TGCT
MCID: TST021
MIFTS: 61

Testicular Germ Cell Tumor (TGCT)

Categories: Cancer diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Testicular Germ Cell Tumor

MalaCards integrated aliases for Testicular Germ Cell Tumor:

Name: Testicular Germ Cell Tumor 57 20 58 72 17 70
Male Germ Cell Tumor 57 72 13 70
Spermatocytic Seminoma 58 72 70
Testicular Teratoma 58 54 17
Spermatocytic Seminoma, Somatic 57 6
Male Germ Cell Tumor, Somatic 57 6
Testicular Tumor, Somatic 57 6
Germ Cell Tumor of Testis 20 58
Embryonal Cell Carcinoma 72 70
Endodermal Sinus Tumor 58 72
Yolk Sac Tumor 58 70
Seminoma 72 70
Tgct 57 72
Mgct 57 72
Malignant Testicular Non-Seminomatous Germ Cell Tumor 70
Testicular Non-Dysgerminomatous Germ Cell Tumor 58
Non-Dysgerminomatous Germ Cell Tumor of Testis 58
Testicular Non Seminomatous Germ Cell Tumor 58
Testicular Non-Seminomatous Germ Cell Tumor 70
Non-Seminomatous Germ Cell Tumor of Testis 58
Testicular Seminomatous Germ Cell Tumor 58
Seminomatous Germ Cell Tumor of Testis 58
Nonseminomatous Germ Cell Tumors 72
Nonseminomatous Germ Cell Tumor 70
Tumor, Germ Cell, Testicular 39
Male Germ Cell Tumor; Mgct 57
Germ Cell Tumors, Somatic 57
Germ Cell Tumor, Somatic 6
Embryonal Carcinoma Cell 17
Teratoma of the Testis 58
Testicular Seminoma 58
Teratoma Testicular 72
Seminoma of Testis 58
Teratoma of Testis 70

Characteristics:

Orphanet epidemiological data:

58
testicular seminomatous germ cell tumor
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe),1-5/10000 (Europe); Age of onset: Adult; Age of death: adult,elderly,young Adult;
non-seminomatous germ cell tumor of testis
Prevalence: 1-9/100000 (Europe),1-5/10000 (Europe);
testicular teratoma
Prevalence: <1/1000000 (Europe);
spermatocytic seminoma
Prevalence: <1/1000000 (Europe); Age of onset: Adolescent,Adult; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
somatic mutation

Miscellaneous:
two subtypes - seminoma and nonseminoma
occasionally germ cell tumor arise from extra gonadal site (e.g., mediastinum, retroperitoneum, pineal gland)
most common cancer in men aged 15-40 years
highest incidence in men of european descent
risk factors for development of tgct - family history, cryptorchidism , testicular feminization , klinefelter syndrome, previous tgct, gonadal dysgenesis


HPO:

31
testicular germ cell tumor:
Inheritance somatic mutation sporadic


Classifications:

Orphanet: 58  
Rare urogenital diseases


External Ids:

OMIM® 57 273300
ICD10 via Orphanet 33 C56 C62.1 C62.9
UMLS via Orphanet 71 C0014145 C0036631 C0238451 more
UMLS 70 C0014145 C0036631 C0238451 more

Summaries for Testicular Germ Cell Tumor

OMIM® : 57 Testicular germ cell tumors (TGCTs) affect 1 in 500 men and are the most common cancer in males aged 15 to 40 in western European populations. The incidence of TGCT rose dramatically during the 20th century. Known risk factors for TGCT include a history of undescended testis (UDT), testicular dysgenesis, infertility, previously diagnosed TGCT, and a family history of the disease. Brothers of men with TGCT have an 8- to 10-fold risk of developing TGCT, whereas the relative risk to fathers and sons is 4-fold. This familial relative risk is much higher than that for most other types of cancer (summary by Rapley et al., 2000). (273300) (Updated 20-May-2021)

MalaCards based summary : Testicular Germ Cell Tumor, also known as male germ cell tumor, is related to testicular cancer and mixed germ cell cancer. An important gene associated with Testicular Germ Cell Tumor is KIT (KIT Proto-Oncogene, Receptor Tyrosine Kinase), and among its related pathways/superpathways are Pathways in cancer and MAPK signaling pathway. The drugs Granisetron and Ondansetron have been mentioned in the context of this disorder. Affiliated tissues include testis, thyroid and pineal, and related phenotypes are azoospermia and elevated alpha-fetoprotein

UniProtKB/Swiss-Prot : 72 Testicular germ cell tumor: A common malignancy in males representing 95% of all testicular neoplasms. TGCTs have various pathologic subtypes including: unclassified intratubular germ cell neoplasia, seminoma (including cases with syncytiotrophoblastic cells), spermatocytic seminoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, and teratoma.

