MCID: PLM030
MIFTS: 40

Pleomorphic Rhabdomyosarcoma

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

Aliases & Classifications for Pleomorphic Rhabdomyosarcoma

MalaCards integrated aliases for Pleomorphic Rhabdomyosarcoma:

Name: Pleomorphic Rhabdomyosarcoma 12 58 15 70
Adult Pleomorphic Rhabdomyosarcoma 12 15 70
Pleomorphic Rhabdomyosarcoma, Adult Type 12
Anaplastic Rhabdomyosarcoma 12

Characteristics:

Orphanet epidemiological data:

58
pleomorphic rhabdomyosarcoma
Prevalence: <1/1000000 (Europe);

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:3250 DOID:8251
NCIt 50 C27369 C4258
SNOMED-CT 67 404054005 77455004
ICD10 via Orphanet 33 C49.9
UMLS via Orphanet 71 C0334480
Orphanet 58 ORPHA293199
UMLS 70 C0334480 C1332211

Summaries for Pleomorphic Rhabdomyosarcoma

MalaCards based summary : Pleomorphic Rhabdomyosarcoma, also known as adult pleomorphic rhabdomyosarcoma, is related to malignant mesenchymoma and skeletal muscle neoplasm. An important gene associated with Pleomorphic Rhabdomyosarcoma is MYOG (Myogenin), and among its related pathways/superpathways are Transcriptional misregulation in cancer and Myogenesis. The drugs Mechlorethamine and Epirubicin have been mentioned in the context of this disorder. Affiliated tissues include breast, kidney and lung, and related phenotypes are homeostasis/metabolism and cellular

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 318)
# Related Disease Score Top Affiliating Genes
1 malignant mesenchymoma 30.7 MYOG MYOD1 MB
2 skeletal muscle neoplasm 30.4 MYOG MYOD1 MB
3 liposarcoma 30.3 TP53 MYOG MB
4 mesenchymal cell neoplasm 30.3 TP53 MYOG MME
5 leiomyosarcoma 30.2 TP53 MYOG MB ACTC1
6 malignant fibrous histiocytoma 30.1 TP53 MYOG MYOD1 MB ACTC1
7 malignant peripheral nerve sheath tumor 29.6 TP53 MYOG KRT7 ACTC1
8 orbit rhabdomyosarcoma 29.6 PAX7 PAX3 MYOG MB FOXO1
9 embryonal rhabdomyosarcoma 29.3 TP53 PAX7 PAX3 MYOG MYOD1 MB
10 rhabdomyosarcoma 2 29.2 PAX7 PAX3 MYOG MYOD1 MYF6 MB
11 rhabdomyosarcoma 28.5 TP53 SYP PAX7 PAX3 MYOG MYOD1
12 childhood pleomorphic rhabdomyosarcoma 11.2
13 soft tissue sarcoma 10.4
14 rare tumor 10.4
15 prostate embryonal rhabdomyosarcoma 10.4 MYOG MYOD1
16 gallbladder sarcoma 10.4 MYOG MYOD1
17 prostate rhabdomyosarcoma 10.4 MYOG MYOD1
18 adult fibrosarcoma 10.4 MYOG MYOD1
19 scrotum neoplasm 10.4 MYOG ACTC1
20 central nervous system rhabdomyosarcoma 10.3 PAX3 FOXO1
21 malignant giant cell tumor of soft parts 10.3 MB ACTC1
22 heart lymphoma 10.3 MYOG MME
23 adult malignant schwannoma 10.3 TP53 MYOG
24 cervical polyp 10.3 MYOG MME
25 bilateral retinoblastoma 10.3 MYOG MB
26 bizarre leiomyoma 10.3 TP53 ACTC1
27 malignant triton tumor 10.2 MYOG MYOD1 MB
28 adult cystic nephroma 10.2 MME ACTC1
29 gas gangrene 10.2 MYOG MYOD1 MB
30 epithelioid leiomyosarcoma 10.2 MB ACTC1
31 vagina sarcoma 10.2 MYOG MME
32 breast leiomyosarcoma 10.2 MB KRT7
33 lung clear cell carcinoma 10.2 MB KRT7
34 inflammatory leiomyosarcoma 10.2 PAX7 MYOG MYOD1
35 benign metastasizing leiomyoma 10.2 KRT7 ACTC1
36 fallopian tube endometrioid adenocarcinoma 10.2 MYOG MME
37 childhood malignant schwannoma 10.2 TP53 MYOG
38 fibrous histiocytoma 10.2
39 parachordoma 10.2 KRT7 ACTC1
40 uterus leiomyosarcoma 10.2 MYOG KRT7
41 bladder leiomyoma 10.2 MYOD1 KRT7
42 undifferentiated embryonal sarcoma of the liver 10.2 TP53 MYOG MYOD1
43 embryonal sarcoma 10.2 TP53 MYOG MYOD1
44 bile duct adenoma 10.2 TP53 KRT7
45 x-linked recessive disease 10.2 PAX7 MYOG MYOD1
46 uterine corpus sarcoma 10.2 MYOG KRT7
47 dacryocystocele 10.2 PAX3 KRT7
48 chronic inflammation of lacrimal passage 10.2 PAX3 KRT7
49 ectomesenchymoma 10.2 PAX3 MYOG FOXO1
50 epithelioid trophoblastic tumor 10.2 KRT7 ACTC1

