MCID: HPT022
MIFTS: 54

Hepatoblastoma

Categories: Cancer diseases, Gastrointestinal diseases, Liver diseases, Rare diseases

Aliases & Classifications for Hepatoblastoma

MalaCards integrated aliases for Hepatoblastoma:

Name: Hepatoblastoma 12 73 20 36 29 54 6 44 15 17 70

Classifications:



External Ids:

Disease Ontology 12 DOID:687
KEGG 36 H02302
MeSH 44 D018197
NCIt 50 C3728
SNOMED-CT 67 109843000
ICD10 32 C22.2
UMLS 70 C0206624

Summaries for Hepatoblastoma

GARD : 20 Hepatoblastoma is a rare malignant (cancerous) tumor of the liver that usually occurs in the first 3 years of life. In early stages of the condition, there may be no concerning signs or symptoms. As the tumor gets larger, affected children may experience a painful, abdominal lump; swelling of the abdomen; unexplained weight loss; loss of appetite; and/or nausea and vomiting. The exact underlying cause of hepatoblastoma is poorly understood. Risk factors for the tumor include prematurity with a very low birth weight, early exposure to hepatitis B infection, biliary atresia, and several different genetic conditions (i.e. Beckwith-Wiedemann syndrome, familial adenomatous polyposis, Aicardi syndrome, Glycogen storage disease, and Simpson-Golabi-Behmel syndrome ). Treatment varies based on the severity of the condition but may include a combination of surgery, watchful waiting, chemotherapy, and/or radiation therapy.

MalaCards based summary : Hepatoblastoma is related to beckwith-wiedemann syndrome and hepatocellular carcinoma, and has symptoms including icterus An important gene associated with Hepatoblastoma is CTNNB1 (Catenin Beta 1), and among its related pathways/superpathways are Wnt signaling pathway and PI3K-Akt signaling pathway. The drugs Nicotine and Sevoflurane have been mentioned in the context of this disorder. Affiliated tissues include liver, fetal liver and lung, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

KEGG : 36 Although malignant tumors of the liver are rare during childhood, hepatoblastoma is the most common liver cancer in children, usually diagnosed during the first 3 years of life. These tumors are thought to arise from hepatic progenitors or hepatoblasts. The most frequent genetic aberrations (70-90%) in hepatoblastoma occur in genes involved in the Wnt signaling pathway. The Wnt signaling pathway is activated often by acquired activating mutations of the beta-catenin (CTNNB1) gene, and less commonly through constitutional mutations of the APC gene or somatic mutations of other genes in the pathway.

Wikipedia : 73 Hepatoblastoma is a malignant liver cancer occurring in infants and children and composed of tissue... more...