Related Diseases for Testicular Germ Cell Tumor

Diseases in the Testicular Germ Cell Tumor family:

Testicular Germ Cell Tumor 1

Diseases related to Testicular Germ Cell Tumor via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 745)
# Related Disease Score Top Affiliating Genes
1 testicular cancer 32.5 STK11 SPRY4 KITLG FGFR3 BCL10
2 mixed germ cell cancer 31.9 MIR371A KIT
3 testicular germ cell cancer 31.5 SPRY4 MIR373 MIR372 MIR371A MIR367 KITLG
4 mature teratoma 31.1 MIR371A KIT BRAF
5 brain germinoma 30.8 SPRY4 KIT
6 testicular spermatocytic seminoma 30.7 HRAS FGFR3
7 dysgerminoma 30.6 MIR371A KITLG KIT
8 dysgerminoma of ovary 30.6 MIR371A KITLG KIT
9 dowling-degos disease 1 30.6 STK11 KITLG KIT FGFR3
10 pediatric germ cell cancer 30.4 SPRY4 MIR371A
11 spermatocytoma 30.3 MIR371A LRRC56 KIT HRAS FGFR3
12 uterine carcinosarcoma 30.3 LRRC56 KIT HRAS
13 adenocarcinoma 30.2 STK11 KIT HRAS FGFR3 BRAF
14 colorectal adenocarcinoma 30.2 KIT HRAS BRAF
15 testicular disease 30.2 SPRY4 MIR371A KITLG KIT
16 ovarian serous cystadenocarcinoma 30.1 LRRC56 HRAS BRAF
17 gastric adenocarcinoma 30.1 LRRC56 KIT HRAS BRAF
18 bladder urothelial carcinoma 30.1 LRRC56 HRAS FGFR3 BRAF
19 gastrointestinal stromal tumor 30.1 MIR133B KITLG KIT FGFR3 BRAF
20 mast-cell sarcoma 30.1 KITLG KIT
21 renal cell carcinoma, papillary, 1 29.8 LRRC56 KIT HRAS FGFR3 BRAF
22 lynch syndrome 29.6 STK11 HRAS FGFR3 BRAF
23 rectum cancer 29.6 MIR371A MIR145 HRAS
24 skin carcinoma 29.6 STK11 MIR140 LRRC56 KITLG KIT HRAS
25 gliosarcoma 29.6 LRRC56 HRAS FGFR3 BRAF
26 thyroid gland anaplastic carcinoma 29.5 KIT HRAS BRAF
27 germ cell cancer 29.5 SPRY4 MIR373 MIR372 MIR371A MIR367 MIR302D
28 lymphoma, non-hodgkin, familial 29.2 MIR373 MIR140 KITLG BRAF BCL10
29 renal cell carcinoma, nonpapillary 29.1 MIR200C MIR145 MIR140 KIT HRAS BRAF
30 lung cancer susceptibility 3 28.8 STK11 MIR200C MIR145 LRRC56 HRAS FGFR3
31 melanoma 28.7 STK11 MIR302D MIR200C MIR140 LRRC56 KIT
32 leukemia, chronic lymphocytic 28.7 MIR373 MIR145 MIR140 LRRC56 HRAS BRAF
33 gastrointestinal system disease 28.6 MIR373 MIR371A MIR200C MIR145 MIR140
34 leukemia, acute myeloid 28.5 MIR372 MIR367 MIR302D MIR140 LRRC56 KITLG
35 esophageal cancer 28.4 MIR373 MIR200C MIR145 MIR140 LRRC56 HRAS
36 testicular germ cell tumor 1 11.7
37 childhood endodermal sinus tumor 11.6
38 ovarian endodermal sinus tumor 11.6
39 pediatric testicular germ cell tumor 11.6
40 vaginal yolk sac tumor 11.5
41 adult endodermal sinus tumor 11.5
42 childhood ovarian endodermal sinus tumor 11.5
43 yolk sac tumor of central nervous system 11.5
44 pineal region yolk sac tumor 11.4
45 pediatric cns embryonal cell carcinoma 11.4
46 macrocystic pattern testicular yolk sac tumor 11.4
47 solid pattern testicular yolk sac tumor 11.4
48 glandular-alveolar pattern testicular yolk sac tumor 11.4
49 myxomatous pattern testicular yolk sac tumor 11.4
50 papillary pattern testicular yolk sac tumor 11.4

Graphical network of the top 20 diseases related to Testicular Germ Cell Tumor:



Diseases related to Testicular Germ Cell Tumor

Symptoms & Phenotypes for Testicular Germ Cell Tumor

Human phenotypes related to Testicular Germ Cell Tumor:

31
# Description HPO Frequency HPO Source Accession
1 azoospermia 31 HP:0000027
2 elevated alpha-fetoprotein 31 HP:0006254
3 teratoma 31 HP:0009792
4 choriocarcinoma 31 HP:0100768
5 embryonal neoplasm 31 HP:0002898

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Genitourinary Internal Genitalia Male:
painless testicular mass

Laboratory Abnormalities:
isochromosome 12p (i(12p))
elevated hcg (choriocarcinoma)
elevated afp (endodermal sinus tumor)
elevated hcg or afp or both (embryonal carcinoma)
azoospermia/oligospermia (present at diagnosis)

Neoplasia:
male germ cell tumors (gct), 2 subtypes -
seminoma
nonseminoma (embryonal carcinoma, teratoma, choriocarcinoma, endodermal sinus tumor)

Clinical features from OMIM®:

273300 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Testicular Germ Cell Tumor:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.17 BRAF FGFR3 HRAS KIT KITLG SPRY4

