MCID: PLM030
MIFTS: 42

Pleomorphic Rhabdomyosarcoma

Categories: Rare diseases, Cancer diseases, Muscle 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 404054005 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 histiocytoma and botryoid rhabdomyosarcoma. 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 Carboplatin and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and endothelial, 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 48)
# Related Disease Score Top Affiliating Genes
1 histiocytoma 29.5 MB MYOD1
2 botryoid rhabdomyosarcoma 29.2 MB MYOD1 PAX3
3 rhabdomyosarcoma 28.1 FOXO1 MB MYOD1 PAX3 PAX7
4 rhabdomyosarcoma 2 26.7 FOXO1 MB MYOD1 PAX3 PAX7
5 childhood pleomorphic rhabdomyosarcoma 12.1
6 breast rhabdomyosarcoma 10.3 MB MYOD1
7 mesenchymoma 10.3 MB MYOD1
8 spindle cell rhabdomyosarcoma 10.3 MB MYOD1
9 adult fibrosarcoma 10.3 MB MYOD1
10 medullomyoblastoma 10.2 MB MYOD1
11 malignant mesenchymoma 10.2 MB MYOD1
12 adenosarcoma 10.1 MB MME
13 mixed cell type cancer 10.1 MB MME
14 nephrogenic adenofibroma 10.1 MME MYOD1
15 alveolar soft part sarcoma 10.0 MB MYOD1
16 laryngitis 10.0
17 muscle tissue disease 10.0 MB MYOD1
18 uterine sarcoma 10.0 MB MME
19 colorectal cancer 9.9
20 childhood kidney cell carcinoma 9.9 FOXO1 PAX3
21 inflammatory leiomyosarcoma 9.8 MYOD1 PAX7
22 conventional leiomyosarcoma 9.8 MYOD1 PAX7
23 aging 9.8
24 bile duct cysts 9.8
25 urinary tract infections, recurrent 9.8
26 thrombocytopenia 9.8
27 inguinal hernia 9.8
28 obstructive jaundice 9.8
29 malignant fibroxanthoma 9.8
30 melanoma 9.8
31 liposarcoma 9.8
32 fibrous histiocytoma 9.8
33 pancreatitis 9.8
34 pleomorphic liposarcoma 9.8
35 thyroiditis 9.8
36 mediastinitis 9.8
37 duodenitis 9.8
38 skin melanoma 9.8
39 pulmonary embolism 9.8
40 cytomegalovirus infection 9.8
41 endometrial stromal sarcoma 9.7 MB MME
42 myositis 9.6 MB MYOD1
43 cellular schwannoma 9.5 PAX3 PAX7
44 central nervous system mesenchymal non-meningothelial tumor 8.5 FOXO1 MYOD1 PAX3 PAX7
45 ewing sarcoma 8.5 FOXO1 MYOD1 PAX3 PAX7
46 muscle cancer 8.0 FOXO1 MB MYOD1 PAX3 PAX7
47 embryonal rhabdomyosarcoma 8.0 FOXO1 MB MYOD1 PAX3 PAX7
48 skeletal muscle cancer 8.0 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 PAX3 PAX7 FOXO1 MYOD1
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 top 50) (show all 66)
# 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 50-18-0, 6055-19-2 2907
3
Dactinomycin Approved, Investigational Phase 3,Phase 2 50-76-0 2019 457193
4
Epirubicin Approved Phase 3,Phase 2 56420-45-2 41867
5
Etoposide Approved Phase 3,Phase 2 33419-42-0 36462
6
Ifosfamide Approved Phase 3,Phase 2 3778-73-2 3690
7
Vincristine Approved, Investigational Phase 3,Phase 2 2068-78-2, 57-22-7 5978
8
Cyproheptadine Approved Phase 3 129-03-3 2913
9
Histamine Approved, Investigational Phase 3 75614-87-8, 51-45-6 774
10 Alkylating Agents Phase 3,Phase 2
11 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1
12 Antibiotics, Antitubercular Phase 3,Phase 2,Phase 1
13 Anti-Infective Agents Phase 3,Phase 2
14 Antimitotic Agents Phase 3,Phase 2
15 Antineoplastic Agents, Alkylating Phase 3,Phase 2
16 Antineoplastic Agents, Phytogenic Phase 3,Phase 2
17 Antirheumatic Agents Phase 3,Phase 2
18 Etoposide phosphate Phase 3,Phase 2
19 Immunosuppressive Agents Phase 3,Phase 2
20
Isophosphamide mustard Phase 3,Phase 2 0
21 Nucleic Acid Synthesis Inhibitors Phase 3,Phase 2
22 Topoisomerase Inhibitors Phase 3,Phase 2,Phase 1
23 Anti-Allergic Agents Phase 3
24 Antipruritics Phase 3
25 Dermatologic Agents Phase 3
26 Gastrointestinal Agents Phase 3
27 Histamine Antagonists Phase 3
28 Histamine H1 Antagonists Phase 3
29
Histamine Phosphate Phase 3 51-74-1 65513
30 Neurotransmitter Agents Phase 3
31 Serotonin Agents Phase 3
32 Serotonin Antagonists Phase 3
33
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
34
Bevacizumab Approved, Investigational Phase 2 216974-75-3
35
Everolimus Approved Phase 2 159351-69-6 6442177
36
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
37
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
38
Vinblastine Approved Phase 2 865-21-4 13342 241903
39
Vinorelbine Approved, Investigational Phase 2 71486-22-1 60780 44424639
40
Doxorubicin Approved, Investigational Phase 2,Phase 1 23214-92-8 31703
41
Lenograstim Approved, Investigational Phase 2 135968-09-1
42
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
43
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563
44
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
45
Niacin Approved, Investigational, Nutraceutical Phase 2 59-67-6 938
46
Nicotinamide Approved, Investigational, Nutraceutical Phase 2 98-92-0 936
47
Doxil Approved June 1999 Phase 2,Phase 1 31703
48 Angiogenesis Inhibitors Phase 2
49 Angiogenesis Modulating Agents Phase 2
50 Antibodies Phase 2,Phase 1

