MCID: RHB001
MIFTS: 53

Rhabdoid Cancer

Categories: Rare diseases, Cancer diseases, Nephrological diseases, Neuronal diseases, Genetic diseases

Aliases & Classifications for Rhabdoid Cancer

MalaCards integrated aliases for Rhabdoid Cancer:

Name: Rhabdoid Cancer 12 14
Rhabdoid Tumor 12 50 56 29 52 42 69
Rhabdoid Tumor Predisposition Syndrome 1 50 24 69
Rhabdoid Tumor Predisposition Syndrome 2 50 69
Malignant Rhabdoid Tumor 50 56
Rhabdoid Sarcoma 12 50
Brain Tumor, Posterior Fossa, of Infancy, Familial 50
Familial Posterior Fossa Brain Tumor of Infancy 24
Atypical Teratoid Rhabdoid Tumor 50
Atypical Teratoid/rhabdoid Tumor 69
Malignant Rhabdoid Tumour 12
Rtps1 24

Characteristics:

Orphanet epidemiological data:

56
rhabdoid tumor
Prevalence: <1/1000000 (Europe); Age of onset: Antenatal,Childhood,Infancy,Neonatal; Age of death: early childhood,infantile,stillbirth;

Classifications:



Summaries for Rhabdoid Cancer

NIH Rare Diseases : 50 rhabdoid tumor (rt) is an aggressive pediatric soft tissuesarcoma that arises in the kidney, the liver, the peripheral nerves and all miscellaneous soft-parts throughout the body. rt involving the central nervous system (cns) is called atypical teratoid rhabdoid tumor. rt usually occurs in infancy or childhood. in most cases, the first symptoms are linked to the compressive effects of a bulky tumor (such as respiratory distress, abdominal mass, peripheral nerve palsy). in about 90% of cases it is caused by a mutation in the smarcb1 gene, which is a tumor suppressor gene. in rare cases, it may be caused by a mutation in the smarca4 gene. no standard care exists for rt, although there are many ongoing studies. treatment includes resection of the tumor mass and chemotherapy and radiotherapy. because atypical teratoid rhabdoid tumors and rhabdoid tumors of the kidney have the same gene mutation and similar biopsy findings, they are now considered identical or closely related entities. also, 10-15% of patients with malignant rhabdoid tumors have brain tumors. last updated: 4/24/2015

MalaCards based summary : Rhabdoid Cancer, also known as rhabdoid tumor, is related to epithelioid sarcoma and rhabdoid tumors, somatic, and has symptoms including irritability, hematuria and hypertension. An important gene associated with Rhabdoid Cancer is SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1), and among its related pathways/superpathways are Cytoskeletal Signaling and Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs Carboplatin and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include brain, kidney and liver, and related phenotypes are Increased shRNA abundance (Z-score > 2) and cellular

Disease Ontology : 12 A childhood kidney neoplasm that is located in the in the kidney as well as other locations outside the kidneys such as the liver, muscle, heart, lung, soft tissues, skin, the central nervous system.

Wikipedia : 72 Malignant rhabdoid tumour (MRT) is a very aggressive form of tumour originally described as a variant of... more...

