MCID: DYS101
MIFTS: 42

Dysgerminoma

Categories: Cancer diseases, Endocrine diseases, Reproductive diseases

Aliases & Classifications for Dysgerminoma

MalaCards integrated aliases for Dysgerminoma:

Name: Dysgerminoma 12 77 56 6 45 15

Classifications:



External Ids:

Disease Ontology 12 DOID:4441
MeSH 45 D004407
NCIt 51 C2996
SNOMED-CT 69 60718004
UMLS 74 C0013377

Summaries for Dysgerminoma

Disease Ontology : 12 A germ cell cancer that derives from cells that give rise to egg cells.

MalaCards based summary : Dysgerminoma is related to pediatric ovarian dysgerminoma and dysgerminoma of ovary. An important gene associated with Dysgerminoma is KIT (KIT Proto-Oncogene, Receptor Tyrosine Kinase), and among its related pathways/superpathways is Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs Darbepoetin alfa and Mechlorethamine have been mentioned in the context of this disorder. Affiliated tissues include ovary, breast and brain, and related phenotypes are Decreased sensitivity to paclitaxel and cellular

Wikipedia : 77 A dysgerminoma is a type of germ cell tumor; it usually is malignant and usually occurs in the... more...

Related Diseases for Dysgerminoma

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

(show top 50) (show all 258)
# Related Disease Score Top Affiliating Genes
1 pediatric ovarian dysgerminoma 34.0 ALPP ENO2
2 dysgerminoma of ovary 32.4 AFP ALPP BRCA1 ENO2 KIT PTHLH
3 gonadoblastoma 31.6 ALPP KIT SRY WT1
4 mixed germ cell tumor 30.4 AFP KIT
5 teratoma 30.2 AFP ENO2 KIT KRT7
6 seminoma 30.1 AFP ALPP ENO2 KIT
7 malignant teratoma 30.0 AFP ENO2
8 pineal dysgerminoma 12.1
9 malignant dysgerminomatous germ cell tumor of the ovary 11.4
10 diencephalic syndrome 11.1
11 gonadal dysgenesis 10.5
12 warthin tumor 10.5 KIT KRT7
13 ceruminoma 10.4 KIT KRT7
14 jejunal cancer 10.4 KIT KRT7
15 lobular neoplasia 10.4 BRCA1 MUC1
16 46,xy sex reversal 1 10.4
17 46 xy gonadal dysgenesis 10.4
18 breast adenomyoepithelioma 10.4 ENO2 KRT7
19 breast myoepithelial neoplasm 10.4 ENO2 KRT7
20 gastric squamous cell carcinoma 10.4 ENO2 KRT7
21 paget disease, extramammary 10.4 KRT7 MUC1
22 mucinous bronchioloalveolar adenocarcinoma 10.4 KRT7 MUC1
23 cutaneous ganglioneuroma 10.4 ENO2 KIT
24 ampulla of vater adenocarcinoma 10.4 KRT7 MUC1
25 mucinous tubular and spindle renal cell carcinoma 10.4 KRT7 MUC1
26 cribriform carcinoma 10.4 KIT KRT7
27 biliary papillomatosis 10.4 KRT7 MUC1
28 well-differentiated liposarcoma 10.4 KRT7 MUC1
29 reticular perineurioma 10.4 KIT MUC1
30 perineurioma 10.4 KIT MUC1
31 adenoid basal cell carcinoma 10.4 KIT KRT7
32 malignant leydig cell tumor 10.4 KIT KRT7
33 gastric leiomyosarcoma 10.4 ENO2 KIT
34 extraskeletal ewing sarcoma 10.4 ENO2 MUC1
35 plexiform schwannoma 10.4 ENO2 KIT
36 bile duct adenoma 10.4 KRT7 MUC1
37 conventional fibrosarcoma 10.4 ENO2 KIT
38 papillary transitional carcinoma 10.4 ENO2 KRT7
39 small cell carcinoma of the bladder 10.4 ENO2 KRT7
40 sensory organ benign neoplasm 10.4 ENO2 KRT7
41 solid adenocarcinoma with mucin production 10.3 KRT7 MUC1
42 papillary serous adenocarcinoma 10.3 BRCA1 KRT7
43 ovarian melanoma 10.3 KIT PTEN
44 gallbladder small cell carcinoma 10.3 ENO2 KRT7
45 mixed type thymoma 10.3 KIT PTEN
46 aggressive digital papillary adenocarcinoma 10.3 KIT MUC1
47 pilomatrix carcinoma 10.3 ENO2 MUC1
48 parachordoma 10.3 KRT7 MUC1
49 secretory meningioma 10.3 KRT7 MUC1
50 intracranial cysts 10.3 ENO2 MUC1