Related Diseases for Hepatoblastoma

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

(show top 50) (show all 464)
# Related Disease Score Top Affiliating Genes
1 beckwith-wiedemann syndrome 32.5 TP53 SLC22A18 IGF2 H19 GPC3 CTNNB1
2 hepatocellular carcinoma 32.1 TUG1 TP53 KRT7 IGF2 HNF1A HGF
3 hemihyperplasia, isolated 31.1 IGF2 H19
4 teratoma 30.9 TP53 KRT7 GPC3 CTNNB1 AFP
5 hemangioma 30.8 TP53 KRT7 IGF2 CTNNB1
6 adenoma 30.7 TP53 PLAG1 KRT7 CTNNB1 APC
7 osteogenic sarcoma 30.7 TUG1 TP53 IGF2 H19 CASP3
8 rhabdomyosarcoma 30.7 TP53 SLC22A18 KRT7 IGF2 H19 GPC3
9 simpson-golabi-behmel syndrome 30.7 GPC3 CTNNB1
10 biliary atresia 30.7 SLC10A1 KRT7 HGF
11 pediatric hepatocellular carcinoma 30.7 SLC22A18 HGF
12 embryonal sarcoma 30.6 TP53 GPC3 CTNNB1
13 endodermal sinus tumor 30.6 KRT7 GPC3 AFP
14 liver cirrhosis 30.6 TP53 HGF GPC3 CTNNB1 APC AFP
15 wilms tumor 1 30.6 TP53 SLC22A18 KRT7 IGF2 H19 GPC3
16 hepatocellular adenoma 30.6 HNF1A GPC3 CTNNB1 AFP
17 adrenal cortical carcinoma 30.6 TP53 IGF2 H19 CTNNB1
18 glycogen storage disease 30.6 IGF2 HNF1A HGF AFP
19 liver disease 30.5 SLC10A1 PPARA HGF CASP3 AFP
20 colorectal adenoma 30.5 TP53 CTNNB1 APC
21 fibrolamellar carcinoma 30.5 KRT7 GPC3 CTNNB1 AFP
22 pleomorphic adenoma 30.5 TP53 PLAG1 KRT7 CTNNB1
23 intrahepatic cholangiocarcinoma 30.4 TUG1 TP53 KRT7 GPC3 CTNNB1 APC
24 gastrointestinal stromal tumor 30.4 TP53 IGF2 CASP3 APC
25 adenocarcinoma 30.4 TP53 KRT7 HGF H19 CTNNB1 APC
26 cholangiocarcinoma 30.3 TUG1 TP53 KRT7 HGF H19 GPC3
27 mature teratoma 30.2 TP53 KRT7 AFP
28 neural tube defects 30.2 TP53 IGF2 HGF H19 CTNNB1 CASP3
29 lung cancer susceptibility 3 30.0 TUG1 TP53 PLAG1 KRT7 HGF H19
30 non-alcoholic steatohepatitis 29.8 TP53 PPARA HGF
31 mixed hepatoblastoma 11.2
32 macrotrabecular hepatoblastoma 11.1
33 silver-russell syndrome due to 11p15 microduplication 10.6 IGF2 H19
34 silver-russell syndrome due to an imprinting defect of 11p15 10.6 IGF2 H19
35 beckwith-wiedemann syndrome due to imprinting defect of 11p15 10.6 IGF2 H19
36 silver-russell syndrome due to a point mutation 10.6 PLAG1 IGF2
37 pax6-related aniridia 10.6 IGF2 H19 GPC3
38 vulvar intraepithelial neoplasia 10.6 TP53 CTNNB1
39 adult teratoma 10.6 TP53 AFP
40 adrenal cortex disease 10.6 TP53 IGF2 CTNNB1
41 cardiovascular organ benign neoplasm 10.6 TP53 CTNNB1 APC AFP
42 non-gestational ovarian choriocarcinoma 10.6 TP53 AFP
43 wilms tumor predisposition 10.6 TP53 IGF2 H19 GPC3
44 ovarian embryonal carcinoma 10.6 GPC3 AFP
45 colonic benign neoplasm 10.6 TP53 CTNNB1 APC
46 retinal cancer 10.6 TP53 CTNNB1 CASP3 APC
47 gestational trophoblastic neoplasm 10.6 IGF2 H19 AFP
48 keratoacanthoma 10.6 TP53 CTNNB1 CASP3
49 childhood medulloblastoma 10.5 TP53 CTNNB1 CRNDE
50 gastric adenocarcinoma 10.5 TP53 H19 CTNNB1 APC AFP

Graphical network of the top 20 diseases related to Hepatoblastoma:



Diseases related to Hepatoblastoma

Symptoms & Phenotypes for Hepatoblastoma

UMLS symptoms related to Hepatoblastoma:


icterus

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

26 (show all 28)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-114 9.73 AFP
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-120 9.73 AFP
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-177 9.73 APC
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-29 9.73 AFP APC
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-49 9.73 APC
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-63 9.73 AFP
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 9.73 AFP
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 9.73 KRT7
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.73 APC
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-74 9.73 APC
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 9.73 AFP
12 Increased shRNA abundance (Z-score > 2) GR00366-A-109 9.58 IGF2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.58 IGF2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.58 APC
15 Increased shRNA abundance (Z-score > 2) GR00366-A-134 9.58 IGF2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.58 KRT7
17 Increased shRNA abundance (Z-score > 2) GR00366-A-148 9.58 IGF2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.58 IGF2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-192 9.58 APC KRT7
20 Increased shRNA abundance (Z-score > 2) GR00366-A-195 9.58 IGF2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.58 APC
22 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.58 CTNNB1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.58 IGF2
24 Increased shRNA abundance (Z-score > 2) GR00366-A-68 9.58 KRT7
25 Increased shRNA abundance (Z-score > 2) GR00366-A-72 9.58 KRT7
26 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.58 KRT7
27 Increased shRNA abundance (Z-score > 2) GR00366-A-87 9.58 IGF2
28 Increased shRNA abundance (Z-score > 2) GR00366-A-91 9.58 KRT7

