MCID: PLM030
MIFTS: 38

Pleomorphic Rhabdomyosarcoma

Categories: Rare diseases, Cancer diseases

Aliases & Classifications for Pleomorphic Rhabdomyosarcoma

MalaCards integrated aliases for Pleomorphic Rhabdomyosarcoma:

Name: Pleomorphic Rhabdomyosarcoma 12 56 14 69
Adult Pleomorphic Rhabdomyosarcoma 12 14 69
Pleomorphic Rhabdomyosarcoma, Adult Type 12
Anaplastic Rhabdomyosarcoma 12

Characteristics:

Orphanet epidemiological data:

56
pleomorphic rhabdomyosarcoma
Prevalence: <1/1000000 (Europe);

Classifications:



External Ids:

Disease Ontology 12 DOID:3250 DOID:8251
NCIt 47 C4258 C27369
SNOMED-CT 64 404054005 77455004
Orphanet 56 ORPHA293199
UMLS via Orphanet 70 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 histiocytoma and childhood pleomorphic rhabdomyosarcoma. An important gene associated with Pleomorphic Rhabdomyosarcoma is MYOD1 (Myogenic Differentiation 1), and among its related pathways/superpathways are Transcriptional misregulation in cancer and Neural Crest Differentiation. The drugs Vincristine and Etoposide have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and endothelial, and related phenotypes are muscle and neoplasm

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 70)
id Related Disease Score Top Affiliating Genes
1 histiocytoma 28.7 MB MME TP53
2 childhood pleomorphic rhabdomyosarcoma 11.9
3 rhabdomyosarcoma 10.7
4 bile duct sarcoma 10.4 MB MYOD1
5 spleen cancer 10.4 MB MYOD1
6 transitional cell carcinoma 10.4 MB MYOD1
7 mucinous ovarian cystadenoma 10.4 MB MYOD1
8 lateral medullary syndrome 10.4 MB MYOD1
9 glomerulonephritis 10.4 MB MYOD1
10 cowper gland carcinoma 10.3 MB TP53
11 fallopian tube squamous cell carcinoma 10.3 MB TP53
12 vulvar liposarcoma 10.3 MB TP53
13 enamel hypoplasia cataract hydrocephaly 10.2 MYOD1 TP53
14 cerebrum cancer 10.2 MB MYOD1
15 granular cell leiomyosarcoma 10.2 MYOD1 PAX7
16 goiter, multinodular 1, with or without sertoli-leydig cell tumors 10.2 MB TP53
17 colon leiomyosarcoma 10.2 MYOD1 PAX7
18 biliary dyskinesia 10.2 MB TP53
19 46xy sex reversal 5 10.2 MB MYOD1
20 eosinophilic variant of chromophobe renal cell carcinoma 10.2 MB MYOD1
21 ascaridiasis 10.2 PAX3 TP53
22 adenosarcoma 10.0 MB TP53
23 accessory nerve disease 9.9 MB TP53
24 rectal neoplasm 9.9 MB MME
25 laryngitis 9.9
26 nodular tenosynovitis 9.9 MME MYOD1
27 endodermal sinus tumor 9.9 MB MYOD1 TP53
28 ovarian mesodermal adenosarcoma 9.9 MME TP53
29 melanotic medulloblastoma 9.9 MB MYOD1 TP53
30 ischemia 9.9 MB MYOD1 PAX3
31 lung clear cell-sugar-tumor 9.9 MB MYOD1 TP53
32 extracranial neuroblastoma 9.9 MME TP53
33 spindle cell sarcoma 9.9 MB MYOD1 TP53
34 vagina, absence of 9.9 MB MME
35 hepatic osteogenic sarcoma 9.9 MME TP53
36 organ system benign neoplasm 9.9 MME TP53
37 cartilage cancer 9.9 MME TP53
38 colorectal cancer 9.8
39 lacrimal gland mucoepidermoid carcinoma 9.8 MME TP53
40 vulva adenocarcinoma 9.8 MME TP53
41 malignant melanocytic peripheral nerve sheath tumor of mediastinum 9.8 MME TP53
42 pineal parenchymal tumor of intermediate differentiation 9.7 MYOD1 PAX3 PAX7
43 vestibular gland benign neoplasm 9.7 MME TP53
44 thrombocytopenia 9.7
45 inguinal hernia 9.7
46 obstructive jaundice 9.7
47 melanoma 9.7
48 botryoid rhabdomyosarcoma 9.7
49 liposarcoma 9.7
50 fibrous histiocytoma 9.7