Drugs & Therapeutics for Testicular Germ Cell Tumor

Drugs for Testicular Germ Cell Tumor (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 160)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Granisetron Approved, Investigational Phase 3 109889-09-0 3510
2
Ondansetron Approved Phase 3 99614-02-5 4595
3
Palivizumab Approved, Investigational Phase 3 188039-54-5
4
Ribavirin Approved Phase 3 36791-04-5 37542
5
Captopril Approved Phase 3 62571-86-2 44093
6
Amphotericin B Approved, Investigational Phase 3 1397-89-3 14956 5280965
7
Clotrimazole Approved, Vet_approved Phase 3 23593-75-1 2812
8
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
9
Caspofungin Approved Phase 3 162808-62-0, 179463-17-3 468682 2826718
10
Fluconazole Approved, Investigational Phase 3 86386-73-4 3365
11
Itraconazole Approved, Investigational Phase 3 84625-61-6 55283
12
Selenium Approved, Investigational, Vet_approved Phase 3 7782-49-2
13
Midazolam Approved, Illicit Phase 3 59467-70-8 4192
14
Tocopherol Approved, Investigational Phase 3 1406-66-2
15
Etoposide Approved Phase 3 33419-42-0 36462
16
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
17
Paclitaxel Approved, Vet_approved Phase 3 33069-62-4 36314
18
Diphenhydramine Approved, Investigational Phase 3 147-24-0, 58-73-1 3100
19
Promethazine Approved, Investigational Phase 3 60-87-7 4927
20
Bleomycin Approved, Investigational Phase 3 11056-06-7 5360373
21
Cisplatin Approved Phase 3 15663-27-1 84093 441203 2767
22
Ifosfamide Approved Phase 3 3778-73-2 3690
23
Vinblastine Approved Phase 3 865-21-4 13342 241903
24
Vitamin C Approved, Nutraceutical Phase 3 50-81-7 5785 54670067
25
Methionine Approved, Nutraceutical Phase 3 63-68-3 6137
26
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
27
Aspartic acid Approved, Nutraceutical Phase 3 56-84-8 5960
28 Tocotrienol Investigational Phase 3 6829-55-6
29 Neurotransmitter Agents Phase 3
30 Anti-Infective Agents Phase 3
31 Antiviral Agents Phase 3
32 Cola Phase 3
33 Psychotropic Drugs Phase 3
34 Liver Extracts Phase 3
35 Antipsychotic Agents Phase 3
36 Anti-Anxiety Agents Phase 3
37 Angiotensin-Converting Enzyme Inhibitors Phase 3
38 Antihypertensive Agents Phase 3
39 HIV Protease Inhibitors Phase 3
40
protease inhibitors Phase 3
41 Liposomal amphotericin B Phase 3
42 Antiparasitic Agents Phase 3
43 Antifungal Agents Phase 3
44 Antiprotozoal Agents Phase 3
45 Amebicides Phase 3
46 Cytochrome P-450 CYP3A Inhibitors Phase 3
47
Hydroxyitraconazole Phase 3 108222
48 Cytochrome P-450 Enzyme Inhibitors Phase 3
49 Vitamins Phase 3
50 Antioxidants Phase 3

Interventional clinical trials:

(show top 50) (show all 95)
# Name Status NCT ID Phase Drugs
1 A Phase 4, Multicenter Study to Evaluate Discontinuation and Re-Treatment in Subjects With Tenosynovial Giant Cell Tumor (TGCT) Previously Treated With Pexidartinib Recruiting NCT04526704 Phase 4 Pexidartinib
2 Trial of Imaging and Schedule in Seminoma Testis Unknown status NCT00589537 Phase 3
3 A Study to Investigate the Efficacy and Tolerability of Two Dose Levels of Lerisetron Compared With Granisetron in Patients Receiving Radiotherapy for Stage I Seminoma Unknown status NCT00004219 Phase 3 granisetron hydrochloride;lerisetron
4 Randomized Phase II/III Study of Taxol/Paclitaxel-BEP Versus BEP in Patients With Intermediate Prognosis Germ Cell Cancer Unknown status NCT00003643 Phase 2, Phase 3 cisplatin;etoposide;paclitaxel
5 A Phase III Study Of Reduced Therapy In The Treatment Of Children With Low And Intermediate Risk Extracranial Germ Cell Tumors Unknown status NCT00053352 Phase 3 cisplatin;etoposide
6 RANDOMIZED MULTIINSTITUTIONAL PHASE III TRIAL OF BEP AND HIGH DOSE CHEMOTHERAPY VERSUS BEP ALONE IN PREVIOUSLY UNTREATED PATIENTS WITH POOR RISK GERM CELL TUMORS Completed NCT00002596 Phase 3 carboplatin;cisplatin;cyclophosphamide;etoposide
7 Carboplatin in the Adjuvant Treatment of Stage I Seminoma: A Radomized Comparison of Single Agent Carboplatin With Radiotherapy in the Adjuvant Treatment of Stage I Seminoma of the Testis, Following Orchidectomy Completed NCT00003014 Phase 3 carboplatin
8 A Randomized Phase III Double-Blind Study Of Ondansetron And Dexamethasone Versus Ondansetron And Placebo In The Prophylaxis Of Radiation-Induced Emesis Completed NCT00016380 Phase 3 dexamethasone;ondansetron
9 A Randomized Double-Blind Placebo-Controlled Phase III Study To Evaluate The Safety And Efficacy Of Palivizumab Combined With Aerosolized Ribavirin Compared To Ribavirin Alone To Treat RSV Pneumonia In Patients With Bone Marrow Transplants (BMT) Completed NCT00014391 Phase 3 ribavirin
10 Phase III Study of Captopril in Patients Undergoing Autologous Bone Marrow/Stem Cell Transplantation Completed NCT00004230 Phase 3 captopril;cyclophosphamide
11 A Randomized Phase III Study of Sequential High-Dose Cisplatinum/Etoposide/Ifosfamide Plus Stem Cell Support Versus BEP in Patients With Poor Prognosis Germ Cell Cancer Completed NCT00003941 Phase 3 cisplatin;etoposide;ifosfamide
12 A Strategic Study to Determine the Optimal Moment to Initiate Systemic Antifungal Therapy With Ambisome in Granulocytopenic Cancer Patients With Unexplained Fever Refractory to Empirical Antibacterials Completed NCT00003938 Phase 3 liposomal amphotericin B
13 A Multicenter, Double-Blind, Randomized, Comparative Study To Evaluate The Safety, Tolerability, And Efficacy Of MK-0991 Versus (Amphotericin B) Liposome For Injection As Empirical Therapy In Patients With Persistent Fever And Neutropenia Completed NCT00008359 Phase 3 caspofungin acetate;liposomal amphotericin B
14 A Randomized, Comparative Study of Itraconazole Versus Fluconazole for Prevention of Aspergillus Infections in Peripheral Blood Stem Cell and Marrow Transplant Recipients Completed NCT00003883 Phase 3 fluconazole;itraconazole
15 Double Blind Randomised Controlled Trial to Investigate the Efficacy of ANTOX (Vers) 1.2 and MGCT (Magnesiocard) for the Treatment of Hereditary Pancreatitis and Idiopathic Chronic Pancreatitis Completed NCT00142233 Phase 3 Magnesium
16 A Randomized Phase III Trial Comparing Conventional-Dose Chemotherapy Using Paclitaxel, Ifosfamide, and Cisplatin (TIP) With High-Dose Chemotherapy Using Mobilizing Paclitaxel Plus Ifosfamide Followed by High-Dose Carboplatin and Etoposide (TI-CE) as First Salvage Treatment in Relapsed or Refractory Germ Cell Tumors Recruiting NCT02375204 Phase 3 paclitaxel;ifosfamide;cisplatin;pegylated G-CSF;G-CSF;carboplatin;etoposide phosphate
17 A Phase 3 Study of Active Surveillance for Low Risk and a Randomized Trial of Carboplatin vs. Cisplatin for Standard Risk Pediatric and Adult Patients With Germ Cell Tumors Recruiting NCT03067181 Phase 3 Bleomycin;Carboplatin;Cisplatin;Etoposide;Etoposide Phosphate
18 A Randomized Phase III Study Comparing One Course of Adjuvant Bleomycin, Etoposide and Cisplatin (BEP) and One Course of Carboplatin AUC7 in Clinical Stage I Seminomatous Testicular Cancer Recruiting NCT02341989 Phase 3 Bleomycin Etoposide and Cisplatin;Carboplatin
19 A Single Group Trial Evaluating One Cycle of Adjuvant BEP Chemotherapy in High Risk, Stage 1 Non-seminomatous Germ Cell Tumours of the Testis (NSGCTT) Active, not recruiting NCT01726374 Phase 3 BEP(500)
20 A Randomized Phase III Study of Paclitaxel, Ifosfamide and Cisplatin Versus Vinblastine, Ifosfamide and Cisplatin as Second-Line Therapy for Patients With Relapsed/Resistant Germ Cell Tumors Terminated NCT00072215 Phase 3 cisplatin;ifosfamide;paclitaxel;vinblastine
21 Phase I/II Multicentre Trial of Salvage Chemotherapy With Gem-TIP for Relapsed Germ Cell Cancer Unknown status NCT00551122 Phase 1, Phase 2 cisplatin;gemcitabine hydrochloride;ifosfamide;paclitaxel
