of breast: Report of a rare neoplasm. ( 25709664 )
2014
26
Adult Duodenal Pleomorphic Rhabdomyosarcoma. ( 26157890 )
2014
27
Pleomorphic rhabdomyosarcoma in a patient with hereditary nonpolyposis colorectal cancer. ( 23319697 )
2013
28
Paratesticular pleomorphic rhabdomyosarcoma: a report of two cases. ( 23476881 )
2013
29
A pleomorphic rhabdomyosarcoma mimicking an inguinal hernia: a case report and review of the literature. ( 22611365 )
2012
30
Multiple sites of highly amplified DNA sequences detected by molecular cytogenetic analysis in HS-RMS-2, a new pleomorphic rhabdomyosarcoma cell line. ( 22432055 )
2012
31
Pleomorphic rhabdomyosarcoma with pulmonary tumour embolism. ( 23203178 )
2012
32
Uterine pleomorphic rhabdomyosarcoma: a case report and review of literature. ( 21476391 )
2011
33
A rare case of paratesticular pleomorphic rhabdomyosarcoma diagnosed by fine needle aspiration: a case report. ( 19790247 )
2010
34
Pleomorphic rhabdomyosarcoma showing smooth-muscle and fibrohistiocytic differentiation: a single case report. ( 20070153 )
2010
35
Pleomorphic rhabdomyosarcoma of the uterine corpus: a clinicopathologic study of 4 cases and a review of the literature. ( 20173498 )
2010
36
Electrochemotherapy treatment for bilateral pleomorphic rhabdomyosarcoma in a cat. ( 20492454 )
2010
37
p53 mutation and loss have different effects on tumourigenesis in a novel mouse model of pleomorphic rhabdomyosarcoma. ( 20662002 )
2010
38
Pleomorphic rhabdomyosarcoma of the uterine corpus--a case report. ( 20825058 )
2010
39
Touch preparation of primary uterine pleomorphic rhabdomyosarcoma: report of a case with clinical cytopathologic features. ( 21053592 )
2010
40
Primary pleomorphic rhabdomyosarcoma of trunk in an adolescent. ( 19317765 )
2009
41
Cytogenetic and real-time quantitative reverse-transcriptase polymerase chain reaction analyses in pleomorphic rhabdomyosarcoma. ( 19480930 )
2009
42
Surgical management of an inoperable giant pleomorphic rhabdomyosarcoma of the chest wall. ( 19704344 )
2009
43
Pleomorphic rhabdomyosarcoma pulmonary embolism. ( 19713348 )
2009
44
Primary mediastinal pleomorphic rhabdomyosarcoma: a case report. ( 18287801 )
2008
45
A rare tumor of the diaphragm: pleomorphic rhabdomyosarcoma. ( 18442596 )
2008
46
Primary pleomorphic rhabdomyosarcoma of the kidney in an adult. ( 18621001 )
2008
47
A case of extremely chemoresistant pure pleomorphic rhabdomyosarcoma of the uterus associated with a high serum LDH level. ( 19051826 )
2008
48
Palpebral pleomorphic rhabdomyosarcoma in a teenager. ( 16946759 )
2007
49
Laryngeal pleomorphic rhabdomyosarcoma. ( 17481838 )
2007
50
Pleomorphic rhabdomyosarcoma within a choledochal cyst; a rare cause of obstructive jaundice. ( 16967793 )
2006

Variations for Pleomorphic Rhabdomyosarcoma

Expression for Pleomorphic Rhabdomyosarcoma

Search GEO for disease gene expression data for Pleomorphic Rhabdomyosarcoma.

Pathways for Pleomorphic Rhabdomyosarcoma

Pathways related to Pleomorphic Rhabdomyosarcoma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.25 FOXO1 MYOD1
2 11.19 FOXO1 PAX3 PAX7 TP53
3 11.07 MYOD1 PAX3
4 10.99 FOXO1 TP53
5 10.72 FOXO1 MYOD1 TP53
6 10.71 MYOD1 PAX7

GO Terms for Pleomorphic Rhabdomyosarcoma

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

# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.72 FOXO1 MYOD1 PAX3 PAX7 TP53
2 multicellular organism development GO:0007275 9.71 MYOD1 PAX3 PAX7 TP53
3 positive regulation of transcription, DNA-templated GO:0045893 9.56 FOXO1 MYOD1 PAX3 TP53
4 cellular response to starvation GO:0009267 9.43 FOXO1 MYOD1
5 skeletal muscle tissue development GO:0007519 9.37 MYOD1 PAX7
6 positive regulation of transcription by RNA polymerase II GO:0045944 9.35 FOXO1 MYOD1 PAX3 PAX7 TP53
7 replicative senescence GO:0090399 9.16 MME TP53
8 muscle organ development GO:0007517 8.8 MYOD1 PAX3 PAX7

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.83 FOXO1 MYOD1 PAX3 PAX7 TP53
2 chromatin binding GO:0003682 9.63 FOXO1 MYOD1 TP53
3 transcription factor binding GO:0008134 9.58 FOXO1 MYOD1 TP53
4 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.55 FOXO1 MYOD1 PAX3 PAX7 TP53
5 ubiquitin protein ligase binding GO:0031625 9.5 FOXO1 MYOD1 TP53
6 promoter-specific chromatin binding GO:1990841 9.37 MYOD1 TP53
7 protein phosphatase 2A binding GO:0051721 9.26 FOXO1 TP53
8 sequence-specific DNA binding GO:0043565 9.26 FOXO1 MYOD1 PAX3 PAX7
9 DNA-binding transcription factor activity GO:0003700 9.02 FOXO1 MYOD1 PAX3 PAX7 TP53

Sources for Pleomorphic Rhabdomyosarcoma

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