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 homeostasis/metabolism MP:0005376 10.11 ACTC1 FOXO1 KRT7 MB MME MYF6
2 cellular MP:0005384 10.09 ACTC1 FOXO1 KRT7 MB MME MYOG
3 cardiovascular system MP:0005385 10.06 ACTC1 FOXO1 MB MME MYOD1 PAX3
4 embryo MP:0005380 10.01 ACTC1 FOXO1 MB MYF6 MYOG PAX3
5 muscle MP:0005369 9.97 ACTC1 FOXO1 MB MYF6 MYOD1 MYOG
6 neoplasm MP:0002006 9.73 FOXO1 MYF6 MYOD1 PAX3 PAX7 TP53
7 no phenotypic analysis MP:0003012 9.7 FOXO1 MYF6 MYOD1 MYOG PAX3 PAX7
8 normal MP:0002873 9.61 ACTC1 FOXO1 MYF6 MYOD1 MYOG PAX3
9 respiratory system MP:0005388 9.17 MB MYF6 MYOD1 MYOG PAX3 PAX7

Drugs & Therapeutics for Pleomorphic Rhabdomyosarcoma

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

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
2
Epirubicin Approved Phase 2 56420-45-2 41867
3
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563
4
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
5
Ifosfamide Approved Phase 2 3778-73-2 3690
6
Isophosphamide mustard Phase 2 100427
7 Antibiotics, Antitubercular Phase 2
8 Alkylating Agents Phase 2
9 Protein Kinase Inhibitors Phase 2
10 Anti-Bacterial Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase II Study of Sorafenib With Chemotherapy, Radiation, and Surgery for High-Risk Soft Tissue Sarcomas Active, not recruiting NCT02050919 Phase 2 Epirubicin Hydrochloride;Ifosfamide;Sorafenib Tosylate

Search NIH Clinical Center for Pleomorphic Rhabdomyosarcoma

Genetic Tests for Pleomorphic Rhabdomyosarcoma

Anatomical Context for Pleomorphic Rhabdomyosarcoma

MalaCards organs/tissues related to Pleomorphic Rhabdomyosarcoma:

40
Breast, Kidney, Lung, Uterus, Prostate, Skeletal Muscle, Ovary

Publications for Pleomorphic Rhabdomyosarcoma

Articles related to Pleomorphic Rhabdomyosarcoma:

(show top 50) (show all 219)
# Title Authors PMID Year
1
Dedifferentiated and Undifferentiated Melanomas: Report of 35 New Cases With Literature Review and Proposal of Diagnostic Criteria. 61
33428337 2021
2
Successful treatment of synchronous chemoresistant pulmonary metastasis from pleomorphic rhabdomyosarcoma with stereotaxic body radiation therapy: A case report and a review of the literature. 61
33360328 2021
3
Molecular characterization of a bladder pleomorphic rhabdomyosarcoma in an adult patient. 61
32703497 2020
4
Pleomorphic rhabdomyosarcoma of the spermatic cord and a secondary hydrocele testis: A case report. 61
32607344 2020
5
High-grade pleomorphic rhabdomyosarcoma in a 60-year-old male: a case report and review of the literature. 61
32850081 2020
6
Pleomorphic rhabdomyosarcoma of the submandibular gland: Diagnosis on a cytology sample. 61
32159876 2020
7
Pleomorphic rhabdomyosarcoma of the liver in an adult: a rare case report. 61
32316960 2020
8
Soft Tissue Special Issue: Skeletal Muscle Tumors: A Clinicopathological Review. 61
31950473 2020
9
Exquisite Tumor Targeting by Salmonella A1-R in Combination with Caffeine and Valproic Acid Regresses an Adult Pleomorphic Rhabdomyosarcoma Patient-Derived Orthotopic Xenograft Mouse Model. 61
31896528 2020
10
Chemoresistant pleomorphic rhabdomyosarcoma: whole exome sequencing reveals underlying cancer predisposition and therapeutic options. 61
30352869 2020
11
Pleomorphic rhabdomyosarcoma on the chest wall which infiltrated intercostal muscles: A case report. 61
32987291 2020
12
The current landscape of rhabdomyosarcomas: an update. 61
31696361 2020
13
Adult primary cervical rhabdomyosarcomas: A Multicentric cross-national case series. 61
31780571 2020
14
[Primary Pleomorphic Rhabdomyosarcoma of the Chest Wall;Report of a Case]. 61
31879390 2019
15
Successful treatment of adult pleomorphic rhabdomyosarcoma with bone invasion in the lower leg by chemotherapy and biological reconstruction: A case report. 61
28356215 2019
16
Spindle cell liposarcoma with a TRIO-TERT fusion transcript. 61
30793229 2019
17
Characteristics of mismatch repair deficiency in sarcomas. 61
30765880 2019
18
Real-World Experiences with Pazopanib in Patients with Advanced Soft Tissue and Bone Sarcoma in Northern California. 61
30889920 2019
19
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. 61
30085960 2019
20
Identification Of Actionable Genetic Targets In Primary Cardiac Sarcomas. 61
31807008 2019
21
Primary cutaneous pleomorphic rhabdomyosarcoma in the periocular region. 61
29282833 2019
22
Pleomorphic rhabdomyosarcoma metastasis to small intestine causing intussusception: A case report. 61
30572480 2018
23
Subclassification of pleomorphic sarcomas: How and why should we care? 61
30340082 2018
24
Status of programmed death-ligand 1 expression in sarcomas. 61
30400799 2018
25
Pleomorphic rhabdomyosarcoma of the liver with a hepatic cyst in an adult: Case report and literature review. 61
30024506 2018
26
Rapidly growing massive pleomorphic rhabdomyosarcoma of the bladder presenting with bladder outlet obstruction. 61
26381078 2018
27
Temozolomide combined with irinotecan caused regression in an adult pleomorphic rhabdomyosarcoma patient-derived orthotopic xenograft (PDOX) nude-mouse model. 61
29100276 2017
28
PD-1 and PD-L1 expression in bone and soft tissue sarcomas. 61
28688724 2017
29
Pleomorphic Rhabdomyosarcoma of the Uterus - Case Report and a Systematic Review of the Literature. 61
28476820 2017
30
Pleomorphic rhabdomyosarcoma arising in the anterior mediastinum: A case report with cytological features of imprint and liquid-based cytology specimens. 61
28024111 2017
31
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. 61
27569112 2017
32
Pleomorphic rhabdomyosarcoma infiltrating thoracic spine in a 59-year-old female patient: Case report. 61
28868225 2017
33
Pleomorphic rhabdomyosarcoma with an impressive response to chemotherapy: case report and review of the literature. 61
26952562 2016
34
Primary rhabdomyosarcoma of the distal femoral diaphysis: a case report and review of the literature. 61
27412560 2016
35
Misdiagnosis of primary pleomorphic rhabdomyosarcoma of the right thigh in a young adult: A case report. 61
27588141 2016
36
Pleomorphic rhabdomyosarcoma of the left atrium mimicking myxoma. 61
27510683 2016
37
A selective screening platform reveals unique global expression patterns of microRNAs in a cohort of human soft-tissue sarcomas. 61
26878133 2016
38
Metastatic Malignant Melanoma With Complete Loss of Differentiation Markers (Undifferentiated/Dedifferentiated Melanoma): Analysis of 14 Patients Emphasizing Phenotypic Plasticity and the Value of Molecular Testing as Surrogate Diagnostic Marker. 61
26448190 2016
39
Primary Pleomorphic Rhabdomyosarcoma of Thyroid Gland in an Adult Patient: A Case Report. 61
27026769 2016
40
Pleomorphic Rhabdomyosarcoma Arising from True Vocal Fold of Larynx: Report of a Rare Case and Literature Review. 61
27699075 2016
41
Adult Pleomorphic Rhabdomyosarcoma: A Multicentre Retrospective Study. 61
26504053 2015
42
Cutaneous Pleomorphic Rhabdomyosarcoma Occurring on Sun-Damaged Skin: A Case Report. 61
25140666 2015
43
Pleomorphic rhabdomyosarcoma presenting as a hypopharyngeal mass. 61
25243978 2015
44
Giant malignant peripheral nerve sheath tumor with cauda equina syndrome and subarachnoid hemorrhage: Complications in a case of type 1 neurofibromatosis. 61
26283846 2015
45
[A case of infant with giant parapharyngeal space rhabdomyosarcoma]. 61
26536713 2015
46
The indications and efficacy of conventional chemotherapy in primary and recurrent sarcoma. 61
25581912 2015
47
Pelvic pleomorphic rhabdomyosarcoma presenting as oliguria in a 61-year-old woman. 61
25880675 2015
48
Pancreatic pleomorphic rhabdomyosarcoma. 61
26092712 2015
49
Primary pleomorphic rhabdomyosarcoma of breast: Report of a rare neoplasm. 61
25709664 2014
50
Adult Duodenal Pleomorphic Rhabdomyosarcoma. 61
26157890 2014