22 A Prospective Phase II Trial of Cabazitaxel in Male Patients With Chemotherapy Pre-treated Metastatic Nonseminomatous Germ-cell Tumors Unknown status NCT02115165 Phase 2 Cabazitaxel
23 Phase II Study of Imatinib Mesylate in Patients With Life Threatening Malignant Rare Diseases Completed NCT00154388 Phase 2 Imatinib mesylate
24 A Study of Paclitaxel, Cisplatin and Ifosfamide as Induction Therapy in the Treatment of Patients Relapsing After BEP Chemotherapy for Metastatic Germ Cell Tumors Completed NCT00004077 Phase 2 cisplatin;ifosfamide;paclitaxel
25 A Phase II Study of Sunitinib in Patients With Refractory or Relapsed Germ Cell Tumors Completed NCT00453310 Phase 2 sunitinib malate
26 Accelerated BEP Chemotherapy for Intermediate and High Risk Metastatic Germ Cell Tumor Completed NCT00453232 Phase 2 cisplatin;etoposide
27 A Phase II Study of BMS-247550 In Advanced Germ Cell Tumor Patients - THERAPEUTIC/DIAGNOSTIC PROTOCOL Completed NCT00070096 Phase 2 ixabepilone
28 Tandem High-Dose Chemotherapy With Autologous Stem Cell Rescue for Poor-Prognosis Germ Cell Cancer Completed NCT00002931 Phase 2 carboplatin;etoposide;ifosfamide;paclitaxel
29 PHASE II TRIAL WITH DOCETAXEL IN PATIENTS WITH RELAPSING GERM CELL CANCER Completed NCT00002903 Phase 2 docetaxel
30 Phase II Trial of Paclitaxel, Ifosfamide, and Cisplatin in Previously Untreated Intermediate and Poor Risk Germ Cell Tumor Patients Completed NCT00470366 Phase 2 cisplatin;ifosfamide;paclitaxel
31 A PHASE II STUDY OF CELLULAR ADOPTIVE IMMUNOTHERAPY AS PROPHYLAXIS FOR CYTOMEGALOVIRUS DISEASE AFTER ALLOGENEIC BONE MARROW TRANSPLANTATION Completed NCT00002673 Phase 2
32 Oral Beclomethasone Dipropionate Capsules for Treatment of Intestinal Graft-Versus-Host Disease: Compassionate Use in Patients With Contraindictions to High-Dose Immunosuppressive Therapy Completed NCT00010283 Phase 1, Phase 2 beclomethasone dipropionate
33 Combination of Interleukin 11 (Neumega) With G-CSF to Mobilize Autologous Peripheral Blood Stem Cells (PBSC) Completed NCT00004157 Phase 2
34 Donor Lymphocyte Infusion (DLI) as Adoptive Immunotherapy for Relapse Malignancies After Allogeneic Hematopoietic Transplantation Completed NCT00003887 Phase 2
35 Cytokine-Based Immunotherapy Following High-Dose Chemotherapy and Autologous Stem Cell Transplantation Completed NCT00003408 Phase 2
36 PROTOCOL FOR THE TREATMENT OF MALIGNANT NON-TESTICULAR GERM CELL TUMORS Completed NCT00002489 Phase 2 carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;leucovorin calcium;methotrexate;vincristine sulfate
37 Treatment of Recurrent or Resistant Pediatric Malignant Germ Cell Tumors With Paclitaxel, Ifosfamide and Carboplatin Completed NCT00467051 Phase 2 Carboplatin;Ifosfamide;Paclitaxel
38 Randomized Phase II Trial of Intensive Induction Chemotherapy (CBOP/BEP) and Standard BEP Chemotherapy in Poor Prognosis Male Germ Cell Tumors Completed NCT00301782 Phase 2 carboplatin;cisplatin;etoposide phosphate;vincristine sulfate
39 Phase II Study of Nilotinib Efficacy in Pigmented Villo-Nodular Synovitis/ Tenosynovial Giant Cell Tumour (PVNS/TGCT) Completed NCT01261429 Phase 2 Tasigna
40 A Phase 1/2 Study of Cabiralizumab, an Anti-CSF1 Receptor Antibody, in Patients With Pigmented Villonodular Synovitis (PVNS)/ Diffuse Type Tenosynovial Giant Cell Tumor (Dt-TGCT) Completed NCT02471716 Phase 1, Phase 2
41 A Non-randomized Phase 2 Study of Alvocidib (Flavopiridol) Plus Oxaliplatin With or Without 5-FU and Leucovorin for Relapsed or Refractory Germ-Cell Tumors Completed NCT00957905 Phase 2 Alvocidib Hydrochloride;Fluorouracil;Leucovorin Calcium;Oxaliplatin
42 A Multi-Centre Phase II Study Using Carboplatin AUC-10 for Metastatic Seminoma With IGCCCG Good Prognosis Disease-Therapy Directed by Initial Metabolic Response on PET-CT Completed NCT02272816 Phase 2 Carboplatin AUC-10
43 A Prospective,Multicenter, Phase II Study to Evaluate the Contribution of the Imaging TEP to the Expression of intégrines αvβ3 for the Characterization of the Residual Masses of Non-seminoma Tumors at the End of Chemotherapy Completed NCT02317393 Phase 2
44 Phase II Trial of the Cyclin-Dependent Kinase Inhibitor PD 0332991 in Patients With Cancer Completed NCT01037790 Phase 2 PD-0332991
45 Phase II Single-arm Trial to Evaluate Progression Free Survival With Primary Retroperitoneal Lymph-node Dissection (pRPLND) Only in Patients With Seminomatous Testicular Germ Cell Tumors With Clinical Stage IIA/B (PRIMETEST) Recruiting NCT02797626 Phase 2
46 Therapeutic Strategy Guided by PET-TDM for Patients With Grade I or Metastatic Seminoma Recruiting NCT01887340 Phase 2 Carboplatin;Etoposide;Cisplatin
47 Phase II Study of Disulfiram and Cisplatin in Refractory TGCTs. Recruiting NCT03950830 Phase 2 Disulfiram
48 Reduced Intensity Radio-chemotherapy for Stage IIA/B Seminoma. A Multicenter, Open Label Phase II Trial With Two Cohorts Recruiting NCT03937843 Phase 2 Carboplatin;Cisplatin;Etoposide
49 DART: Dual Anti-CTLA-4 and Anti-PD-1 Blockade in Rare Tumors Recruiting NCT02834013 Phase 2
50 A Single-arm, Phase II Study of Durvalumab (MEDI4736) and Tremelimumab for Relapsed/Refractory Germ Cell Tumors Recruiting NCT03158064 Phase 2 Durvalumab;Tremelimumab