Interventional clinical trials:


# 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 Cyproheptadine in Preventing Weight Loss in Children Receiving Chemotherapy for Cancer Terminated NCT01132547 Phase 3 cyproheptadine hydrochloride
3 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
4 Imatinib Mesylate in Treating Patients With Advanced Soft Tissue Sarcoma or Bone Sarcoma Completed NCT00031915 Phase 2 imatinib mesylate
5 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
6 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
7 Cixutumumab and Doxorubicin Hydrochloride in Treating Patients With Unresectable, Locally Advanced, or Metastatic Soft Tissue Sarcoma Completed NCT00720174 Phase 1 Doxorubicin Hydrochloride
8 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
9 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:

41
Bone, Testes, Endothelial, Uterus, Bone Marrow, Skeletal Muscle, Kidney

Publications for Pleomorphic Rhabdomyosarcoma

Articles related to Pleomorphic Rhabdomyosarcoma:

(show top 50) (show all 91)
# Title Authors Year
1
Temozolomide combined with irinotecan caused regression in an adult pleomorphic rhabdomyosarcoma patient-derived orthotopic xenograft (PDOX) nude-mouse model. ( 29100276 )
2017
2
Pleomorphic Rhabdomyosarcoma of the Uterus - Case Report and a Systematic Review of the Literature. ( 28476820 )
2017
3
Pleomorphic rhabdomyosarcoma infiltrating thoracic spine in a 59-year-old female patient: Case report. ( 28868225 )
2017
4
Successful treatment of adult pleomorphic rhabdomyosarcoma with bone invasion in the lower leg by chemotherapy and biological reconstruction: A case report. ( 28356215 )
2017
5
Primary cutaneous pleomorphic rhabdomyosarcoma in the periocular region. ( 29282833 )
2017
6
Primary Pleomorphic Rhabdomyosarcoma of Thyroid Gland in an Adult Patient: A Case Report. ( 27026769 )
2016
7
Misdiagnosis of primary pleomorphic rhabdomyosarcoma of the right thigh in a young adult: A case report. ( 27588141 )
2016
8
Pleomorphic Rhabdomyosarcoma Arising from True Vocal Fold of Larynx: Report of a Rare Case and Literature Review. ( 27699075 )
2016
9
Pleomorphic rhabdomyosarcoma of the left atrium mimicking myxoma. ( 27510683 )
2016
10
Pleomorphic rhabdomyosarcoma with an impressive response to chemotherapy: case report and review of the literature. ( 26952562 )
2016
11
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
12
Pleomorphic rhabdomyosarcoma arising in the anterior mediastinum: A case report with cytological features of imprint and liquid-based cytology specimens. ( 28024111 )
2016
13
Adult Pleomorphic Rhabdomyosarcoma: A Multicentre Retrospective Study. ( 26504053 )
2015
14
Pancreatic pleomorphic rhabdomyosarcoma. ( 26092712 )
2015
15
Pelvic pleomorphic rhabdomyosarcoma presenting as oliguria in a 61-year-old woman. ( 25880675 )
2015
16