MGI Mouse Phenotypes related to Hepatoblastoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.22 APC APOA1 CASP3 CTNNB1 GPC3 HGF
2 endocrine/exocrine gland MP:0005379 10.13 AFP APC APOA1 CASP3 CDO1 CTNNB1
3 craniofacial MP:0005382 10.06 APC CASP3 CDO1 CTNNB1 GPC3 IGF2
4 integument MP:0010771 10.06 APC APOA1 CASP3 CTNNB1 GPC3 HNF1A
5 liver/biliary system MP:0005370 9.97 AFP APC APOA1 CTNNB1 HGF HNF1A
6 limbs/digits/tail MP:0005371 9.91 APC CDO1 CTNNB1 GPC3 IGF2 PLAG1
7 renal/urinary system MP:0005367 9.81 APC CASP3 CTNNB1 GPC3 HNF1A IGF2
8 pigmentation MP:0001186 9.73 APC CASP3 CTNNB1 GPC3 HGF TP53
9 reproductive system MP:0005389 9.65 AFP APC CASP3 CDO1 CTNNB1 GPC3
10 skeleton MP:0005390 9.32 APC CASP3 CDO1 CTNNB1 GPC3 HGF

Drugs & Therapeutics for Hepatoblastoma

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

(show top 50) (show all 98)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nicotine Approved Phase 4 54-11-5 942 89594
2
Sevoflurane Approved, Vet_approved Phase 2, Phase 3 28523-86-6 5206
3
Rocuronium Approved Phase 2, Phase 3 119302-91-9, 143558-00-3 441290
4
Propofol Approved, Investigational, Vet_approved Phase 2, Phase 3 2078-54-8 4943
5
Amifostine Approved, Investigational Phase 3 20537-88-6 2141
6
Cisplatin Approved Phase 3 15663-27-1 84093 441203 2767
7
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
8
Oxaliplatin Approved, Investigational Phase 3 61825-94-3 5310940 9887054 6857599 43805
9
Sorafenib Approved, Investigational Phase 3 284461-73-0 216239 406563
10
Etoposide Approved Phase 3 33419-42-0 36462
11
Gemcitabine Approved Phase 3 95058-81-4 60750
12
Daunorubicin Approved Phase 2, Phase 3 20830-81-3 30323
13
Irinotecan Approved, Investigational Phase 3 97682-44-5, 100286-90-6 60838
14
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
15
Dexrazoxane Approved, Withdrawn Phase 3 24584-09-6 71384
16
Fluorouracil Approved Phase 3 51-21-8 3385
17
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
18
Clotrimazole Approved, Vet_approved Phase 3 23593-75-1 2812
19
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
20
Sirolimus Approved, Investigational Phase 3 53123-88-9 5284616 6436030
21
Camptothecin Experimental Phase 3 7689-03-4
22 Anesthetics Phase 2, Phase 3
23 Bromides Phase 2, Phase 3
24 Radiation-Protective Agents Phase 3
25 Protective Agents Phase 3
26 Anti-Infective Agents Phase 3
27 Antidotes Phase 3
28 Chelating Agents Phase 3
29 Antioxidants Phase 3
30 sodium thiosulfate Phase 3
31 Anti-Bacterial Agents Phase 3
32 Antitubercular Agents Phase 3
33 Protein Kinase Inhibitors Phase 3
34 Etoposide phosphate Phase 3
35 Antiviral Agents Phase 3
36 Dermatologic Agents Phase 2, Phase 3
37 Keratolytic Agents Phase 2, Phase 3
38 Podophyllotoxin Phase 2, Phase 3 518-28-5
39 topoisomerase I inhibitors Phase 3
40 Tubulin Modulators Phase 3
41
Liposomal doxorubicin Phase 3 31703
42 razoxane Phase 3
43 3,6-bis(5-chloro-2-piperidyl)-2,5-piperazinedione Phase 3
44 Cardiotonic Agents Phase 3
45 Antimitotic Agents Phase 3
46 Antibiotics, Antitubercular Phase 3
47 Antifungal Agents Phase 3
48 Hematinics Phase 3
49 Antimetabolites Phase 3
50
Ivosidenib Approved, Investigational Phase 2 1448347-49-6 71657455

Interventional clinical trials:

(show all 50)
# Name Status NCT ID Phase Drugs
1 G-CSF Alone or Combination With GM-CSF on Prevention and Treatment of Infection in Children With Malignant Tumor: a Prospective, Multicentre, Randomised Controlled Trial Unknown status NCT02933333 Phase 4
2 Efficacy and Safety Study of Sugammadex in Children 0-2 Years Old Unknown status NCT03728543 Phase 2, Phase 3 Sugammadex
3 A Multi-centre Open-label Randomised Phase III Trial of the Efficacy of Sodium Thiosulphate in Reducing Ototoxicity in Patients Receiving Cisplatin Chemotherapy for Standard Risk Hepatoblastoma Completed NCT00652132 Phase 3 cisplatin;sodium thiosulfate
4 Intergroup Protocol for Treatment of Children With Hepatoblastoma Completed NCT00003994 Phase 3 cisplatin;vincristine sulfate;fluorouracil;amifostine trihydrate;carboplatin
5 Liver Tumour Studies - Hepatoblastoma and Hepatocellular Carcinoma Completed NCT00003912 Phase 3 carboplatin;cisplatin;doxorubicin hydrochloride
6 A Randomized Phase III Study of Sodium Thiosulfate for the Prevention of Cisplatin-Induced Ototoxicity in Children Completed NCT00716976 Phase 3 sodium thiosulfate
7 A Phase 3 Multi-institutional Study for Treatment of Children With Newly Diagnosed Hepatoblastoma Using a Modified PHITT Strategy Incorporating a Randomized Assessment of Sodium Thiosulfate as Otoprotection for Children With Localized Disease, and Response Adapted Therapy for Patients With Metastatic Disease Recruiting NCT04478292 Phase 3 Sodium Thiosulfate Injection;mono CDDP-Group A2;Cisplatin, 5-Fluorouracil, Vincristine, Doxorubicin-Group C;mono CDDP- Group B;Block 1 to 3 (Cisplatin, Doxorubicin) Group D;Consolidation (Carboplatin, Doxorubicin) -Group D1;Consolidation (Carboplatin +Doxorubicin/Vincristine + Irinotecan)-Group D2
8 Paediatric Hepatic International Tumour Trial Recruiting NCT03017326 Phase 3 Cisplatin;Doxorubicin;Carboplatin;5Fluorouracil;Vincristine;Etoposide;Irinotecan;Gemcitabine;Oxaliplatin;Sorafenib
9 Pediatric Hepatic Malignancy International Therapeutic Trial (PHITT) Recruiting NCT03533582 Phase 2, Phase 3 Carboplatin;Cisplatin;Doxorubicin;Etoposide;Fluorouracil;Gemcitabine;Irinotecan;Oxaliplatin;Sorafenib;Vincristine Sulfate
10 Treatment of Children With All Stages of Hepatoblastoma With Temsirolimus (NSC#683864) Added to High Risk Stratum Treatment Active, not recruiting NCT00980460 Phase 3 Cisplatin;Dexrazoxane;Doxorubicin Hydrochloride;Fluorouracil;Irinotecan Hydrochloride;Temsirolimus;Vincristine Sulfate
11 A Randomized, Open-Label, Multicenter, Controlled Study to Assess Safety and Efficacy of ELAD® in Subjects With Severe Acute Alcoholic Hepatitis (sAAH) and Lille Score Failure Terminated NCT01829347 Phase 3
12 Irinotecan Single-Drug Treatment For Children With Refractory or Recurrent Hepatoblastoma Unknown status NCT00287976 Phase 2 irinotecan hydrochloride
13 Intensified Pre-Operative Chemotherapy And Radical Surgery For High Risk Hepatoblastoma Unknown status NCT00077389 Phase 2 carboplatin;cisplatin;doxorubicin hydrochloride
14 High-Dose Chemotherapy With Tandem Peripheral Blood Stem Cell (PBSC) Rescue for the Treatment of High-Risk Pediatric Solid Tumors. Unknown status NCT00179816 Phase 1, Phase 2 High-Dose Chemotherapy with Tandem PBSC Rescue.
15 A Phase II Study of MLN8237, a Selective Aurora A Kinase Inhibitor in Children With Recurrent/Refractory Solid Tumors and Leukemias Completed NCT01154816 Phase 2 Alisertib
16 A Phase II Study of IMC-A12 (Anti-IGF-I Receptor Monoclonal Antibody, NSC #742460) in Children With Relapsed/Refractory Solid Tumors Completed NCT00831844 Phase 2
17 A Phase I/II Study of LDE225 in Pediatric Patients With Recurrent or Refractory Medulloblastoma or Other Tumors Potentially Dependent on the Hedgehog-signaling Pathway and Adult Patients With Recurrent or Refractory Medulloblastoma Completed NCT01125800 Phase 1, Phase 2 LDE225
18 A Phase II Study of Oxaliplatin in Children With Recurrent Solid Tumors Completed NCT00091182 Phase 2 oxaliplatin
19 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice) - Phase 2 Subprotocol of BVD-523FB (Ulixertinib) in Patients With Tumors Harboring Activating MAPK Pathway Mutations Recruiting NCT03698994 Phase 2 Ulixertinib
20 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice)- Phase 2 Subprotocol of Tipifarnib in Patients With Tumors Harboring HRAS Genomic Alterations Recruiting NCT04284774 Phase 2 Tipifarnib
21 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice) - Phase 2 Subprotocol of LOXO-292 in Patients With Tumors Harboring RET Gene Alterations Recruiting NCT04320888 Phase 2 Selpercatinib
22 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice) - Phase 2 Subprotocol of AG-120 (Ivosidenib) in Patients With Tumors Harboring IDH1 Mutations Recruiting NCT04195555 Phase 2 Ivosidenib
23 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice) - Phase 2 Subprotocol of Palbociclib in Patients With Tumors Harboring Activating Alterations in Cell Cycle Genes Recruiting NCT03526250 Phase 2 Palbociclib
24 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice)- Phase 2 Subprotocol of Olaparib in Patients With Tumors Harboring Defects in DNA Damage Repair Genes Recruiting NCT03233204 Phase 2 Olaparib
