MCID: BTR001
MIFTS: 40

Botryoid Rhabdomyosarcoma

Categories: Cancer diseases, Fetal diseases, Muscle diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Botryoid Rhabdomyosarcoma

MalaCards integrated aliases for Botryoid Rhabdomyosarcoma:

Name: Botryoid Rhabdomyosarcoma 12 15 74
Sarcoma Botryoides 12 54
Botryoid Sarcoma 12 74
Botryoid-Type Embryonal Rhabdomyosarcoma 12

Classifications:



External Ids:

Disease Ontology 12 DOID:3255
NCIt 51 C9150
SNOMED-CT 69 14269005

Summaries for Botryoid Rhabdomyosarcoma

MalaCards based summary : Botryoid Rhabdomyosarcoma, also known as sarcoma botryoides, is related to embryonal rhabdomyosarcoma and rhabdomyosarcoma 2. An important gene associated with Botryoid Rhabdomyosarcoma is MYOD1 (Myogenic Differentiation 1), and among its related pathways/superpathways are Striated Muscle Contraction and Regulation of retinoblastoma protein. The drugs Morphine and Irinotecan have been mentioned in the context of this disorder. Affiliated tissues include cervix, uterus and prostate, and related phenotypes are cardiovascular system and homeostasis/metabolism

Wikipedia : 77 Sarcoma botryoides or botryoid sarcoma or botryoid rhabdomyosarcoma is a subtype of embryonal... more...

Related Diseases for Botryoid Rhabdomyosarcoma

Diseases in the Botryoid Rhabdomyosarcoma family:

Adult Botryoid Rhabdomyosarcoma

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

(show top 50) (show all 110)
# Related Disease Score Top Affiliating Genes
1 embryonal rhabdomyosarcoma 31.8 DES DICER1 MB MYOD1 PAX3
2 rhabdomyosarcoma 2 31.2 DES MB MYOD1 PAX3
3 gallbladder sarcoma 30.5 DES MYOD1
4 rhabdomyosarcoma 29.6 ACTC1 DES DICER1 MB MYOD1 PAX3
5 muscle cancer 29.2 DES MB MYOD1 PAX3
6 vulvar childhood botryoid-type embryonal rhabdomyosarcoma 12.6
7 childhood botryoid rhabdomyosarcoma 12.5
8 childhood vagina botryoid rhabdomyosarcoma 12.5
9 vagina botryoid rhabdomyosarcoma 12.5
10 adult botryoid rhabdomyosarcoma 12.5
11 adult vagina botryoid rhabdomyosarcoma 12.5
12 rhabdomyosarcoma, embryonal, 2 11.3
13 rhabdomyosarcoma, embryonal, 1 11.3
14 sarcoma 10.4
15 inflammatory leiomyosarcoma 10.2 DES MYOD1
16 malignant fibrous histiocytoma of bone 10.2 DES MYOD1
17 horner's syndrome 10.2 DES MYOD1
18 myofibroma 10.2 DES MB
19 giant cell myocarditis 10.2 DES MB
20 leydig cell tumor 10.2
21 sertoli-leydig cell tumor 10.2
22 bilateral retinoblastoma 10.2 DES MB
23 breast rhabdomyosarcoma 10.2 MB MYOD1
24 cystic nephroma 10.2 DES DICER1
25 embryonal sarcoma 10.1 DES MYOD1
26 fibromatosis 10.1 ACTC1 DES
27 histiocytoma 10.1 MB MYOD1
28 adenosarcoma 10.1 DES MB
29 ovarian fibrothecoma 10.1 ACTC1 DES
30 pulmonary blastoma 10.1 DES DICER1
31 fibroblastic rheumatism 10.1 ACTC1 DES
32 angiolipoma 10.1 ACTC1 DES
33 adult fibrosarcoma 10.1 MB MYOD1
34 cutaneous leiomyosarcoma 10.1 ACTC1 DES
35 rhabdoid cancer 10.1 MB MYOD1
36 spindle cell lipoma 10.1 ACTC1 DES
37 glomangioma 10.1 ACTC1 DES
38 parachordoma 10.1 ACTC1 DES
39 liposarcoma 10.1 DES MB
40 syringocystadenoma papilliferum 10.1 ACTC1 DES
41 kidney sarcoma 10.1 DICER1 MB
42 ossifying fibromyxoid tumor 10.1 ACTC1 DES
43 epithelioid leiomyosarcoma 10.1 ACTC1 DES
44 benign metastasizing leiomyoma 10.1 ACTC1 DES
45 leiomyoma 10.1 ACTC1 DES
46 gas gangrene 10.1 MB MYOD1
47 fibrous histiocytoma 10.1 ACTC1 DES
48 wilms tumor 5 10.1
49 bile duct cysts 10.1
50 wilms tumor 6 10.1