Rapidly growing massive pleomorphic rhabdomyosarcoma of the bladder presenting with bladder outlet obstruction. ( 26381078 )
2015
17
Pleomorphic Rhabdomyosarcoma Presenting as a Hypopharyngeal Mass. ( 25243978 )
2014
18
Cutaneous Pleomorphic Rhabdomyosarcoma Occurring on Sun Damaged Skin: A Case Report. ( 25140666 )
2014
19
Pleomorphic rhabdomyosarcoma of the cerebellopontine angle in an adult: a review of literature. ( 24481021 )
2014
20
Adult Duodenal Pleomorphic Rhabdomyosarcoma. ( 26157890 )
2014
21
Primary pleomorphic rhabdomyosarcoma of the adrenal gland in an adult: A case report. ( 24348835 )
2014
22
Primary pleomorphic rhabdomyosarcoma of breast: Report of a rare neoplasm. ( 25709664 )
2014
23
Pleomorphic rhabdomyosarcoma in a patient with hereditary nonpolyposis colorectal cancer. ( 23319697 )
2013
24
Postradiation cutaneous pleomorphic rhabdomyosarcoma with extracellular collagen deposits reminiscent of so-called amianthoid fibers. ( 24341853 )
2013
25
Paratesticular pleomorphic rhabdomyosarcoma: a report of two cases. ( 23476881 )
2013
26
Pleomorphic rhabdomyosarcoma with pulmonary tumour embolism. ( 23203178 )
2012
27
A pleomorphic rhabdomyosarcoma mimicking an inguinal hernia: a case report and review of the literature. ( 22611365 )
2012
28
Cytomegalovirus infection leads to pleomorphic rhabdomyosarcomas in Trp53+/- mice. ( 23002204 )
2012
29
Multiple sites of highly amplified DNA sequences detected by molecular cytogenetic analysis in HS-RMS-2, a new pleomorphic rhabdomyosarcoma cell line. ( 22432055 )
2012
30
Uterine pleomorphic rhabdomyosarcoma: a case report and review of literature. ( 21476391 )
2011
31
Pleomorphic rhabdomyosarcoma of the uterine corpus--a case report. ( 20825058 )
2010
32
Pleomorphic rhabdomyosarcoma of the uterine corpus: a clinicopathologic study of 4 cases and a review of the literature. ( 20173498 )
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
Right atrial botryoid rhabdomyosarcoma in an adult patient with recurrent pleomorphic rhabdomyosarcomas following doxorubicin therapy. ( 17630111 )
2007
48
Laryngeal pleomorphic rhabdomyosarcoma. ( 17481838 )
2007
49
Botryoid-type pleomorphic rhabdomyosarcoma of the renal pelvis in an adult. A rare case report and review of the literature. ( 16825824 )
2006
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 11.41 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 positive regulation of transcription, DNA-templated GO:0045893 9.5 FOXO1 MYOD1 PAX3
2 cellular response to starvation GO:0009267 9.26 FOXO1 MYOD1
3 positive regulation of transcription by RNA polymerase II GO:0045944 9.26 FOXO1 MYOD1 PAX3 PAX7
4 skeletal muscle tissue development GO:0007519 9.16 MYOD1 PAX7
5 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 RNA polymerase II transcription factor activity, sequence-specific DNA binding 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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