MCID: DYS101
MIFTS: 43

Dysgerminoma

Categories: Cancer diseases, Endocrine diseases, Reproductive diseases

Aliases & Classifications for Dysgerminoma

MalaCards integrated aliases for Dysgerminoma:

Name: Dysgerminoma 12 73 54 6 44 15

Classifications:



External Ids:

Disease Ontology 12 DOID:4441
MeSH 44 D004407
NCIt 50 C2996
SNOMED-CT 67 60718004
UMLS 70 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 are Pathways in cancer and Gastric cancer. The drugs Darbepoetin alfa and Durvalumab have been mentioned in the context of this disorder. Affiliated tissues include ovary, breast and lung, and related phenotypes are Decreased sensitivity to paclitaxel and cellular

Wikipedia : 73 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 454)
# Related Disease Score Top Affiliating Genes
1 pediatric ovarian dysgerminoma 32.5 PTHLH ENO2 ALPP
2 dysgerminoma of ovary 31.7 RNF139 PTHLH MIR371A KITLG KIT ALPP
3 gonadoblastoma 31.3 WT1 SRY KIT ALPP ALPG
4 gonadal dysgenesis 30.9 WT1 SRY KIT
5 mixed germ cell tumor 30.7 KIT AFP
6 ovarian gonadoblastoma 30.6 WT1 KIT AFP
7 seminoma 30.3 KIT INHA ENO2 ALPP ALPG AFP
8 ovarian germ cell cancer 30.2 MIR302C KRT7 KIT AFP
9 spermatocytoma 30.2 MIR371A KIT AFP
10 teratoma 30.1 PTEN KRT7 KRT20 KIT ENO2 AFP
11 clear cell adenocarcinoma 30.1 PTHLH KRT7 KRT20
12 mixed gonadal dysgenesis 30.0 SRY MIR302C KIT
13 germinoma 29.9 MIR371A KIT INHA ALPP AFP
14 ovarian brenner tumor 29.9 WT1 KRT7 KRT20
15 hemangioma 29.9 PTEN KRT7 KIT ENO2
16 ovarian mixed germ cell neoplasm 29.9 WT1 KIT AFP
17 central nervous system germinoma 29.9 MIR302C ALPP
18 leydig cell tumor 29.9 PTHLH INHA AFP
19 benign teratoma 29.8 KRT7 KRT20 ENO2 AFP
20 testicular germ cell tumor 29.8 MIR371A KITLG KIT AFP
21 ovarian germ cell teratoma 29.7 MIR302C KRT7 AFP
22 intrahepatic cholangiocarcinoma 29.7 KRT7 KRT20 FGFR2 AFP
23 cholangiocarcinoma 29.7 KRT7 KRT20 FGFR2 AFP
24 cystic teratoma 29.7 PTEN KRT7 KRT20 KIT ENO2
25 familial ovarian cancer 29.6 PTEN BRCA2 BRCA1
26 mature teratoma 29.5 MIR371A MIR302C KRT7 KIT ENO2 AFP
27 endodermal sinus tumor 29.5 MIR371A MIR302C KRT7 INHA ALPP ALPG
28 small cell carcinoma 29.4 PTEN KRT7 KRT20 KIT ENO2 BRCA2
29 testicular cancer 29.3 PTEN KITLG ENO2 ALPP AFP
30 malignant teratoma 29.3 MIR371A MIR302C KIT ENO2 AFP
31 cystadenoma 29.3 PTEN KRT7 KRT20 INHA BRCA1 AFP
32 germ cell cancer 29.2 MIR371A MIR302C KITLG KIT ENO2 ALPP
33 adenocarcinoma 29.1 PTEN KRT7 KRT20 KIT FGFR2 BRCA2
34 renal cell carcinoma, nonpapillary 29.1 WT1 RNF139 PTHLH PTEN KRT7 KRT20
35 sertoli-leydig cell tumor 29.1 WT1 MIR302C KRT7 INHA ENO2 ALPP
36 cryptorchidism, unilateral or bilateral 29.1 WT1 KITLG KIT ALPP ALPG AFP
37 serous cystadenocarcinoma 29.0 WT1 PTEN BRCA2 BRCA1 ALPP
38 rhabdomyosarcoma 28.8 WT1 PTEN KRT7 KIT ENO2 BRCA2
39 wilms tumor 1 28.7 WT1 SRY KRT7 ENO2 BRCA2
40 leukemia, acute myeloid 28.7 WT1 PTEN KITLG KIT BRCA2 BRCA1
41 skin carcinoma 28.4 PTHLH PTEN KRT7 KRT20 KITLG KIT
42 ovarian cancer 28.2 WT1 PTEN KRT7 KRT20 KIT INHA
43 pineal dysgerminoma 11.1
44 malignant dysgerminomatous germ cell tumor of the ovary 11.0
45 diencephalic syndrome 10.9
46 germ cells tumors 10.5
47 cervical adenoid cystic carcinoma 10.5 KRT7 KIT
48 ceruminous adenocarcinoma 10.4 KRT7 KIT
49 neuronal intestinal dysplasia, type b 10.4 KIT ENO2
50 auditory system benign neoplasm 10.4 KRT7 ENO2

