MCID: PLM030
MIFTS: 41

Pleomorphic Rhabdomyosarcoma

Categories: Cancer diseases, Muscle diseases, Rare diseases

Aliases & Classifications for Pleomorphic Rhabdomyosarcoma

MalaCards integrated aliases for Pleomorphic Rhabdomyosarcoma:

Name: Pleomorphic Rhabdomyosarcoma 12 59 15 73
Adult Pleomorphic Rhabdomyosarcoma 12 15 73
Pleomorphic Rhabdomyosarcoma, Adult Type 12
Anaplastic Rhabdomyosarcoma 12

Characteristics:

Orphanet epidemiological data:

59
pleomorphic rhabdomyosarcoma
Prevalence: <1/1000000 (Europe);

Classifications:



External Ids:

Disease Ontology 12 DOID:3250 DOID:8251
NCIt 50 C4258 C27369
SNOMED-CT 68 77455004
Orphanet 59 ORPHA293199
UMLS via Orphanet 74 C0334480
ICD10 via Orphanet 34 C49.9

Summaries for Pleomorphic Rhabdomyosarcoma

MalaCards based summary : Pleomorphic Rhabdomyosarcoma, also known as adult pleomorphic rhabdomyosarcoma, is related to rhabdomyosarcoma and histiocytoma. An important gene associated with Pleomorphic Rhabdomyosarcoma is MYOD1 (Myogenic Differentiation 1), and among its related pathways/superpathways are Neural Crest Differentiation and TGF-beta Signaling Pathways. The drugs Vinblastine and Sirolimus have been mentioned in the context of this disorder. Affiliated tissues include uterus, kidney and liver, and related phenotypes are muscle and embryo

Related Diseases for Pleomorphic Rhabdomyosarcoma

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

(show all 47)
# Related Disease Score Top Affiliating Genes
1 rhabdomyosarcoma 30.4 FOXO1 MB MYOD1 PAX3 PAX7
2 histiocytoma 29.8 MB MYOD1
3 botryoid rhabdomyosarcoma 29.7 MB MYOD1 PAX3
4 rhabdomyosarcoma 2 28.9 FOXO1 MB MYOD1 PAX3 PAX7
5 childhood pleomorphic rhabdomyosarcoma 12.2
6 malignant triton tumor 10.1 MB MYOD1
7 mesenchymoma 10.1 MB MYOD1
8 spindle cell rhabdomyosarcoma 10.1 MB MYOD1
9 adult fibrosarcoma 10.1 MB MYOD1
10 rhabdoid cancer 10.1 MB MYOD1
11 gas gangrene 10.1 MB MYOD1
12 colorectal cancer 10.1
13 medullomyoblastoma 10.1 MB MYOD1
14 malignant mesenchymoma 10.0 MB MYOD1
15 adenosarcoma 10.0 MB MME
16 sarcomatoid squamous cell skin carcinoma 10.0 MB MME
17 nephrogenic adenofibroma 10.0 MME MYOD1
18 mixed cell type cancer 10.0 MB MME
19 alveolar soft part sarcoma 10.0 MB MYOD1
20 muscle tissue disease 10.0 MB MYOD1
21 uterine sarcoma 10.0 MB MME
22 childhood kidney cell carcinoma 10.0 FOXO1 PAX3
23 inflammatory leiomyosarcoma 10.0 MYOD1 PAX7
24 conventional leiomyosarcoma 10.0 MYOD1 PAX7
25 bile duct cysts 9.9
26 thrombocytopenia 9.9
27 inguinal hernia 9.9
28 acute cystitis 9.9
29 obstructive jaundice 9.9
30 malignant fibroxanthoma 9.9
31 melanoma 9.9
32 liposarcoma 9.9
33 fibrous histiocytoma 9.9
34 pleomorphic liposarcoma 9.9
35 skin melanoma 9.9
36 pulmonary embolism 9.9
37 cytomegalovirus infection 9.9
38 endometrial stromal sarcoma 9.9 MB MME
39 breast rhabdomyosarcoma 9.9 FOXO1 MB MYOD1
40 myositis 9.9 MB MYOD1
41 cellular schwannoma 9.8 PAX3 PAX7
42 central nervous system mesenchymal non-meningothelial tumor 9.5 FOXO1 MYOD1 PAX3 PAX7
43 ewing sarcoma 9.5 FOXO1 MYOD1 PAX3 PAX7
44 muscle cancer 9.4 FOXO1 MB MYOD1 PAX3 PAX7
45 embryonal rhabdomyosarcoma 9.4 FOXO1 MB MYOD1 PAX3 PAX7
46 skeletal muscle cancer 9.4 FOXO1 MB MYOD1 PAX3 PAX7
47 muscular disease 9.4 FOXO1 MB MYOD1 PAX3 PAX7