Graphical network of the top 20 diseases related to Dysgerminoma:



Diseases related to Dysgerminoma

Symptoms & Phenotypes for Dysgerminoma

GenomeRNAi Phenotypes related to Dysgerminoma according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased sensitivity to paclitaxel GR00112-A-0 8.62 PTEN WT1

MGI Mouse Phenotypes related to Dysgerminoma:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.97 BRCA1 ENO2 KIT KRT7 PTEN PTHLH
2 liver/biliary system MP:0005370 9.8 AFP KIT PTEN PTHLH RNF139 TFRC
3 neoplasm MP:0002006 9.63 AFP BRCA1 KIT PTEN PTHLH WT1
4 renal/urinary system MP:0005367 9.43 BRCA1 KIT KRT7 PTEN PTHLH WT1
5 respiratory system MP:0005388 9.1 BRCA1 ENO2 KIT PTEN PTHLH WT1

Drugs & Therapeutics for Dysgerminoma

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

(show all 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Darbepoetin alfa Approved, Investigational Phase 2 209810-58-2, 11096-26-7
2
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
3
Cisplatin Approved Phase 2 15663-27-1 2767 441203 84093
4
Ifosfamide Approved Phase 2 3778-73-2 3690
5
Paclitaxel Approved, Vet_approved Phase 2,Phase 1 33069-62-4 36314
6
Sunitinib Approved, Investigational Phase 2 557795-19-4, 341031-54-7 5329102
7
Durvalumab Approved, Investigational Phase 2 1428935-60-7
8
Tremelimumab Investigational Phase 2 745013-59-6
9 Hematinics Phase 2
10 Antimitotic Agents Phase 2,Phase 1
11 Antineoplastic Agents, Alkylating Phase 2
12
Isophosphamide mustard Phase 2 0
13 Alkylating Agents Phase 2
14 Antineoplastic Agents, Phytogenic Phase 2,Phase 1
15 Albumin-Bound Paclitaxel Phase 2,Phase 1
16 Angiogenesis Inhibitors Phase 2
17 Protein Kinase Inhibitors Phase 2,Phase 1
18 Angiogenesis Modulating Agents Phase 2
19 Immunoglobulins Phase 2
20 Immunologic Factors Phase 2
21 Antibodies Phase 2
22 Antineoplastic Agents, Immunological Phase 2
23 Antibodies, Monoclonal Phase 2
24 Chorionic Gonadotropin Phase 2
25 Imatinib Mesylate Phase 2 220127-57-1 123596
26
Lapatinib Approved March 2007, Investigational Phase 1 231277-92-2, 388082-78-8 208908 9941095