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:

26
# 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.21 BRCA1 BRCA2 ENO2 FGFR2 KIT KITLG
2 endocrine/exocrine gland MP:0005379 10.11 AFP BRCA1 BRCA2 FGFR2 INHA KIT
3 digestive/alimentary MP:0005381 10.01 BRCA1 BRCA2 FGFR2 INHA KIT KITLG
4 liver/biliary system MP:0005370 9.91 AFP FGFR2 INHA KIT KITLG PTEN
5 limbs/digits/tail MP:0005371 9.87 BRCA1 BRCA2 FGFR2 KIT KITLG PTEN
6 neoplasm MP:0002006 9.85 AFP BRCA1 BRCA2 FGFR2 INHA KIT
7 normal MP:0002873 9.61 ALPG BRCA1 BRCA2 FGFR2 INHA KIT
8 reproductive system MP:0005389 9.4 AFP ALPG BRCA1 BRCA2 FGFR2 INHA

Drugs & Therapeutics for Dysgerminoma

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

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Darbepoetin alfa Approved, Investigational Phase 2 209810-58-2, 11096-26-7
2
Durvalumab Approved, Investigational Phase 2 1428935-60-7
3
Tremelimumab Investigational Phase 2 745013-59-6
4 Hematinics Phase 2
5 Antineoplastic Agents, Immunological Phase 2
6 Imatinib Mesylate Phase 2 220127-57-1 123596
7 Chorionic Gonadotropin Phase 2
8 Protein Kinase Inhibitors Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Randomized Phase II-Trial to Determine the Impact of Darbepoetin Alfa on the Frequency of RBC Transfusions in Patients With Metastatic "Poor Prognosis" Germ Cell Tumor Treated With High-Dose Chemotherapy (HD-VIP Regimen) Completed NCT00204633 Phase 2 Darbepoetin alfa
2 A Single-arm, Phase II Study of Durvalumab (MEDI4736) and Tremelimumab for Relapsed/Refractory Germ Cell Tumors Recruiting NCT03158064 Phase 2 Durvalumab;Tremelimumab
3 A Phase II Study Of Imatinib Mesylate (Gleevec, Formerly Known As STI571; IND 61,135, NSC #716051) In Patients With Refractory Seminoma Terminated NCT00042952 Phase 2 imatinib mesylate
4 A Prospective Study of Cognitive Function During Chemotherapy for Front-Line Treatment of Ovarian, Primary Peritoneal or Fallopian Tube Cancer Completed NCT01080521
5 Immunohistochemical Evaluation of Protein P16 Expression in Ovarian Germ Cell Tumors. Recruiting NCT04283773

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:

40
Ovary, Breast, Lung, Pineal, Kidney, Testis, Thymus

Publications for Dysgerminoma

Articles related to Dysgerminoma:

(show top 50) (show all 1199)
# Title Authors PMID Year
1
Bilateral gonadoblastoma with dysgerminoma and pilocytic astrocytoma with WT1 GT-IVS9 mutation: A 46 XY phenotypic female with Frasier syndrome. 61 54
19653292 2009
2
Could ovarian choriocarcinoma be detected by maternal serum screening for Down syndrome? 54 61
17533625 2007
3
[Malignant ovarian germ cell tumours: a trial of 36 cases]. 61 54
17350873 2007
4
Mixed ovarian germ cell tumor in a BRCA2 mutation carrier. 61 54
17413983 2007
5
Ovarian dysgerminomas are characterised by frequent KIT mutations and abundant expression of pluripotency markers. 54 61
17274819 2007
6
Cytokeratin and CD30 expression in dysgerminoma. 61 54
16867864 2006
7
Expression of CD117 (c-kit) receptor in dysgerminoma of the ovary: diagnostic and therapeutic implications. 54 61
16056250 2005
8
c-KIT codon 816 mutation in a recurrent and metastatic dysgerminoma of a 14-year-old girl: case study. 54 61
15455230 2004
9
c-kit gene mutations in intracranial germinomas. 54 61
15471556 2004
10
KIT mutations are common in testicular seminomas. 61 54
14695343 2004
11
The proto-oncogene c-kit is expressed in leiomyosarcomas of the uterus. 61 54
12893208 2003
12
XY female with a dysgerminoma and no mutation in the coding sequence of the SRY gene. 54 61
12165453 2002
13
Primary ovarian dysgerminoma in a patient with a germline BRCA1 mutation. 61 54
11109172 2000
14
SRY mutation and tumor formation on the gonads of XP pure gonadal dysgenesis patients. 54 61
10459352 1999
15
Activating c-kit gene mutations in human germ cell tumors. 61 54
10362788 1999
16
Ovarian dysgerminoma showing high serum levels and positive immunostaining of placental alkaline phosphatase and neuron-specific enolase associated with elevation of serum prolactin level. 61 54
9846727 1998
17
Ovarian mixed germ cell tumor composed of dysgerminoma, endodermal sinus tumor, choriocarcinoma and mature teratoma in a 44-year-old woman: case report and literature review. 61 54
9702861 1998
18
Dysgerminoma of the ovary with hypercalcemia associated with elevated parathyroid hormone-related protein. 54 61
7596049 1995
19
Preferential localization of c-kit product in tissue mast cells, basal cells of skin, epithelial cells of breast, small cell lung carcinoma and seminoma/dysgerminoma in human: immunohistochemical study on formalin-fixed, paraffin-embedded tissues. 61 54
7514077 1994
20
Serum AFP, hCG and CEA in the management of patients with testicular, ovarian and extragonadal germ cell tumors. 61 54
1378875 1992
21
Serum placental alkaline phosphatase (PLAP) in gynecologic malignancies--with special reference to the combination of PLAP and CA54/61 assay. 61 54
2178810 1990
22
Extraovarian dysgerminoma in a pregnant woman: an extremely rare finding. 61
33129566 2021
23
Metastatic dysgerminoma in a young patient with 46 XY DSD: A rare case report. 61
33490353 2021
24
Dysgerminoma of the Ovary: An Analysis of 140 Cases Emphasizing Unusual Microscopic Findings and Resultant Diagnostic Problems. 61
33577182 2021
25
Clinicopathological Features, Prognostic Factors, Survival Trends, and Treatment of Malignant Ovarian Germ Cell Tumors: A SEER Database Analysis. 61
33706324 2021
26
Ovarian Dysgerminoma in Pregnant Women with Viable Fetus: A Rare Case Report. 61
33776695 2021
27
Dysgerminoma with a Somatic Exon 17 KIT Mutation and SHH Pathway Activation in a Girl with Turner Syndrome. 61
33321690 2020
28
Malignant Mixed Germ Cell Tumors of the Ovary: An Analysis of 100 Cases Emphasizing the Frequency and Interrelationships of Their Tumor Types. 61
33284192 2020
29
The individualized significance of lymphadenectomy across all age groups and histologies in malignant ovarian germ cell tumors. 61
32888090 2020
30
XY Gonadal Dysgenesis in a Phenotypic Female Identified by Direct-to-Consumer Genetic Testing. 61
33060256 2020
31
Ovarian dysgerminoma detected by 18F-FDG PET/CT technique: A case report. 61
33157971 2020
32
An aggressive systemic mastocytosis preceded by ovarian dysgerminoma. 61
33246418 2020
33
Pregnancy with giant ovarian dysgerminoma: A case report and literature review. 61
33031254 2020
34
[Management of intra-abdominal dysgerminoma During pregnancy - A Case Report and Literature Review]. 61
32242331 2020
35
Dysgerminoma in a Prepubertal Girl with Complete 46XY Gonadal Dysgenesis: Case Report and Review of the Literature. 61
32380037 2020
36
Neoplasia in Turner syndrome: a retrospective cohort study in a tertiary referral centre in Belgium. 61
32780684 2020
37
Primary extragonadal vaginal yolk sac tumour: A case report. 61
32860387 2020
38
Ovarian Dysgerminoma: A Tertiary Center Experience. 61
32762565 2020
39
Pineal Dysgerminoma: A Misleading Clinical Course With Potential Life-Threatening Consequences. 61
32850234 2020
40
A retrospective analysis on the outcome of 18 dogs with malignant ovarian tumours. 61
32700381 2020
41
Bilateral Gonadoblastoma With Dysgerminoma in a Phenotypically Normal Female With 46XX Karyotype: Report of a Rare Case and Literature Review. 61
32775072 2020
42
46, XY complete gonadal dysgenesis with pubertal virilisation due to dysgerminoma/gonadoblastoma. 61
32641439 2020
43
Hemoptysis: A Rare Presentation of Mixed Gonadal Dysgenesis. 61
33311912 2020
44
Ovarian Diffuse Large B-cell Lymphoma Initially Suspected Dysgerminoma Managed by Laparoscopic Staging Surgery. 61
33101919 2020
45
Pure dysgerminoma of the ovary: CT and MRI features with pathological correlation in 13 tumors. 61
32552845 2020
46
True hermaphroditism with dysgerminoma: A case report. 61
32481455 2020
47
Role of staging surgery and adjuvant chemotherapy in adult patients with apparent stage I pure immature ovarian teratoma after fertility-sparing surgery. 61
32179695 2020
48
Seminoma In A Young Phenotypic Female With Turner Syndrome 45,XO/46,XY Mosaicism: A Case Report With Review Of The Literature. 61
32057790 2020
49
Atypical presentations of intracranial dysgerminoma mimicking central nervous system inflammatory or demyelinating disease. 61
31712009 2020
50
Trends in the surgical management of malignant ovarian germcell tumors. 61
32008791 2020