Search NIH Clinical Center for Testicular Germ Cell Tumor

Genetic Tests for Testicular Germ Cell Tumor

Anatomical Context for Testicular Germ Cell Tumor

MalaCards organs/tissues related to Testicular Germ Cell Tumor:

40
Testis, Thyroid, Pineal, Ovary, Lymph Node, Kidney, Bone

Publications for Testicular Germ Cell Tumor

Articles related to Testicular Germ Cell Tumor:

(show top 50) (show all 729)
# Title Authors PMID Year
1
Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors. 6 57
19855393 2009
2
Mutations of BRAF and RAS are rare events in germ cell tumours. 6 57
15386408 2005
3
Point mutations and deletions of the Bcl10 gene in solid tumors and malignant lymphomas. 57 6
10582682 1999
4
Lack of Bcl10 mutations in testicular germ cell tumours and derived cell lines. 57 6
10408400 1999
5
Activating c-kit gene mutations in human germ cell tumors. 6 57
10362788 1999
6
Lack of BCL10 mutations in germ cell tumors and B cell lymphomas. 6 57
10380920 1999
7
Bcl10 is involved in t(1;14)(p22;q32) of MALT B cell lymphoma and mutated in multiple tumor types. 57 6
9989495 1999
8
Somatic mutations in LKB1 are rare in sporadic colorectal and testicular tumors. 57 6
9605748 1998
9
Rare de novo germline copy-number variation in testicular cancer. 57 61
22863192 2012
10
Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer. 57 61
20543847 2010
11
Familial testicular germ cell tumors in adults: 2010 summary of genetic risk factors and clinical phenotype. 61 57
20228134 2010
12
A genome-wide association study of testicular germ cell tumor. 61 57
19483681 2009
13
Deletion of eIF2beta suppresses testicular cancer incidence and causes recessive lethality in agouti-yellow mice. 61 57
19168544 2009
14
Association of BCL10 germ line polymorphisms on chromosome 1p with advanced stage testicular germ cell tumor patients. 61 57
16229939 2006
15
The Y deletion gr/gr and susceptibility to testicular germ cell tumor. 57 61
16380914 2005
16
A male germ cell tumor-susceptibility-determining locus, pgct1, identified on murine chromosome 13. 61 57
10890890 2000
17
Codon-specific translation reprogramming promotes resistance to targeted therapy. 6
29925953 2018
18
A somatic mutation in erythro-myeloid progenitors causes neurodegenerative disease. 6
28854169 2017
19
eIF4F is a nexus of resistance to anti-BRAF and anti-MEK cancer therapies. 6
25079330 2014
20
Copper is required for oncogenic BRAF signalling and tumorigenesis. 6
24717435 2014
21
Reversible and adaptive resistance to BRAF(V600E) inhibition in melanoma. 6
24670642 2014
22
Germline mutations in oncogene-induced senescence pathways are associated with multiple sessile serrated adenomas. 6
24512911 2014
23
A key role for mitochondrial gatekeeper pyruvate dehydrogenase in oncogene-induced senescence. 6
23685455 2013
24
Modelling vemurafenib resistance in melanoma reveals a strategy to forestall drug resistance. 6
23302800 2013
25
Unresponsiveness of colon cancer to BRAF(V600E) inhibition through feedback activation of EGFR. 6
22281684 2012
26
RAF inhibitor resistance is mediated by dimerization of aberrantly spliced BRAF(V600E). 6
22113612 2011
27
Variants in or near KITLG, BAK1, DMRT1, and TERT-CLPTM1L predispose to familial testicular germ cell tumour. 57
21617256 2011
28
COT drives resistance to RAF inhibition through MAP kinase pathway reactivation. 6
21107320 2010
29
Melanomas acquire resistance to B-RAF(V600E) inhibition by RTK or N-RAS upregulation. 6
21107323 2010
30
Clinical efficacy of a RAF inhibitor needs broad target blockade in BRAF-mutant melanoma. 6
20823850 2010
31
Inhibition of mutated, activated BRAF in metastatic melanoma. 6
20818844 2010
32
LINE-1 methylation is inherited in familial testicular cancer kindreds. 57
20478068 2010
33
Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancer. 57
19483682 2009
34
Increased prevalence of testicular microlithiasis in men with familial testicular cancer and their relatives. 57
18841155 2008
35
BRAF gene duplication constitutes a mechanism of MAPK pathway activation in low-grade astrocytomas. 6
18398503 2008
36
Testicular microlithiasis as a familial risk factor for testicular germ cell tumour. 57
17971766 2007
37
Association of BRAF V600E mutation with poor clinicopathological outcomes in 500 consecutive cases of papillary thyroid carcinoma. 6
17785355 2007
38
BRAF mutations in papillary thyroid carcinomas inhibit genes involved in iodine metabolism. 6
17488796 2007
39
BRAF V600E maintains proliferation, transformation, and tumorigenicity of BRAF-mutant papillary thyroid cancer cells. 6
17374713 2007
40
Influence of the BRAF V600E mutation on expression of vascular endothelial growth factor in papillary thyroid cancer. 6
16772349 2006
41
Thanatophoric dysplasia type 2 with encephalocele during the second trimester. 6
16752380 2006
42
BRAF mutation predicts a poorer clinical prognosis for papillary thyroid cancer. 6
16174717 2005
43
BRAF mutations in colorectal carcinoma suggest two entities of microsatellite-unstable tumors. 6
16015629 2005
44
High prevalence and possible de novo formation of BRAF mutation in metastasized papillary thyroid cancer in lymph nodes. 6
15998781 2005
45
High incidence of thyroid cancer in long-standing goiters with thyroglobulin mutations. 6
16187918 2005
46
The Ter mutation in the dead end gene causes germ cell loss and testicular germ cell tumours. 57
15902260 2005
47
Silencing of the tumor suppressor gene SLC5A8 is associated with BRAF mutations in classical papillary thyroid carcinomas. 6
15687339 2005
48
Low frequency of BRAFT1796A mutations in childhood thyroid carcinomas. 6
15356022 2004
49
BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing. 6
15342696 2004
50
Detection of BRAF mutation on fine needle aspiration biopsy specimens: a new diagnostic tool for papillary thyroid cancer. 6
15181070 2004

Variations for Testicular Germ Cell Tumor

ClinVar genetic disease variations for Testicular Germ Cell Tumor:

6 (show all 37)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BCL10 NM_003921.5(BCL10):c.172C>G (p.Arg58Gly) SNV Pathogenic 6265 rs121918314 GRCh37: 1:85736475-85736475
GRCh38: 1:85270792-85270792
2 BCL10 NM_003921.5(BCL10):c.172C>T (p.Arg58Ter) SNV Pathogenic 6266 rs121918314 GRCh37: 1:85736475-85736475
GRCh38: 1:85270792-85270792
3 STK11 NM_000455.4(STK11):c.488G>A (p.Gly163Asp) SNV Pathogenic 7448 rs137853078 GRCh37: 19:1220395-1220395
GRCh38: 19:1220396-1220396
4 KIT NM_000222.3(KIT):c.2446G>C SNV Pathogenic 13863 rs121913506 GRCh37: 4:55599320-55599320
GRCh38: 4:54733154-54733154
5 FGFR3 NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu) SNV Pathogenic 16331 rs78311289 GRCh37: 4:1807889-1807889
GRCh38: 4:1806162-1806162
6 HRAS , LRRC56 NM_005343.4(HRAS):c.181C>A (p.Gln61Lys) SNV Pathogenic 12601 rs28933406 GRCh37: 11:533875-533875
GRCh38: 11:533875-533875
7 BCL10 NM_003921.5(BCL10):c.499dup (p.Ser167fs) Duplication Pathogenic 6250 rs387906350 GRCh37: 1:85733512-85733513
GRCh38: 1:85267829-85267830
8 FGFR3 NM_001163213.1(FGFR3):c.746C>G (p.Ser249Cys) SNV Pathogenic 16339 rs121913483 GRCh37: 4:1803568-1803568
GRCh38: 4:1801841-1801841
9 FGFR3 NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr) SNV Pathogenic 65855 rs121913105 GRCh37: 4:1807890-1807890
GRCh38: 4:1806163-1806163
10 BRAF NM_001374258.1(BRAF):c.1919T>A (p.Val640Glu) SNV Pathogenic 13961 rs113488022 GRCh37: 7:140453136-140453136
GRCh38: 7:140753336-140753336
11 BCL10 NM_003921.5(BCL10):c.488C>T (p.Thr163Met) SNV Pathogenic 30361 rs370432633 GRCh37: 1:85733524-85733524
GRCh38: 1:85267841-85267841
12 FGFR3 NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) SNV Pathogenic 16332 rs121913482 GRCh37: 4:1803564-1803564
GRCh38: 4:1801837-1801837
13 FGFR3 NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) SNV Pathogenic 16340 rs4647924 GRCh37: 4:1803571-1803571
GRCh38: 4:1801844-1801844
14 FGFR3 NM_000142.5(FGFR3):c.1138G>A SNV Pathogenic 16327 rs28931614 GRCh37: 4:1806119-1806119
GRCh38: 4:1804392-1804392
15 FGFR3 NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) SNV Pathogenic 16338 rs28933068 GRCh37: 4:1807371-1807371
GRCh38: 4:1805644-1805644
16 STK11 NM_000455.4(STK11):c.719C>G (p.Ser240Trp) SNV Likely pathogenic 182902 rs730881976 GRCh37: 19:1220701-1220701
GRCh38: 19:1220702-1220702
17 STK11 NM_000455.4(STK11):c.464+5G>A SNV Uncertain significance 141354 rs587781681 GRCh37: 19:1219417-1219417
GRCh38: 19:1219418-1219418
18 STK11 NM_000455.4(STK11):c.632G>A (p.Arg211Gln) SNV Uncertain significance 182910 rs730881982 GRCh37: 19:1220614-1220614
GRCh38: 19:1220615-1220615
19 STK11 NM_000455.4(STK11):c.1012G>A (p.Val338Met) SNV Uncertain significance 142198 rs587782302 GRCh37: 19:1223075-1223075
GRCh38: 19:1223076-1223076
20 STK11 NM_000455.4(STK11):c.1195C>A (p.Gln399Lys) SNV Uncertain significance 403791 rs1060499968 GRCh37: 19:1226539-1226539
GRCh38: 19:1226540-1226540
21 STK11 NM_000455.4(STK11):c.1243C>G (p.Arg415Gly) SNV Uncertain significance 220264 rs864622448 GRCh37: 19:1226587-1226587
GRCh38: 19:1226588-1226588
22 FGFR3 NM_000142.5(FGFR3):c.200G>A (p.Gly67Asp) SNV Uncertain significance 546226 rs369232922 GRCh37: 4:1801071-1801071
GRCh38: 4:1799344-1799344
23 FGFR3 NM_000142.5(FGFR3):c.1993G>T (p.Ala665Ser) SNV Uncertain significance 465350 rs764892330 GRCh37: 4:1808017-1808017
GRCh38: 4:1806290-1806290
24 FGFR3 NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser) SNV Uncertain significance 521225 rs139773438 GRCh37: 4:1808395-1808395
GRCh38: 4:1806668-1806668
25 KIT NM_000222.2(KIT):c.101C>T (p.Pro34Leu) SNV Uncertain significance 409788 rs55755457 GRCh37: 4:55561711-55561711
GRCh38: 4:54695545-54695545
26 KIT NM_000222.2(KIT):c.200C>G (p.Thr67Ser) SNV Uncertain significance 237252 rs144933028 GRCh37: 4:55561810-55561810
GRCh38: 4:54695644-54695644
27 KIT NM_000222.2(KIT):c.302A>G (p.His101Arg) SNV Uncertain significance 458940 rs1274601103 GRCh37: 4:55561912-55561912
GRCh38: 4:54695746-54695746
28 KIT NM_000222.2(KIT):c.1553C>T (p.Pro518Leu) SNV Uncertain significance 237245 rs569408054 GRCh37: 4:55593396-55593396
GRCh38: 4:54727230-54727230
29 KIT NM_000222.2(KIT):c.2057G>A (p.Arg686His) SNV Uncertain significance 458902 rs143772138 GRCh37: 4:55595567-55595567
GRCh38: 4:54729401-54729401
30 KIT NM_000222.2(KIT):c.2104C>G (p.Leu702Val) SNV Uncertain significance 409779 rs768847037 GRCh37: 4:55595614-55595614
GRCh38: 4:54729448-54729448
31 KIT NM_000222.2(KIT):c.2294A>G (p.Asp765Gly) SNV Uncertain significance 409730 rs1060502545 GRCh37: 4:55598097-55598097
GRCh38: 4:54731931-54731931
32 KIT NM_000222.2(KIT):c.2836C>T (p.Arg946Ter) SNV Uncertain significance 576610 rs139000082 GRCh37: 4:55604628-55604628
GRCh38: 4:54738462-54738462
33 KIT NM_000222.2(KIT):c.2863G>T (p.Val955Leu) SNV Uncertain significance 409783 rs1060502568 GRCh37: 4:55604655-55604655
GRCh38: 4:54738489-54738489
34 KIT NM_000222.2(KIT):c.2881G>A (p.Gly961Ser) SNV Uncertain significance 237271 rs773828910 GRCh37: 4:55604673-55604673
GRCh38: 4:54738507-54738507
35 KIT NM_000222.2(KIT):c.2887A>G (p.Thr963Ala) SNV Uncertain significance 409774 rs773709702 GRCh37: 4:55604679-55604679
GRCh38: 4:54738513-54738513
36 KIT NM_000222.2(KIT):c.2900C>G (p.Ser967Cys) SNV Uncertain significance 458936 rs1232060384 GRCh37: 4:55604692-55604692
GRCh38: 4:54738526-54738526
37 STK11 NM_000455.4(STK11):c.566C>T (p.Thr189Ile) SNV Uncertain significance 141128 rs587781515 GRCh37: 19:1220473-1220473
GRCh38: 19:1220474-1220474