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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.65 MYOD1 PAX3 PAX7 TP53 MB
2 neoplasm MP:0002006 9.46 MYOD1 PAX3 PAX7 TP53
3 no phenotypic analysis MP:0003012 9.26 MYOD1 PAX3 PAX7 TP53
4 respiratory system MP:0005388 9.02 MB MYOD1 PAX3 PAX7 TP53

Drugs & Therapeutics for Pleomorphic Rhabdomyosarcoma

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

(show all 40)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vincristine Approved, Investigational Phase 3,Phase 2 2068-78-2, 57-22-7 5978
2
Etoposide Approved Phase 3,Phase 2 33419-42-0 36462
3
Carboplatin Approved Phase 3,Phase 2 41575-94-4 10339178 498142 38904
4
Cyclophosphamide Approved, Investigational Phase 3,Phase 2 50-18-0, 6055-19-2 2907
5
Ifosfamide Approved Phase 3,Phase 2 3778-73-2 3690
6
Dactinomycin Approved Phase 3,Phase 2 50-76-0 2019 457193
7
Epirubicin Approved Phase 3,Phase 2 56420-45-2 41867
8 Isophosphamide mustard Phase 3,Phase 2
9 Alkylating Agents Phase 3,Phase 2
10 Topoisomerase Inhibitors Phase 3,Phase 2,Phase 1
11 Nucleic Acid Synthesis Inhibitors Phase 3,Phase 2
12 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1
13 Anti-Infective Agents Phase 3,Phase 2
14 Etoposide phosphate Phase 3,Phase 2
15 Immunosuppressive Agents Phase 3,Phase 2
16 Antibiotics, Antitubercular Phase 3,Phase 2,Phase 1
17 Antirheumatic Agents Phase 3,Phase 2
18 Antimitotic Agents Phase 3,Phase 2
19 Antineoplastic Agents, Phytogenic Phase 3,Phase 2
20
Doxorubicin Approved, Investigational Phase 2,Phase 1 23214-92-8 31703
21
Vinblastine Approved Phase 2 865-21-4 13342 241903
22
Vinorelbine Approved, Investigational Phase 2 71486-22-1 60780 44424639
23
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
24
Everolimus Approved Phase 2 159351-69-6 6442177
25
Lenograstim Approved Phase 2 135968-09-1
26
Bevacizumab Approved, Investigational Phase 2 216974-75-3
27
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
28
Gemcitabine Approved Phase 2 95058-81-4 60750
29
Doxil Approved June 1999 Phase 2,Phase 1 31703
30 Mitogens Phase 2
31 Angiogenesis Inhibitors Phase 2
32 Angiogenesis Modulating Agents Phase 2
33 Endothelial Growth Factors Phase 2
34 Immunoglobulins Phase 2,Phase 1
35 Antibodies, Monoclonal Phase 2,Phase 1
36 Antifungal Agents Phase 2
37 Antibodies Phase 2,Phase 1
38 Antimetabolites Phase 2
39 Antimetabolites, Antineoplastic Phase 2
40 Antiviral Agents Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Surgery Followed by Chemotherapy in Treating Young Patients With Soft Tissue Sarcoma Completed NCT00002898 Phase 3 carboplatin;cyclophosphamide;epirubicin hydrochloride;etoposide;ifosfamide;vincristine sulfate
2 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
3 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
4 Vismodegib and Gamma-Secretase/Notch Signalling Pathway Inhibitor RO4929097 in Treating Patients With Advanced or Metastatic Sarcoma Completed NCT01154452 Phase 1, Phase 2 Gamma-Secretase Inhibitor RO4929097;Vismodegib
5 Gemcitabine Hydrochloride With or Without Pazopanib Hydrochloride in Treating Patients With Refractory Soft Tissue Sarcoma Recruiting NCT01532687 Phase 2 Gemcitabine Hydrochloride;Pazopanib Hydrochloride
6 Cixutumumab and Doxorubicin Hydrochloride in Treating Patients With Unresectable, Locally Advanced, or Metastatic Soft Tissue Sarcoma Completed NCT00720174 Phase 1 Doxorubicin Hydrochloride
7 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
8 DNA Tests in Detecting Disseminated Disease in Tumor, Blood, and Bone Marrow Samples From Patients With Rhabdomyosarcoma Completed NCT01419509