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 11.74 TP53 PAX7 PAX3 FOXO1
2
Show member pathways
11.2 MYOG MYOD1 MYF6
3 10.9 PAX7 PAX3 MYOG MYOD1
4 10.72 TP53 MYOD1 FOXO1

GO Terms for Pleomorphic Rhabdomyosarcoma

Cellular components related to Pleomorphic Rhabdomyosarcoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.17 TP53 PAX7 PAX3 MYOG MYOD1 MYF6
2 neuron projection terminus GO:0044306 8.96 SYP MME

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.04 TP53 PAX7 PAX3 MYOG MYOD1 MYF6
2 regulation of transcription, DNA-templated GO:0006355 10.02 TP53 PAX7 PAX3 MYOG MYOD1 MYF6
3 positive regulation of transcription by RNA polymerase II GO:0045944 9.99 TP53 PAX3 MYOG MYOD1 MYF6 FOXO1
4 positive regulation of transcription, DNA-templated GO:0045893 9.88 TP53 PAX3 MYOG MYOD1 MYF6 FOXO1
5 skeletal muscle tissue development GO:0007519 9.63 MYOG MYOD1 MYF6
6 skeletal muscle cell differentiation GO:0035914 9.61 MYOG MYOD1 MYF6
7 skeletal muscle fiber development GO:0048741 9.57 MYOG MYOD1
8 actin filament-based movement GO:0030048 9.56 MYH3 ACTC1
9 myoblast differentiation GO:0045445 9.55 MYOG MYOD1
10 replicative senescence GO:0090399 9.54 TP53 MME
11 positive regulation of muscle cell differentiation GO:0051149 9.54 MYOG MYOD1 MYF6
12 myotube differentiation GO:0014902 9.52 MYOG MYOD1
13 skeletal muscle tissue regeneration GO:0043403 9.5 MYOG MYOD1 MYF6
14 positive regulation of myoblast differentiation GO:0045663 9.43 MYOG MYOD1 MYF6
15 positive regulation of skeletal muscle fiber development GO:0048743 9.33 MYOG MYOD1 MYF6
16 muscle cell fate commitment GO:0042693 9.13 MYOG MYOD1 MYF6
17 muscle organ development GO:0007517 9.1 PAX7 PAX3 MYOG MYOD1 MYH3 MYF6

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.98 TP53 PAX7 PAX3 MYOG MYOD1 MYF6
2 sequence-specific double-stranded DNA binding GO:1990837 9.77 PAX7 PAX3 MYOG MYOD1 MYF6
3 sequence-specific DNA binding GO:0043565 9.76 PAX3 MYOG MYOD1 FOXO1
4 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.72 TP53 MYOG MYOD1 MYF6 FOXO1
5 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.7 TP53 PAX7 PAX3 MYOG MYOD1 MYF6
6 proximal promoter sequence-specific DNA binding GO:0000987 9.58 TP53 MYOG MYOD1
7 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.5 TP53 PAX7 PAX3 MYOG MYOD1 MYF6
8 E-box binding GO:0070888 9.43 MYOG MYOD1 MYF6
9 DNA-binding transcription factor activity GO:0003700 9.17 TP53 PAX7 PAX3 MYOG MYOD1 MYF6

Sources for Pleomorphic Rhabdomyosarcoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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