Variations for Dysgerminoma

ClinVar genetic disease variations for Dysgerminoma:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SET NM_003011.4(SET):c.777dup (p.Asp260fs) Duplication other 438789 rs1554777032 GRCh37: 9:131456286-131456287
GRCh38: 9:128694007-128694008
2 KIT NM_000222.2(KIT):c.2851_2852dup (p.Val951_Asp952insTer) Duplication other 438769 rs1553893816 GRCh37: 4:55604642-55604643
GRCh38: 4:54738476-54738477
3 KIT NM_000222.3(KIT):c.2447A>T SNV other 13852 rs121913507 GRCh37: 4:55599321-55599321
GRCh38: 4:54733155-54733155
4 KIT NM_000222.3(KIT):c.2446G>C SNV other 13863 rs121913506 GRCh37: 4:55599320-55599320
GRCh38: 4:54733154-54733154
5 BRCA1 NM_007294.4(BRCA1):c.1504_1508del (p.Leu502fs) Deletion other 37417 rs80357888 GRCh37: 17:41246040-41246044
GRCh38: 17:43094023-43094027

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 12.38 PTEN KITLG KIT FGFR2 BRCA2
2
Show member pathways
12.22 PTEN KIT FGFR2 BRCA2 BRCA1
3 11.05 WT1 KITLG ALPP AFP
4 10.98 PTEN KIT FGFR2

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 9.5 WT1 TSN SRY PTHLH PTEN KRT7

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.8 PTHLH PTEN KITLG KIT FGFR2
2 positive regulation of gene expression GO:0010628 9.77 WT1 SRY PTEN KIT BRCA1
3 positive regulation of male gonad development GO:2000020 9.32 WT1 SRY
4 ectopic germ cell programmed cell death GO:0035234 9.26 KITLG KIT
5 chordate embryonic development GO:0043009 9.16 BRCA2 BRCA1
6 ovarian follicle development GO:0001541 9.13 KITLG KIT INHA
7 male gonad development GO:0008584 8.92 WT1 KITLG KIT INHA

Molecular functions related to Dysgerminoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 alkaline phosphatase activity GO:0004035 8.62 ALPP ALPG

Sources for Dysgerminoma

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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