25 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice)- Phase 2 Subprotocol of Vemurafenib in Patients With Tumors Harboring BRAF V600 Mutations Recruiting NCT03220035 Phase 2 Vemurafenib
26 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice) - Phase 2 Subprotocol of LOXO-101 (Larotrectinib) in Patients With Tumors Harboring Actionable NTRK Fusions Recruiting NCT03213704 Phase 2 Larotrectinib;Larotrectinib Sulfate
27 NCI-COG Pediatric MATCH (Molecular Analysis For Therapy Choice)- Phase 2 Subprotocol of LY3023414 in Patients With Solid Tumors Recruiting NCT03213678 Phase 2 Samotolisib
28 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice)- Phase 2 Subprotocol of Ensartinib in Patients With Tumors Harboring ALK or ROS1 Genomic Alterations Recruiting NCT03213652 Phase 2 Ensartinib
29 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice) - Phase 2 Subprotocol of JNJ-42756493 (Erdafitinib) in Patients With Tumors Harboring FGFR1/2/3/4 Alterations Recruiting NCT03210714 Phase 2 Erdafitinib
30 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice) Screening Protocol Recruiting NCT03155620 Phase 2 Ensartinib;Erdafitinib;Larotrectinib;Olaparib;Palbociclib;Samotolisib;Selpercatinib;Selumetinib Sulfate;Tazemetostat;Tipifarnib;Ulixertinib;Vemurafenib
31 Phase 2 Trial of XL184 (Cabozantinib) an Oral Small-Molecule Inhibitor of Multiple Kinases, in Children and Young Adults With Refractory Sarcomas, Wilms Tumor, and Other Rare Tumors Active, not recruiting NCT02867592 Phase 2 Cabozantinib;Cabozantinib S-malate
32 An Open-Label, Dose Escalation, Phase I/II Clinical Trial of ET140203 T Cells in Pediatric Subjects With Relapsed/Refractory Hepatoblastoma (HB), Hepatocellular Neoplasm-Not Otherwise Specified (HCN-NOS), or Hepatocellular Carcinoma (HCC) Not yet recruiting NCT04634357 Phase 1, Phase 2 ET140203 T Cells
33 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice) - Phase 2 Subprotocol of Tazemetostat in Patients With Tumors Harboring Alterations in EZH2 or Members of the SWI/SNF Complex Suspended NCT03213665 Phase 2 Tazemetostat
34 A Phase II Study of Imetelstat (GRN163L, NSC# 754228) in Children With Relapsed or Refractory Solid Tumors Withdrawn NCT02011126 Phase 2 Imetelstat Sodium
35 Sirolimus in Combination With Metronomic Therapy in Children With Recurrent and Refractory Solid Tumors: A Phase I Study Completed NCT01331135 Phase 1 sirolimus
36 A Phase 1 Study Using Simvastatin in Combination With Topotecan and Cyclophosphamide in Relapsed and/or Refractory Pediatric Solid and CNS Tumors Completed NCT02390843 Phase 1 Simvastatin;Cyclophosphamide;Topotecan;Myeloid growth factor
37 A Phase I Study of Vorinostat in Combination With Vincristine, Irinotecan, and Temozolomide in Children, Adolescents, and Young Adults With Relapsed or Refractory Solid Tumors and CNS Malignancies Recruiting NCT04308330 Phase 1 Vorinostat
38 Phase I Study of EGFR806 CAR T Cell Immunotherapy for Recurrent/Refractory Solid Tumors in Children and Young Adults Recruiting NCT03618381 Phase 1
39 Phase I Study of B7H3 CAR T Cell Immunotherapy for Recurrent/Refractory Solid Tumors in Children and Young Adults Recruiting NCT04483778 Phase 1
40 Pilot Pharmacokinetic Study of VAL-413 in Patients With Recurrent Pediatric Solid Tumors Not yet recruiting NCT04337177 Phase 1 VAL-413;Temozolomide
41 A Phase I Study of the Chemoprotectant Amifostine With Autologous Stem Cell Transplantation for High Risk or Relapsed Pediatric Solid Tumors and Brain Tumors Terminated NCT00003926 Phase 1 amifostine trihydrate;busulfan;filgrastim;melphalan;thiotepa
42 T Cells co- Expressing a Second Generation Glypican 3-specific Chimeric Antigen Receptor With Cytokines Interleukin-21 and 15 as Immunotherapy for Patients With Liver Cancer Withdrawn NCT04093648 Phase 1 Cytoxan;Fludarabine
43 Genetics and Biology of Liver Tumorigenesis in Children Completed NCT01336881
44 PIVKA-II Combined With Alpha-Fetoprotein for Diagnostic and Prognostic Value of Hepatic Tumors in Infants: Protocol for a Multicenter, Observational Trialin Hepatic Tumor Recruiting NCT03645655
45 Combined Modality Therapy in Hepatoblastoma: South Egypt Cancer Institute Experience Recruiting NCT02557750
46 Clinical Outcomes and Quality of Life After Transarterial Radioembolization With Yttrium-90 (TARE-Y90) in Children, Adolescents, and Young Adults With Liver Tumors Recruiting NCT04315883
47 Genetic and Molecular Basis of Pediatric Liver Cancer Recruiting NCT03959800
48 Alkylator-Intense Conditioning Followed by Autologous Transplantation for Patients With High Risk or Relapsed Solid or CNS Tumors Recruiting NCT01505569 Ifosfamide;Etoposide;Mesna;Busulfan;Melphalan;Thiotepa;Carboplatin;Paclitaxel;Anti-seizure prophylaxis;Ursodiol
49 A Compassionate Use Program to Provide Access to Sodium Thiosulfate for the Protection From Cisplatin-Induced Hearing Loss in Children Who Had Standard-risk Hepatoblastoma Available NCT04132882 Sodium Thiosulfate (STS)
50 Hepatoblastoma Biology Study and Tissue Bank Withdrawn NCT00228683