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



Diseases related to Botryoid Rhabdomyosarcoma

Symptoms & Phenotypes for Botryoid Rhabdomyosarcoma

MGI Mouse Phenotypes related to Botryoid Rhabdomyosarcoma:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.85 ACTC1 DES DICER1 MB MYOD1 PAX3
2 homeostasis/metabolism MP:0005376 9.73 ACTC1 DES DICER1 MB MYOD1 PAX3
3 cellular MP:0005384 9.72 ACTC1 DES DICER1 MB PAX3
4 mortality/aging MP:0010768 9.63 ACTC1 DES DICER1 MB MYOD1 PAX3
5 muscle MP:0005369 9.43 ACTC1 DES DICER1 MB MYOD1 PAX3
6 respiratory system MP:0005388 8.92 DICER1 MB MYOD1 PAX3

Drugs & Therapeutics for Botryoid Rhabdomyosarcoma

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

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Morphine Approved, Investigational Phase 3 57-27-2 5288826
2
Irinotecan Approved, Investigational Phase 3 100286-90-6, 97682-44-5 60838
3
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
4
Dactinomycin Approved, Investigational Phase 3 50-76-0 457193 2019
5
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
6
Everolimus Approved Phase 3 159351-69-6 70789204 6442177
7
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
8
Sirolimus Approved, Investigational Phase 3 53123-88-9 46835353 5284616 6436030
9
Vinorelbine Approved, Investigational Phase 3 71486-22-1 44424639 60780
10
Camptothecin Experimental Phase 3 7689-03-4
11
Emodepside Investigational, Vet_approved Phase 3 155030-63-0
12 topoisomerase I inhibitors Phase 3
13 Antineoplastic Agents, Alkylating Phase 3
14 Antimitotic Agents Phase 3
15 Alkylating Agents Phase 3
16 Immunosuppressive Agents Phase 3
17 Anti-Infective Agents Phase 3
18 Antirheumatic Agents Phase 3
19 Antineoplastic Agents, Phytogenic Phase 3
20 Anti-Bacterial Agents Phase 3
21 Immunologic Factors Phase 3
22 Nucleic Acid Synthesis Inhibitors Phase 3
23 Antibiotics, Antitubercular Phase 3
24 Topoisomerase Inhibitors Phase 3
25 Antifungal Agents Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Combination Chemotherapy and Radiation Therapy in Treating Patients With Newly Diagnosed Rhabdomyosarcoma Completed NCT00354835 Phase 3 Irinotecan Hydrochloride;Cyclophosphamide;Vincristine Sulfate
2 Combination Chemotherapy With or Without Temsirolimus in Treating Patients With Intermediate Risk Rhabdomyosarcoma Recruiting NCT02567435 Phase 3 Cyclophosphamide;Irinotecan Hydrochloride;Temsirolimus;Vincristine Sulfate;Vinorelbine

Search NIH Clinical Center for Botryoid Rhabdomyosarcoma

Genetic Tests for Botryoid Rhabdomyosarcoma

Anatomical Context for Botryoid Rhabdomyosarcoma

MalaCards organs/tissues related to Botryoid Rhabdomyosarcoma:

42
Cervix, Uterus, Prostate, Kidney, Bone, Skeletal Muscle, Smooth Muscle

Publications for Botryoid Rhabdomyosarcoma

Articles related to Botryoid Rhabdomyosarcoma:

(show top 50) (show all 159)
# Title Authors Year
1
Local control for vaginal botryoid rhabdomyosarcoma with pre-rectal transperineal surgical resection and autologous buccal graft vaginal replacement: A novel, minimally invasive, radiation-sparing approach. ( 29258699 )
2018
2
Botryoid Rhabdomyosarcoma of the Conjunctiva in a Young Boy. ( 30122858 )
2018
3
Chemotherapy-induced differentiation to cure botryoid rhabdomyosarcoma: a case report and review of the literature. ( 29953806 )
2017
4
Botryoid Rhabdomyosarcoma of the Cervix: Case report with review of the literature. ( 26357564 )
2015
5
A successful pregnancy during the treatment of cervical sarcoma botryoides and advantage of fertility sparing management: A case report. ( 26000001 )
2015
6
Application of Creatsas vaginoplasty after radical surgical treatment of sarcoma botryoides. ( 24841520 )
2014
7
Sarcoma botryoides in an infant. ( 25519859 )
2014
8
A botryoid rhabdomyosarcoma diagnosed as a choledochal cyst. ( 23832499 )
2013
9
Massive diffuse intraperitoneal multicystic mass in an infant. Botryoid rhabdomyosarcoma (RMS). ( 22421724 )
2012
10
Botryoid rhabdomyosarcoma of the uterine cervix. ( 22943732 )
2012
11
Cervical sarcoma botryoides and ovarian Sertoli-Leydig cell tumor: a case report and review of literature. ( 21847587 )
2012
12
Polypectomy followed by adjuvant chemotherapy in a patient with sarcoma botryoides of the uterine cervix--case report and review of the literature. ( 22384620 )
2011
13
Sarcoma botryoides (embryonal rhabdomyosarcoma) of the uterine cervix in sisters. ( 21278891 )
2010
14
Primary gallbladder sarcoma: a clinicopathologic study of 15 cases, heterogeneous sarcomas with poor outcome, except pediatric botryoid rhabdomyosarcoma. ( 19194282 )
2009
15
Urinary bladder botryoid rhabdomyosarcoma with widespread metastases in an 8-month-old Labrador cross dog. ( 20169756 )
2009
16
Trisomy 8 as a sole aberration in embryonal rhabdomyosarcoma (sarcoma botryoides) of the vagina. ( 19963119 )
2009
17
Sarcoma botryoides: MRI findings in two patients. ( 19243064 )
2009
18
Case report of a sarcoma botryoides of the uterine cervix in fertile age and literature review. ( 19294398 )
2009
19
Cementless bilateral total hip arthroplasty in a patient with a history of pelvic irradiation for sarcoma botryoides. ( 19648766 )
2009
20
Right atrial botryoid rhabdomyosarcoma in an adult patient with recurrent pleomorphic rhabdomyosarcomas following doxorubicin therapy. ( 17630111 )
2007
21
Primary renal botryoid rhabdomyosarcoma: diagnosis and outcome. ( 18082685 )
2007
22
Botryoid rhabdomyosarcoma of the biliary tract in children: a unique case report. ( 17177904 )
2006
23
Myogenic markers in the evaluation of embryonal botryoid rhabdomyosarcoma of the female genital tract. ( 16010486 )
2005
24
Myogenic markers in the evaluation of embryonal botryoid rhabdomyosarcoma of the female genital tract. ( 16220232 )
2005
25
Botryoid rhabdomyosarcoma of common bile duct. ( 15107524 )
2004
26
Botryoid rhabdomyosarcoma of vagina--two case reports. ( 15887839 )
2004
27
Embryonal rhabdomyosarcoma (sarcoma botryoides) of the cervix presenting as a cervical polyp treated with fertility-sparing surgery and adjuvant chemotherapy. ( 15385139 )
2004
28
Sarcoma botryoides of the uterine cervix in a 46-year-old woman: case report and literature review. ( 14668557 )
2004
29
Management of stage I cervical sarcoma botryoides in childhood and adolescence. ( 15173941 )
2004
30
Botryoid rhabdomyosarcoma of mesentery--a case report. ( 15025305 )
2003
31
Urinary Bladder Botryoid Rhabdomyosarcoma with Immature Cartilage in a 24-year-old Male Patient: A Case Report. ( 17657126 )
2003
32
Relapse eighteen and one-half years after apparent cure of sarcoma botryoides of the vagina. ( 12825233 )
2003
33
Botryoid rhabdomyosarcoma of the bladder in an adult female. ( 17955586 )
2002
34
[Embryonal botryoid rhabdomyosarcoma of the bladder]. ( 12410104 )
2002
35
Botryoid rhabdomyosarcoma of the nose: pitfalls of pathology. ( 11359096 )
2001
36
Isochromosome (17)(q10) as the sole structural chromosomal rearrangement in a case of botryoid rhabdomyosarcoma. ( 11454423 )
2001
37
Botryoid rhabdomyosarcoma of prostate--a case report. ( 12562002 )
2001
38
Cytogenetic abnormalities in a case of botryoid rhabdomyosarcoma. ( 10742076 )
2000
39
Cervical sarcoma botryoides treated with conservative surgery and adjuvant chemotherapy: a case report. ( 11198042 )
2000
40
Sarcoma botryoides of the uterine cervix in a young woman: a case report. ( 11198044 )
2000
41
Embryonal "Botryoid" rhabdomyosarcoma of the larynx: a clinicopathologic and immunohistochemical study of two cases. ( 10594285 )
1999
42
Cervical sarcoma botryoides. A case report. ( 10202753 )
1999
43
Sarcoma botryoides of the cervix. Report of a case with cytopathologic findings. ( 10349384 )
1999
44
Sarcoma botryoides of the female genital tract: long-term results of conservative treatment followed by pregnancy. A case report. ( 10376429 )
1999
45
Conservative treatment followed by chemotherapy with doxorubicin and ifosfamide for cervical sarcoma botryoides in young females. ( 10408845 )
1999
46
Analysis of p53 and K-ras genes and their proteins in a sarcoma botryoides of the uterine cervix. ( 10475130 )
1999
47
Sarcoma botryoides in a seven year old: successful chemotherapeutic management. ( 15512240 )
1999
48
Urinary bladder rhabdomyosarcoma (sarcoma botryoides) in a young Newfoundland dog. ( 9637297 )
1998
49
Sarcoma botryoides of the uterine cervix: a case report. ( 9714990 )
1998
50
Botryoid rhabdomyosarcoma of the bladder. ( 9338741 )
1997