Search NIH Clinical Center for Pleomorphic Rhabdomyosarcoma

Genetic Tests for Pleomorphic Rhabdomyosarcoma

Anatomical Context for Pleomorphic Rhabdomyosarcoma

MalaCards organs/tissues related to Pleomorphic Rhabdomyosarcoma:

39
Bone, Testes, Endothelial, Bone Marrow, Uterus, Kidney, Skeletal Muscle

Publications for Pleomorphic Rhabdomyosarcoma

Articles related to Pleomorphic Rhabdomyosarcoma:

(show top 50) (show all 89)
id Title Authors Year
1
Pleomorphic Rhabdomyosarcoma of the Uterus - Case Report and a Systematic Review of the Literature. ( 28476820 )
2017
2
Successful treatment of adult pleomorphic rhabdomyosarcoma with bone invasion in the lower leg by chemotherapy and biological reconstruction: A case report. ( 28356215 )
2017
3
Pleomorphic rhabdomyosarcoma infiltrating thoracic spine in a 59-year-old female patient: Case report. ( 28868225 )
2017
4
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
5
Pleomorphic rhabdomyosarcoma arising in the anterior mediastinum: A case report with cytological features of imprint and liquid-based cytology specimens. ( 28024111 )
2016
6
Pleomorphic rhabdomyosarcoma of the left atrium mimicking myxoma. ( 27510683 )
2016
7
Misdiagnosis of primary pleomorphic rhabdomyosarcoma of the right thigh in a young adult: A case report. ( 27588141 )
2016
8
Primary Pleomorphic Rhabdomyosarcoma of Thyroid Gland in an Adult Patient: A Case Report. ( 27026769 )
2016
9
Pleomorphic rhabdomyosarcoma with an impressive response to chemotherapy: case report and review of the literature. ( 26952562 )
2016
10
Pleomorphic Rhabdomyosarcoma Arising from True Vocal Fold of Larynx: Report of a Rare Case and Literature Review. ( 27699075 )
2016
11
Adult Pleomorphic Rhabdomyosarcoma: A Multicentre Retrospective Study. ( 26504053 )
2015
12
Rapidly growing massive pleomorphic rhabdomyosarcoma of the bladder presenting with bladder outlet obstruction. ( 26381078 )
2015
13
Pancreatic pleomorphic rhabdomyosarcoma. ( 26092712 )
2015
14
Pelvic pleomorphic rhabdomyosarcoma presenting as oliguria in a 61-year-old woman. ( 25880675 )
2015
15
Adult Duodenal Pleomorphic Rhabdomyosarcoma. ( 26157890 )
2014
16
Cutaneous Pleomorphic Rhabdomyosarcoma Occurring on Sun Damaged Skin: A Case Report. ( 25140666 )
2014
17
Pleomorphic rhabdomyosarcoma of the cerebellopontine angle in an adult: a review of literature. ( 24481021 )
2014
18
Primary pleomorphic rhabdomyosarcoma of breast: Report of a rare neoplasm. ( 25709664 )
2014
19
Primary pleomorphic rhabdomyosarcoma of the adrenal gland in an adult: A case report. ( 24348835 )
2014
20
Pleomorphic Rhabdomyosarcoma Presenting as a Hypopharyngeal Mass. ( 25243978 )
2014
21
Pleomorphic rhabdomyosarcoma in a patient with hereditary nonpolyposis colorectal cancer. ( 23319697 )
2013
22
Paratesticular pleomorphic rhabdomyosarcoma: a report of two cases. ( 23476881 )
2013
23
Postradiation cutaneous pleomorphic rhabdomyosarcoma with extracellular collagen deposits reminiscent of so-called amianthoid fibers. ( 24341853 )
2013
24
Pleomorphic rhabdomyosarcoma with pulmonary tumour embolism. ( 23203178 )
2012
25
A pleomorphic rhabdomyosarcoma mimicking an inguinal hernia: a case report and review of the literature. ( 22611365 )
2012
26
Multiple sites of highly amplified DNA sequences detected by molecular cytogenetic analysis in HS-RMS-2, a new pleomorphic rhabdomyosarcoma cell line. ( 22432055 )
2012
27
Cytomegalovirus infection leads to pleomorphic rhabdomyosarcomas in Trp53+/- mice. ( 23002204 )
2012
28