Search NIH Clinical Center for Hepatoblastoma

Cochrane evidence based reviews: hepatoblastoma

Genetic Tests for Hepatoblastoma

Genetic tests related to Hepatoblastoma:

# Genetic test Affiliating Genes
1 Hepatoblastoma 29

Anatomical Context for Hepatoblastoma

MalaCards organs/tissues related to Hepatoblastoma:

40
Liver, Fetal Liver, Lung, Myeloid, Bone, Heart, Kidney

Publications for Hepatoblastoma

Articles related to Hepatoblastoma:

(show top 50) (show all 3452)
# Title Authors PMID Year
1
Beta-catenin accumulation and mutation of the CTNNB1 gene in hepatoblastoma. 54 6 61
10398436 1999
2
Somatic mutations of the APC gene in sporadic hepatoblastomas. 61 6
8764128 1996
3
A novel case of a sporadic desmoid tumour with mutation of the beta catenin gene. 6
10655994 1999
4
Beta-catenin mutations in hepatocellular carcinoma correlate with a low rate of loss of heterozygosity. 6
10435629 1999
5
A common human skin tumour is caused by activating mutations in beta-catenin. 6
10192393 1999
6
Childhood hepatoblastomas frequently carry a mutated degradation targeting box of the beta-catenin gene. 6
9927029 1999
7
Activation of the beta-catenin gene by interstitial deletions involving exon 3 in primary colorectal carcinomas without adenomatous polyposis coli mutations. 6
9500465 1998
8
Screening for TP53 mutations in osteosarcomas using constant denaturant gel electrophoresis (CDGE). 6
8401536 1993
9
Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma. 6
1565143 1992
10
Hepatocyte growth factor protects hepatoblastoma cells from chemotherapy-induced apoptosis by AKT activation. 54 61
20372801 2010
11
Involvement of mTOR and survivin inhibition in tamoxifen-induced apoptosis in human hepatoblastoma cell line HepG2. 54 61
19931998 2010
12
Predictive power of pretreatment prognostic factors in children with hepatoblastoma: a report from the Children's Oncology Group. 61 54
19588519 2009
13
Establishment and characterization of a cancer cell line derived from an aggressive childhood liver tumor. 54 61
19637320 2009
14
Regulation of the human SLC25A20 expression by peroxisome proliferator-activated receptor alpha in human hepatoblastoma cells. 54 61
19748481 2009
15
Could APC gene screening be useful in children with hepatoblastoma? Early onset of adenocarcinoma in a child with familial adenomatous polyposis and hepatoblastoma. 54 61
20210251 2009
16
Regulation of expression of apolipoprotein A-I by selenium status in human liver hepatoblastoma cells. 61 54
19294445 2009
17
Thyroid hormones act indirectly to increase sex hormone-binding globulin production by liver via hepatocyte nuclear factor-4alpha. 54 61
19336534 2009
18
Histologic subtypes of hepatoblastoma are characterized by differential canonical Wnt and Notch pathway activation in DLK+ precursors. 61 54
19200579 2009
19
Peroxisome-proliferator receptor gamma represses hepatic sex hormone-binding globulin expression. 61 54
19179433 2009
20
Knockdown of ATP8B1 expression leads to specific downregulation of the bile acid sensor FXR in HepG2 cells: effect of the FXR agonist GW4064. 61 54
19228886 2009
21
Effects of niacin and chromium on the expression of ATP-binding cassette transporter A1 and apolipoprotein A-1 genes in HepG2 cells. 61 54
18602814 2009
22
[Successful treatment of second hepatoblastoma relapse--case report]. 54 61
19780340 2009
23
Loss of imprinting of IGF2 correlates with hypermethylation of the H19 differentially methylated region in hepatoblastoma. 61 54
19034281 2008
24