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



Diseases related to Pleomorphic Rhabdomyosarcoma

Symptoms & Phenotypes for Pleomorphic Rhabdomyosarcoma

MGI Mouse Phenotypes related to Pleomorphic Rhabdomyosarcoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.65 FOXO1 MB MYOD1 PAX3 PAX7
2 embryo MP:0005380 9.62 FOXO1 MB PAX3 PAX7
3 neoplasm MP:0002006 9.46 FOXO1 MYOD1 PAX3 PAX7
4 no phenotypic analysis MP:0003012 9.26 FOXO1 MYOD1 PAX3 PAX7
5 respiratory system MP:0005388 8.92 MB MYOD1 PAX3 PAX7

Drugs & Therapeutics for Pleomorphic Rhabdomyosarcoma

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

(show all 47)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vinblastine Approved Phase 2 865-21-4 241903 13342
2
Sirolimus Approved, Investigational Phase 2 53123-88-9 46835353 6436030 5284616
3
Bevacizumab Approved, Investigational Phase 2 216974-75-3
4
Everolimus Approved Phase 2 159351-69-6 6442177
5
Cyclophosphamide Approved, Investigational Phase 2 6055-19-2, 50-18-0 2907
6
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
7
Vinorelbine Approved, Investigational Phase 2 71486-22-1 60780 44424639
8
Doxorubicin Approved, Investigational Phase 2,Phase 1 23214-92-8 31703
9
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
10
Mesna Approved, Investigational Phase 2 3375-50-6 598
11
Ifosfamide Approved Phase 2 3778-73-2 3690
12
Nicotinamide Approved, Investigational Phase 2 98-92-0 936
13
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563
14
Epirubicin Approved Phase 2 56420-45-2 41867
15
Niacin Approved, Investigational, Nutraceutical Phase 2 59-67-6 938
16
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
17
Doxil Approved June 1999 Phase 2,Phase 1 31703
18 Antibodies Phase 2,Phase 1
19 Anti-Infective Agents Phase 2
20 Immunologic Factors Phase 2
21 Antineoplastic Agents, Phytogenic Phase 2
22 Antibiotics, Antitubercular Phase 2,Phase 1
23 Immunoglobulin G Phase 2
24 Alkylating Agents Phase 2
25 Antimitotic Agents Phase 2
26 Angiogenesis Modulating Agents Phase 2
27 Anti-Bacterial Agents Phase 2,Phase 1
28 Immunosuppressive Agents Phase 2
29 Antifungal Agents Phase 2
30 Immunoglobulins Phase 2,Phase 1
31 Antirheumatic Agents Phase 2
32 Antibodies, Monoclonal Phase 2,Phase 1
33 Mitogens Phase 2
34 Endothelial Growth Factors Phase 2
35 Antineoplastic Agents, Alkylating Phase 2
36 Angiogenesis Inhibitors Phase 2
37 Topoisomerase Inhibitors Phase 2,Phase 1
38
Isophosphamide mustard Phase 2 0
39 Nicotinic Acids Phase 2
40 Vitamins Phase 2
41 Vitamin B9 Phase 2
42 Trace Elements Phase 2
43 Micronutrients Phase 2
44 Vitamin B3 Phase 2
45 Folate Phase 2
46 Vitamin B Complex Phase 2
47 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:

41
Uterus, Kidney, Liver, Bone, Heart, Skin, Skeletal Muscle

Publications for Pleomorphic Rhabdomyosarcoma

Articles related to Pleomorphic Rhabdomyosarcoma:

(show top 50) (show all 91)
# Title Authors Year
1
Pleomorphic rhabdomyosarcoma of the liver with a hepatic cyst in an adult: Case report and literature review. ( 30024506 )
2018
2
Chemoresistant pleomorphic rhabdomyosarcoma: whole exome sequencing reveals underlying cancer predisposition and therapeutic options. ( 30352869 )
2018
3
Temozolomide combined with irinotecan caused regression in an adult pleomorphic rhabdomyosarcoma patient-derived orthotopic xenograft (PDOX) nude-mouse model. ( 29100276 )
2017
4
Pleomorphic Rhabdomyosarcoma of the Uterus - Case Report and a Systematic Review of the Literature. ( 28476820 )
2017
5
Pleomorphic rhabdomyosarcoma infiltrating thoracic spine in a 59-year-old female patient: Case report. ( 28868225 )
2017
6
Successful treatment of adult pleomorphic rhabdomyosarcoma with bone invasion in the lower leg by chemotherapy and biological reconstruction: A case report. ( 28356215 )
2017
7
Primary cutaneous pleomorphic rhabdomyosarcoma in the periocular region. ( 29282833 )
2017
8
Primary Pleomorphic Rhabdomyosarcoma of Thyroid Gland in an Adult Patient: A Case Report. ( 27026769 )
2016
9
Misdiagnosis of primary pleomorphic rhabdomyosarcoma of the right thigh in a young adult: A case report. ( 27588141 )
2016
10
Pleomorphic Rhabdomyosarcoma Arising from True Vocal Fold of Larynx: Report of a Rare Case and Literature Review. ( 27699075 )
2016
11
Pleomorphic rhabdomyosarcoma of the left atrium mimicking myxoma. ( 27510683 )
2016
12
Pleomorphic rhabdomyosarcoma with an impressive response to chemotherapy: case report and review of the literature. ( 26952562 )
2016
13
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 )
2016
14
Pleomorphic rhabdomyosarcoma arising in the anterior mediastinum: A case report with cytological features of imprint and liquid-based cytology specimens. ( 28024111 )
2016
15
Adult Pleomorphic Rhabdomyosarcoma: A Multicentre Retrospective Study. ( 26504053 )
2015
16
Pancreatic pleomorphic rhabdomyosarcoma. ( 26092712 )
2015
17
Pelvic pleomorphic rhabdomyosarcoma presenting as oliguria in a 61-year-old woman. ( 25880675 )
2015
18
Rapidly growing massive pleomorphic rhabdomyosarcoma of the bladder presenting with bladder outlet obstruction. ( 26381078 )
2015
19
Pleomorphic Rhabdomyosarcoma Presenting as a Hypopharyngeal Mass. ( 25243978 )
2014
20
Cutaneous Pleomorphic Rhabdomyosarcoma Occurring on Sun Damaged Skin: A Case Report. ( 25140666 )
2014
21
Pleomorphic rhabdomyosarcoma of the cerebellopontine angle in an adult: a review of literature. ( 24481021 )
2014
22
Adult Duodenal Pleomorphic Rhabdomyosarcoma. ( 26157890 )
2014
23
Primary pleomorphic rhabdomyosarcoma of the adrenal gland in an adult: A case report. ( 24348835 )
2014
24
Primary pleomorphic rhabdomyosarcoma of breast: Report of a rare neoplasm. ( 25709664 )
2014
25
Pleomorphic rhabdomyosarcoma in a patient with hereditary nonpolyposis colorectal cancer. ( 23319697 )
2013
26
Postradiation cutaneous pleomorphic rhabdomyosarcoma with extracellular collagen deposits reminiscent of so-called amianthoid fibers. ( 24341853 )
2013
27
Paratesticular pleomorphic rhabdomyosarcoma: a report of two cases. ( 23476881 )
2013
28