Uterine pleomorphic rhabdomyosarcoma: a case report and review of literature. ( 21476391 )
2011
29
Electrochemotherapy treatment for bilateral pleomorphic rhabdomyosarcoma in a cat. ( 20492454 )
2010
30
A rare case of paratesticular pleomorphic rhabdomyosarcoma diagnosed by fine needle aspiration: a case report. ( 19790247 )
2010
31
p53 mutation and loss have different effects on tumourigenesis in a novel mouse model of pleomorphic rhabdomyosarcoma. ( 20662002 )
2010
32
Pleomorphic rhabdomyosarcoma showing smooth-muscle and fibrohistiocytic differentiation: a single case report. ( 20070153 )
2010
33
Touch preparation of primary uterine pleomorphic rhabdomyosarcoma: report of a case with clinical cytopathologic features. ( 21053592 )
2010
34
Pleomorphic rhabdomyosarcoma of the uterine corpus: a clinicopathologic study of 4 cases and a review of the literature. ( 20173498 )
2010
35
Pleomorphic rhabdomyosarcoma of the uterine corpus--a case report. ( 20825058 )
2010
36
Pleomorphic rhabdomyosarcoma pulmonary embolism. ( 19713348 )
2009
37
Surgical management of an inoperable giant pleomorphic rhabdomyosarcoma of the chest wall. ( 19704344 )
2009
38
Primary pleomorphic rhabdomyosarcoma of trunk in an adolescent. ( 19317765 )
2009
39
Cytogenetic and real-time quantitative reverse-transcriptase polymerase chain reaction analyses in pleomorphic rhabdomyosarcoma. ( 19480930 )
2009
40
Primary pleomorphic rhabdomyosarcoma of the kidney in an adult. ( 18621001 )
2008
41
A case of extremely chemoresistant pure pleomorphic rhabdomyosarcoma of the uterus associated with a high serum LDH level. ( 19051826 )
2008
42
A rare tumor of the diaphragm: pleomorphic rhabdomyosarcoma. ( 18442596 )
2008
43
Primary mediastinal pleomorphic rhabdomyosarcoma: a case report. ( 18287801 )
2008
44
Laryngeal pleomorphic rhabdomyosarcoma. ( 17481838 )
2007
45
Right atrial botryoid rhabdomyosarcoma in an adult patient with recurrent pleomorphic rhabdomyosarcomas following doxorubicin therapy. ( 17630111 )
2007
46
Palpebral pleomorphic rhabdomyosarcoma in a teenager. ( 16946759 )
2007
47
Cooperation of oncogenic K-ras and p53 deficiency in pleomorphic rhabdomyosarcoma development in adult mice. ( 16785989 )
2006
48
Novel genes implicated in embryonal, alveolar, and pleomorphic rhabdomyosarcoma: a cytogenetic and molecular analysis of primary tumors. ( 16790082 )
2006
49
Botryoid-type pleomorphic rhabdomyosarcoma of the renal pelvis in an adult. A rare case report and review of the literature. ( 16825824 )
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

GO Terms for Pleomorphic Rhabdomyosarcoma

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

id Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.62 MYOD1 PAX3 PAX7 TP53
2 positive regulation of transcription, DNA-templated GO:0045893 9.58 MYOD1 PAX3 TP53
3 transcription from RNA polymerase II promoter GO:0006366 9.54 MYOD1 PAX3 TP53
4 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.46 MYOD1 PAX3 PAX7 TP53
5 skeletal muscle tissue development GO:0007519 9.26 MYOD1 PAX7
6 replicative senescence GO:0090399 8.96 MME TP53
7 muscle organ development GO:0007517 8.8 MYOD1 PAX3 PAX7

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

id Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.13 MYOD1 PAX3 PAX7
2 transcription factor activity, sequence-specific DNA binding GO:0003700 8.92 MYOD1 PAX3 PAX7 TP53

Sources for Pleomorphic Rhabdomyosarcoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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