Hepatic stem-like phenotype and interplay of Wnt/beta-catenin and Myc signaling in aggressive childhood liver cancer. 61 54
19061838 2008
25
Rosuvastatin selectively stimulates apolipoprotein A-I but not apolipoprotein A-II synthesis in Hep G2 cells. 54 61
18555840 2008
26
Diagnostic value of lectin reactive alpha-fetoprotein for neoinfantile hepatic tumors and malignant germ cell tumors: preliminary study. 54 61
18525461 2008
27
The expression of Bcl-XL, Bcl-XS and p27Kip1 in topotecan-induced apoptosis in hepatoblastoma HepG2 cell line. 54 61
18568767 2008
28
Mesenchymal hamartoma of the liver mimicking hepatoblastoma. 54 61
18525464 2008
29
Hepatoblastoma with a low serum alpha-fetoprotein level at diagnosis: the SIOPEL group experience. 61 54
18166449 2008
30
Variable antigen expression in hepatoblastomas. 54 61
18227729 2008
31
Expression of glypican 3 in hepatoblastoma: an immunohistochemical study of 65 cases. 54 61
17949790 2008
32
Combining intracellular and secreted bioluminescent reporter proteins for multicolor cell-based assays. 54 61
18264589 2008
33
Sporadic childhood hepatoblastomas show activation of beta-catenin, mismatch repair defects and p53 mutations. 61 54
17962810 2008
34
Monosaccharide-induced lipogenesis regulates the human hepatic sex hormone-binding globulin gene. 54 61
17992261 2007
35
Pioglitazone stimulates apolipoprotein A-I production without affecting HDL removal in HepG2 cells: involvement of PPAR-alpha. 61 54
17872455 2007
36
Erythropoietin receptor presence in hepatoblastoma: a possible link to increased incidence of hepatoblastoma in very low birthweight infants. 61 54
16937361 2007
37
Insulin-like growth factor (IGF)-II regulates CCAAT/enhancer binding protein alpha expression via phosphatidyl-inositol 3 kinase in human hepatoblastoma cell lines. 61 54
17372916 2007
38
Promoter hypermethylation of the RASSF1A gene predicts the poor outcome of patients with hepatoblastoma. 61 54
16937357 2007
39
[Application of the human hepatoblastoma cell lines inducibly expressing peroxisome proliferator-activated receptors (PPARs)]. 61 54
17666873 2007
40
A novel function of capsaicin-sensitive TRPV1 channels: involvement in cell migration. 61 54
17184838 2007
41
Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome. 54 61
17551924 2007
42
siRNA-mediated Bcl-2 and Bcl-xl gene silencing sensitizes human hepatoblastoma cells to chemotherapeutic drugs. 54 61
17439414 2007
43
Mesenchymal hamartoma of the liver associated with features of Beckwith-Wiedemann syndrome and high serum alpha-fetoprotein levels. 54 61
17535089 2007
44
PLAG1, the prototype of the PLAG gene family: versatility in tumour development (review). 61 54
17332914 2007
45
Ornithine transcarbamylase and arginase I deficiency are responsible for diminished urea cycle function in the human hepatoblastoma cell line HepG2. 61 54
17098461 2007
46
Should children at risk for familial adenomatous polyposis be screened for hepatoblastoma and children with apparently sporadic hepatoblastoma be screened for APC germline mutations? 61 54
16317745 2006
47
Signaling pathway of insulin-like growth factor-II as a target of molecular therapy for hepatoblastoma. 61 54
17072986 2006
48
Effective treatment of tumors with strong beta-catenin/T-cell factor activity by transcriptionally targeted oncolytic herpes simplex virus vector. 54 61
17047077 2006
49
Identification of human low-density lipoprotein receptor as a novel target gene regulated by liver X receptor alpha. 61 54
16920108 2006
50
The hook effect: a need for constant vigilance. 54 61
16824284 2006