UniProtKB/Swiss-Prot genetic disease variations for Testicular Germ Cell Tumor:

72
# Symbol AA change Variation ID SNP ID
1 FGFR3 p.Lys650Glu VAR_004160 rs78311289
2 STK10 p.Lys277Glu VAR_023827 rs757545210
3 STK11 p.Gly163Asp VAR_033140 rs137853078

Copy number variations for Testicular Germ Cell Tumor from CNVD:

7 (show all 12)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 19332 1 149600000 247249719 Gain Testicular germ cell tumor
2 42821 10 40300000 82000000 Loss Testicular germ cell tumor
3 61421 12 1 132349534 Gain Testicular germ cell tumor
4 89303 15 17000000 76100000 Loss Testicular germ cell tumor
5 121721 18 46400000 76117153 Loss Testicular germ cell tumor
6 146937 2 56300000 230700000 Loss Testicular germ cell tumor
7 180589 4 107900000 191273063 Loss Testicular germ cell tumor
8 206877 6 149100000 170899992 Loss Testicular germ cell tumor
9 226157 7 55086724 55275030 Amplification EGFR Testicular germ cell tumor
10 245111 9 101600000 129300000 Loss Testicular germ cell tumor
11 261703 X 24900000 29400000 Gain Testicular germ cell tumor
12 262543 X 37500000 146900000 Gain Testicular germ cell tumor

Expression for Testicular Germ Cell Tumor

Search GEO for disease gene expression data for Testicular Germ Cell Tumor.

Pathways for Testicular Germ Cell Tumor

GO Terms for Testicular Germ Cell Tumor

Biological processes related to Testicular Germ Cell Tumor according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 protein phosphorylation GO:0006468 9.93 STK11 STK10 KIT FGFR3 BRAF
2 positive regulation of cell proliferation GO:0008284 9.91 MIR372 KITLG KIT HRAS FGFR3
3 miRNA mediated inhibition of translation GO:0035278 9.7 MIR200C MIR145 MIR133B
4 negative regulation of ERK1 and ERK2 cascade GO:0070373 9.65 SPRY4 MIR200C MIR133B
5 positive regulation of kinase activity GO:0033674 9.63 KIT FGFR3 BCL10
6 T cell receptor signaling pathway GO:0050852 9.62 STK11 HRAS BRAF BCL10
7 positive regulation of MAP kinase activity GO:0043406 9.61 KITLG KIT HRAS
8 protein autophosphorylation GO:0046777 9.56 STK11 STK10 KIT FGFR3
9 embryonic hemopoiesis GO:0035162 9.55 KITLG KIT
10 MAPK cascade GO:0000165 9.55 KITLG KIT HRAS FGFR3 BRAF
11 positive regulation of phospholipase C activity GO:0010863 9.49 KIT HRAS
12 ectopic germ cell programmed cell death GO:0035234 9.4 KITLG KIT
13 myeloid progenitor cell differentiation GO:0002318 9.37 KIT BRAF
14 gene silencing by miRNA GO:0035195 9.28 MIR373 MIR372 MIR371A MIR367 MIR302D MIR200C
15 negative regulation of vascular endothelial growth factor production GO:1904046 9.26 MIR373 MIR372 MIR302D MIR140

Molecular functions related to Testicular Germ Cell Tumor according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein kinase activity GO:0004672 9.55 STK11 STK10 KIT FGFR3 BRAF
2 mRNA 3'-UTR binding GO:0003730 9.26 MIR200C MIR145 MIR140 MIR133B
3 mRNA binding involved in posttranscriptional gene silencing GO:1903231 9.23 MIR373 MIR372 MIR371A MIR302D MIR200C MIR145

Sources for Testicular Germ Cell Tumor

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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