Pleomorphic rhabdomyosarcoma with pulmonary tumour embolism. ( 23203178 )
2012
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
Uterine pleomorphic rhabdomyosarcoma: a case report and review of literature. ( 21476391 )
2011
32
Pleomorphic rhabdomyosarcoma of the uterine corpus--a case report. ( 20825058 )
2010
33
Electrochemotherapy treatment for bilateral pleomorphic rhabdomyosarcoma in a cat. ( 20492454 )
2010
34
A rare case of paratesticular pleomorphic rhabdomyosarcoma diagnosed by fine needle aspiration: a case report. ( 19790247 )
2010
35
Pleomorphic rhabdomyosarcoma showing smooth-muscle and fibrohistiocytic differentiation: a single case report. ( 20070153 )
2010
36
p53 mutation and loss have different effects on tumourigenesis in a novel mouse model of pleomorphic rhabdomyosarcoma. ( 20662002 )
2010
37
Touch preparation of primary uterine pleomorphic rhabdomyosarcoma: report of a case with clinical cytopathologic features. ( 21053592 )
2010
38
Surgical management of an inoperable giant pleomorphic rhabdomyosarcoma of the chest wall. ( 19704344 )
2009
39
Pleomorphic rhabdomyosarcoma pulmonary embolism. ( 19713348 )
2009
40
Cytogenetic and real-time quantitative reverse-transcriptase polymerase chain reaction analyses in pleomorphic rhabdomyosarcoma. ( 19480930 )
2009
41
Primary pleomorphic rhabdomyosarcoma of trunk in an adolescent. ( 19317765 )
2009
42
Primary pleomorphic rhabdomyosarcoma of the kidney in an adult. ( 18621001 )
2008
43
Primary mediastinal pleomorphic rhabdomyosarcoma: a case report. ( 18287801 )
2008
44
A case of extremely chemoresistant pure pleomorphic rhabdomyosarcoma of the uterus associated with a high serum LDH level. ( 19051826 )
2008
45
A rare tumor of the diaphragm: pleomorphic rhabdomyosarcoma. ( 18442596 )
2008
46
Palpebral pleomorphic rhabdomyosarcoma in a teenager. ( 16946759 )
2007
47
Laryngeal pleomorphic rhabdomyosarcoma. ( 17481838 )
2007
48
Botryoid-type pleomorphic rhabdomyosarcoma of the renal pelvis in an adult. A rare case report and review of the literature. ( 16825824 )
2006
49
Pleomorphic rhabdomyosarcoma within a choledochal cyst; a rare cause of obstructive jaundice. ( 16967793 )
2006
50
Unusual manifestations of disseminated neoplasia at presentation: right-sided heart failure due to a massive cardiac metastasis and autoimmune thrombocytopenia in pleomorphic rhabdomyosarcoma of the adult. ( 16462513 )
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 11.41 PAX3 PAX7
2 11.35 FOXO1 MYOD1
3 11.21 FOXO1 MYOD1
4 11.07 FOXO1 PAX3 PAX7
5 11 MYOD1 PAX3
6 10.75 FOXO1 MYOD1
7 10.51 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 9.62 FOXO1 MYOD1 PAX3 PAX7
2 positive regulation of transcription, DNA-templated GO:0045893 9.54 FOXO1 MYOD1 PAX3
3 cellular response to starvation GO:0009267 9.26 FOXO1 MYOD1
4 positive regulation of transcription by RNA polymerase II GO:0045944 9.26 FOXO1 MYOD1 PAX3 PAX7
5 skeletal muscle tissue development GO:0007519 9.16 MYOD1 PAX7
6 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 transcription factor activity, RNA polymerase II-specific GO:0000981 9.46 FOXO1 MYOD1 PAX3 PAX7
2 DNA-binding transcription factor activity GO:0003700 9.26 FOXO1 MYOD1 PAX3 PAX7
3 sequence-specific DNA binding GO:0043565 8.92 FOXO1 MYOD1 PAX3 PAX7

Sources for Pleomorphic Rhabdomyosarcoma

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