Variations for Hepatoblastoma

ClinVar genetic disease variations for Hepatoblastoma:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ARID1A NM_006015.6(ARID1A):c.6259G>A (p.Gly2087Arg) SNV other 438750 rs1553153748 GRCh37: 1:27106648-27106648
GRCh38: 1:26780157-26780157
2 MN1 NM_002430.3(MN1):c.912_914GCA[5] (p.Gln309del) Microsatellite other 438776 rs747503495 GRCh37: 22:28195603-28195605
GRCh38: 22:27799615-27799617
3 CTNNB1 NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala) SNV Pathogenic, other 17580 rs121913412 GRCh37: 3:41266124-41266124
GRCh38: 3:41224633-41224633
4 CTNNB1 NM_001904.4(CTNNB1):c.84_95del (p.Gln28_Asp32delinsHis) Deletion other 438756 rs1553630102 GRCh37: 3:41266086-41266097
GRCh38: 3:41224595-41224606
5 CTNNB1 NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val) SNV Pathogenic 17582 rs28931589 GRCh37: 3:41266104-41266104
GRCh38: 3:41224613-41224613
6 CTNNB1 NM_001904.4(CTNNB1):c.94G>T (p.Asp32Tyr) SNV Pathogenic 17581 rs28931588 GRCh37: 3:41266097-41266097
GRCh38: 3:41224606-41224606
7 TP53 NM_000546.5(TP53):c.722C>T (p.Ser241Phe) SNV Pathogenic 12359 rs28934573 GRCh37: 17:7577559-7577559
GRCh38: 17:7674241-7674241
8 APC NM_000038.6(APC):c.4183A>T (p.Ser1395Cys) SNV Pathogenic 817 rs137854578 GRCh37: 5:112175474-112175474
GRCh38: 5:112839777-112839777
9 CDK4 NM_000075.4(CDK4):c.625C>T (p.Arg209Cys) SNV Uncertain significance 135825 rs140644696 GRCh37: 12:58144446-58144446
GRCh38: 12:57750663-57750663
10 STK11 NM_000455.4(STK11):c.397G>A (p.Val133Met) SNV Uncertain significance 182906 rs567769257 GRCh37: 19:1219345-1219345
GRCh38: 19:1219346-1219346

Copy number variations for Hepatoblastoma from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 48504 11 1 52900000 Methylation IGF2 Hepatoblastoma
2 48501 11 1 52900000 Methylation H19 Hepatoblastoma

Expression for Hepatoblastoma

Search GEO for disease gene expression data for Hepatoblastoma.

Pathways for Hepatoblastoma

Pathways related to Hepatoblastoma according to KEGG:

36
# Name Kegg Source Accession
1 Wnt signaling pathway hsa04310

Pathways related to Hepatoblastoma according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.79 TP53 IGF2 HGF CTNNB1 CASP3 APC
2
Show member pathways
12.59 TP53 IGF2 HGF CTNNB1 APC
3
Show member pathways
12.53 TP53 HGF CTNNB1 CASP3 APC
4 12.46 TP53 IGF2 HGF CTNNB1 CASP3 APC
5 12.24 TP53 HNF1A CTNNB1 APC
6 11.95 TP53 CTNNB1 CASP3 APC
7 11.74 TP53 HGF APC AFP
8 11.41 TP53 IGF2 HGF GPC3 CTNNB1 CASP3
9 11.4 TP53 CASP3 APC
10 11.34 TP53 HNF1A CASP3
11 11.3 TP53 IGF2 CTNNB1 APC
12 11.24 HNF1A CTNNB1 APC
13 11.19 HNF1A APOA1 AFP
14 10.81 HGF CTNNB1 APC

GO Terms for Hepatoblastoma

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

# Name GO ID Score Top Affiliating Genes
1 beta-catenin destruction complex GO:0030877 8.96 CTNNB1 APC
2 Wnt signalosome GO:1990909 8.62 CTNNB1 APC

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

# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.56 TP53 PPARA CTNNB1 CASP3
2 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.5 TP53 IGF2 HGF
3 positive regulation of transcription by RNA polymerase II GO:0045944 9.5 TP53 PPARA PLAG1 IGF2 HNF1A HGF
4 cellular protein metabolic process GO:0044267 9.46 IGF2 GPC3 APOA1 AFP
5 positive regulation of neuron apoptotic process GO:0043525 8.8 TP53 CTNNB1 CASP3

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

# Name GO ID Score Top Affiliating Genes
1 MDM2/MDM4 family protein binding GO:0097371 8.62 TP53 PPARA

Sources for Hepatoblastoma

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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