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Darbepoetin Alfa in Patients With "Poor Prognosis" Germ Cell Tumor Treated With High-Dose Chemotherapy (HD-VIP) Completed NCT00204633 Phase 2 Darbepoetin alfa
2 Combination Chemotherapy and Pegfilgrastim in Treating Patients With Previously Untreated Germ Cell Tumors Completed NCT00470366 Phase 2 cisplatin;ifosfamide;paclitaxel
3 Sunitinib in Treating Patients With Metastatic Germ Cell Tumors That Have Relapsed or Not Responded to Treatment Completed NCT00453310 Phase 2 sunitinib malate
4 Evaluating Immune Therapy, Duravalumab (MEDI4736) With Tremelimumab for Relapsed/Refractory Germ Cell Tumors Active, not recruiting NCT03158064 Phase 2 Durvalumab;Tremelimumab
5 Imatinib Mesylate in Treating Patients With Progressive, Refractory, or Recurrent Stage II or Stage III Testicular or Ovarian Cancer Terminated NCT00042952 Phase 2 imatinib mesylate
6 Lapatinib and Paclitaxel in Treating Patients With Advanced Solid Tumors Completed NCT00313599 Phase 1 lapatinib;paclitaxel
7 Changes in Brain Function in Patients With Stage I, Stage II, Stage III, or Stage IV Ovarian, Primary Peritoneal, or Fallopian Tube Cancer Who Are Receiving Chemotherapy Completed NCT01080521

Search NIH Clinical Center for Dysgerminoma

Cochrane evidence based reviews: dysgerminoma

Genetic Tests for Dysgerminoma

Anatomical Context for Dysgerminoma

MalaCards organs/tissues related to Dysgerminoma:

42
Ovary, Breast, Brain, Kidney, Testis, Lung, Myeloid

Publications for Dysgerminoma

Articles related to Dysgerminoma:

(show top 50) (show all 447)
# Title Authors Year
1
Pitfalls of Frozen Section in Gynecological Pathology: A Rare Case of Ovarian Lymphoma in an HIV-Positive Woman Resembling Dysgerminoma on Frozen Section. ( 30474462 )
2019
2
Two Cases of Hypercalcemia in Pediatric Ovarian Dysgerminoma. ( 30551952 )
2019
3
A case of metastatic dysgerminoma treated with two cycles neoadjuvant chemotherapy followed by fertility-sparing minimally invasive surgery. ( 31024985 )
2019
4
Outcome of Metastatic and Recurrent Ovarian Dysgerminoma Using Radiation Therapy and Chemotherapy in a Dog. ( 31099610 )
2019
5
Unexpected diagnosis of stage IIA dysgerminoma in streak gonad in a patient with Swyer syndrome: a case report. ( 29084462 )
2018
6
Increased human Chorionic Gonadotropin levels five years before diagnosis of an ovarian dysgerminoma. ( 29150337 )
2018
7
Paediatric dysgerminoma: Results of three consecutive French germ cell tumours clinical studies (TGM-85/90/95) with late effects study. ( 29331749 )
2018
8
Imaging findings of ovarian dysgerminoma with emphasis on multiplicity and vascular architecture: pathogenic implications. ( 29450608 )
2018
9
Disparities in fertility-sparing surgery in adolescent and young women with stage I ovarian dysgerminoma. ( 29506849 )
2018
10
Ovarian dysgerminoma in pregnancy: A case report and literature review. ( 29580145 )
2018
11
Pseudopapillary and Macrofollicular Microscopic Growth Patterns in an Advanced Stage Ovarian Dysgerminoma: A Case Report. ( 29731802 )
2018
12
Is carboplatin-based chemotherapy as effective as cisplatin-based chemotherapy in the treatment of advanced-stage dysgerminoma in children, adolescents and young adults? ( 29884437 )
2018
13
Torsion of Ovarian Dysgerminoma in a Child: Role of Computed Tomography. ( 29942725 )
2018
14
Treatment of bilateral ovarian dysgerminoma with 11-year follow-up: A case report. ( 30186597 )
2018
15
Primary intrauterine dysgerminoma in a pregnant woman: A rare case report. ( 30303159 )
2018
16
Pediatric ovarian dysgerminoma with highly elevated serum neuron-specific enolase. ( 30345703 )
2018
17
Complications of dysgerminoma: meeting the health needs of patients in conflict zones. ( 28137901 )
2017
18
Dysgerminoma and Gonadoblastoma with Para-aortic Lymph Node Metastasis in a Patient with Swyer Syndrome. ( 28748865 )
2017
19
Case Report: Use of Tumor and Germline Y Chromosomal Analysis to Guide Surgical Management in a 46, XX Female Presenting With Gonadoblastoma With Dysgerminoma. ( 28800577 )
2017
20
Adolescent Female With Turner's Syndrome and 46,X,der(Y) del(Y)(p11.2)del(q11.2) Karyotype With Gonadoblastoma and Dysgerminoma. ( 29187016 )
2017
21
Ovarian dysgerminoma presenting as a pregnancy: case report. ( 27448792 )
2017
22
Nevoid Basal Cell Carcinoma Syndrome and dysgerminoma: an incidental association? ( 26333390 )
2016
23
Unilateral gonadoblastoma with dysgerminoma in normal fertile woman having a child: Extremely rare occurrence with characteristic immunohistomorphology. ( 27721289 )
2016
24
The role of mathematical models and scoring systems in detecting dysgerminoma in a young patient. ( 27723077 )
2016
25
Imaging Findings in Dysgerminoma in a Case of 46 XY, Complete Gonadal Dysgenesis (Swyer syndrome). ( 27790550 )
2016
26
Dysgerminoma developing from an ectopic ovary in a patient with WAGR syndrome: A case report. ( 27882234 )
2016
27
Dual malignancy in adolescence: A rare case report of metachronous papillary carcinoma of thyroid following dysgerminoma of ovary. ( 27904567 )
2016
28
Is fertility sparing surgery a treatment option for premenopausal patients with dysgerminoma? ( 28127973 )
2016
29
Parinaud «plus» syndrome in a patient with dysgerminoma. ( 26900044 )
2016
30
Death by bleomycin pulmonary toxicity in ovarian dysgerminoma with pathologic complete response to chemotherapy. A case report. ( 27330950 )
2016
31
Hemophagocytic lymphohistiocytosis as a paraneoplastic syndrome associated with ovarian dysgerminoma. ( 27354999 )
2016
32
An Incidental Finding of Bilateral Dysgerminoma During Cesarean Section: Dilemmas in Management. ( 27656514 )
2016
33
Dysgerminoma and gonadoblastoma in the course of Swyer syndrome. ( 28547971 )
2016
34
Paraneoplastic Cholestasis Associated With Ovarian Dysgerminoma. ( 25923022 )
2015
35
Dysgerminoma on a gonadoblastoma in a patient with Swyer syndrome treated with single incision laparoscopic surgery. ( 24960113 )
2015
36
A case of swyer syndrome associated with advanced gonadal dysgerminoma involving long survival. ( 25960730 )
2015
37
PRESUMPTIVE DYSGERMINOMA IN AN ORANGE-SPOT FRESHWATER STINGRAY (POTAMOTRYGON MOTORO). ( 26056900 )
2015
38
Ovarian dysgerminoma with normal serum tumour markers presenting in a child with precocious puberty. ( 26458677 )
2015
39
Pelvic mass in a young woman with a background of ovarian dysgerminoma: differential diagnosis. ( 26578506 )
2015
40
Gonadoblastoma with Dysgerminoma in a Phenotypically Turner-Like Girl with 45,X/46,XY Karyotype. ( 26777047 )
2015
41
Co-existence of a large ovarian hemangioma and microscopic dysgerminoma in a 10-year old child. ( 24272934 )
2014
42
Characterization of common marmoset dysgerminoma-like tumor induced by the lentiviral expression of reprogramming factors. ( 24521492 )
2014
43
Anti-Ma-associated encephalitis due to dysgerminoma in a woman with Swyer syndrome. ( 24711536 )
2014
44
Advanced ovarian dysgerminoma infiltrating both ovaries and uterus in a 7-year-old girl. ( 24716051 )
2014
45
46,XY female sex reversal syndrome with bilateral gonadoblastoma and dysgerminoma. ( 25187804 )
2014
46
Pediatric ovarian dysgerminoma presenting with hypercalcemia and chronic constipation: a case report. ( 23799522 )
2013
47
Fine needle aspiration cytology of Sertoli-Leydig cell tumors of ovary masquerading as dysgerminoma. ( 22102529 )
2013
48
Novel mutation of the sex-determining region on the Y chromosome in a 46,XY female patient with monolateral dysgerminoma: a case report. ( 22889418 )
2013
49
Mediastinal mass following successful chemotherapy for ovary dysgerminoma: benign process or disease relapse? A case report. ( 23332198 )
2013
50
Anti-Ma-associated encephalitis due to dysgerminoma in a woman with Swyer syndrome. ( 23486885 )
2013