Variations for Botryoid Rhabdomyosarcoma

Cosmic variations for Botryoid Rhabdomyosarcoma:

9 (show all 16)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM10654 TP53 soft tissue,vagina,rhabdomyosarcoma,embryonal c.637C>T p.R213* 17:7674894-7674894 0
2 COSM44720 TP53 soft tissue,vagina,rhabdomyosarcoma,embryonal c.961A>T p.K321* 17:7673567-7673567 0
3 COSM13016 PTPN11 soft tissue,bladder,rhabdomyosarcoma,embryonal c.226G>C p.E76Q 12:112450406-112450406 0
4 COSM580 NRAS soft tissue,vagina,rhabdomyosarcoma,embryonal c.181C>A p.Q61K 1:114713909-114713909 0
5 COSM532 KRAS soft tissue,bladder,rhabdomyosarcoma,embryonal c.38G>A p.G13D 12:25245347-25245347 0
6 COSM6930430 KMT2D soft tissue,vagina,rhabdomyosarcoma,embryonal c.1291G>T p.E431* 12:49052392-49052392 0
7 COSM99615 soft tissue,vagina,rhabdomyosarcoma,embryonal c.637C>T p.R213* 17:7674894-7674894 0
8 COSM6930429 soft tissue,vagina,rhabdomyosarcoma,embryonal c.1291G>T p.E431* 12:49052392-49052392 0
9 COSM99616 soft tissue,vagina,rhabdomyosarcoma,embryonal c.241C>T p.R81* 17:7674894-7674894 0
10 COSM3732985 soft tissue,vagina,rhabdomyosarcoma,embryonal c.961A>T p.K321* 17:7673567-7673567 0
11 COSM99618 soft tissue,vagina,rhabdomyosarcoma,embryonal c.637C>T p.R213* 17:7674894-7674894 0
12 COSM3732987 soft tissue,vagina,rhabdomyosarcoma,embryonal c.961A>T p.K321* 17:7673567-7673567 0
13 COSM3732986 soft tissue,vagina,rhabdomyosarcoma,embryonal c.961A>T p.K321* 17:7673567-7673567 0
14 COSM99617 soft tissue,vagina,rhabdomyosarcoma,embryonal c.358C>T p.R120* 17:7674894-7674894 0
15 COSM1638393 soft tissue,vagina,rhabdomyosarcoma,embryonal c.637C>T p.R213* 17:7674894-7674894 0
16 COSM3378350 soft tissue,vagina,rhabdomyosarcoma,embryonal c.637C>T p.R213* 17:7674894-7674894 0

Expression for Botryoid Rhabdomyosarcoma

Search GEO for disease gene expression data for Botryoid Rhabdomyosarcoma.

Pathways for Botryoid Rhabdomyosarcoma

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

# Super pathways Score Top Affiliating Genes
1 10.81 ACTC1 DES
2 10.37 MYOD1 PAX3

GO Terms for Botryoid Rhabdomyosarcoma

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

# Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 8.96 MYOD1 PAX3
2 muscle filament sliding GO:0030049 8.62 ACTC1 DES

Sources for Botryoid 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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