Variations for Dysgerminoma

ClinVar genetic disease variations for Dysgerminoma:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KIT NM_000222.2(KIT): c.2447A> T (p.Asp816Val) single nucleotide variant Uncertain significance rs121913507 GRCh37 Chromosome 4, 55599321: 55599321
2 KIT NM_000222.2(KIT): c.2447A> T (p.Asp816Val) single nucleotide variant Uncertain significance rs121913507 GRCh38 Chromosome 4, 54733155: 54733155
3 KIT NM_000222.2(KIT): c.2446G> C (p.Asp816His) single nucleotide variant Pathogenic rs121913506 GRCh37 Chromosome 4, 55599320: 55599320
4 KIT NM_000222.2(KIT): c.2446G> C (p.Asp816His) single nucleotide variant Pathogenic rs121913506 GRCh38 Chromosome 4, 54733154: 54733154
5 BRCA1 NM_007294.3(BRCA1): c.1504_1508delTTAAA (p.Leu502Alafs) deletion Pathogenic rs80357888 GRCh37 Chromosome 17, 41246040: 41246044
6 BRCA1 NM_007294.3(BRCA1): c.1504_1508delTTAAA (p.Leu502Alafs) deletion Pathogenic rs80357888 GRCh38 Chromosome 17, 43094023: 43094027
7 KIT NM_000222.2(KIT): c.2850_2851insGT (p.Asp952Terfs) insertion other rs1553893816 GRCh37 Chromosome 4, 55604642: 55604643
8 KIT NM_000222.2(KIT): c.2850_2851insGT (p.Asp952Terfs) insertion other rs1553893816 GRCh38 Chromosome 4, 54738476: 54738477
9 SET NM_001122821.1(SET): c.814_815insA (p.Asp273Argfs) insertion other rs1554777032 GRCh37 Chromosome 9, 131456287: 131456287
10 SET NM_001122821.1(SET): c.814_815insA (p.Asp273Argfs) insertion other rs1554777032 GRCh38 Chromosome 9, 128694007: 128694008

Expression for Dysgerminoma

Search GEO for disease gene expression data for Dysgerminoma.

Pathways for Dysgerminoma

Pathways related to Dysgerminoma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.92 AFP ALPP WT1

GO Terms for Dysgerminoma

Cellular components related to Dysgerminoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.36 AFP BRCA1 ENO2 KIT KRT7 MUC1

Biological processes related to Dysgerminoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.67 PTEN PTHLH RNF139 WT1
2 positive regulation of gene expression GO:0010628 9.62 BRCA1 KIT PTEN WT1
3 positive regulation of ubiquitin-dependent protein catabolic process GO:2000060 9.26 PTEN RNF139
4 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.16 BRCA1 MUC1
5 negative regulation of histone acetylation GO:0035067 8.96 BRCA1 SET
6 positive regulation of male gonad development GO:2000020 8.62 SRY WT1

Sources for Dysgerminoma

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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