Related Diseases for Rhabdoid Cancer

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

(show top 50) (show all 239)
id Related Disease Score Top Affiliating Genes
1 epithelioid sarcoma 30.2 MUC1 SMARCA4 SYP WT1
2 rhabdoid tumors, somatic 12.4
3 atypical teratoid rhabdoid tumor 12.4
4 rhabdoid tumor predisposition syndrome 2 12.3
5 familial rhabdoid tumor 12.0
6 kidney rhabdoid cancer 11.9
7 striated muscle rhabdoid tumor 11.9
8 medulloblastoma 11.3
9 ehlers-danlos syndrome, vascular-like type 11.0 SMARCA4 SMARCB1
10 basophilic carcinoma 10.8 SYP WT1
11 neurogenic thoracic outlet syndrome 10.8 SYP VIM
12 basosquamous carcinoma 10.8 SMARCB1 VIM
13 lymphocytic hypophysitis 10.7 ACTC1 VIM
14 urethral urothelial papilloma 10.7 SMARCA4 SMARCB1 VIM
15 gastric signet ring cell adenocarcinoma 10.7 ACTC1 VIM
16 exotropia 10.7 MUC1 WT1
17 iridogoniodysgenesis and skeletal anomalies 10.7 ACTC1 VIM
18 cutaneous liposarcoma 10.7 MYOD1 SMARCB1 WT1
19 cortical blindness 10.7 PTPRC VIM
20 myeloid/lymphoid neoplasm associated with pdgfra rearrangement 10.7 MUC1 VIM
21 localized pulmonary fibrosis 10.7 ACTC1 PTPRC
22 infantile scoliosis 10.7 DES VIM
23 omphalocele 10.7 DES MYOD1
24 testis rhabdomyosarcoma 10.6 DES MYOD1
25 vulvar angiokeratoma 10.6 MUC1 VIM
26 lymphocytic infiltrate of jessner 10.6 DES VIM
27 noninvasive malignant thymoma 10.6 MUC1 VIM
28 adult medulloblastoma 10.6 SYP VIM
29 congenital sucrase-isomaltase deficiency with starch intolerance 10.6 MUC1 PTPRC
30 marfanoid habitus-inguinal hernia-advanced bone age syndrome 10.6 ACTC1 DES
31 reticular pattern testicular yolk sac tumor 10.6 MUC1 SYP VIM
32 anaplastic oligodendroglioma 10.6 MUC1 SYP VIM
33 telo2-related intellectual disability-neurodevelopmental disorder 10.6 ACTC1 DES
34 pyoderma 10.6 MUC1 VIM
35 dendritic cell thymoma 10.6 DES MUC1
36 persian gulf syndrome 10.6 MUC1 VIM WT1
37 pancreatic intraductal papillary-colloid carcinoma 10.6 MUC1 VIM
38 ovary papillary carcinoma 10.5 MUC1 VIM WT1
39 papillary glioneuronal tumor 10.5 ACTC1 SYP VIM
40 bladder colloid adenocarcinoma 10.5 MUC1 VIM
41 epidermolysa bullosa simplex with muscular dystrophy 10.5 MUC1 SYP VIM
42 pseudounicornuate uterus 10.5 IGF2 VIM
43 posterior urethra cancer 10.5 ENO2 SMARCB1
44 paranasal sinus cancer 10.5 ENO2 SYP
45 ampulla of vater small cell carcinoma 10.5 ENO2 SYP
46 ovarian mucinous adenocarcinoma 10.5 MUC1 PTPRC VIM
47 space motion sickness 10.5 DES SYP VIM
48 lice infestation 10.5 MUC1 VIM
49 nodular medulloblastoma 10.5 ENO2 SMARCB1
50 childhood choriocarcinoma of the ovary 10.5 ENO2 SYP

Graphical network of the top 20 diseases related to Rhabdoid Cancer:



Diseases related to Rhabdoid Cancer

Symptoms & Phenotypes for Rhabdoid Cancer

Human phenotypes related to Rhabdoid Cancer:

56 32 (show all 24)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 irritability 56 32 frequent (33%) Frequent (79-30%) HP:0000737
2 hematuria 56 32 frequent (33%) Frequent (79-30%) HP:0000790
3 hypertension 56 32 frequent (33%) Frequent (79-30%) HP:0000822
4 subcutaneous nodule 56 32 frequent (33%) Frequent (79-30%) HP:0001482
5 weight loss 56 32 frequent (33%) Frequent (79-30%) HP:0001824
6 thrombocytopenia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001873
7 anemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001903
8 fever 56 32 frequent (33%) Frequent (79-30%) HP:0001945
9 nausea and vomiting 56 32 frequent (33%) Frequent (79-30%) HP:0002017
10 abdominal pain 56 32 frequent (33%) Frequent (79-30%) HP:0002027
11 respiratory insufficiency 56 32 frequent (33%) Frequent (79-30%) HP:0002093
12 hemiplegia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002301
13 headache 56 32 frequent (33%) Frequent (79-30%) HP:0002315
14 lymphadenopathy 56 32 frequent (33%) Frequent (79-30%) HP:0002716
15 neoplasm of the liver 56 32 frequent (33%) Frequent (79-30%) HP:0002896
16 hypercalcemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0003072
17 poor appetite 56 32 frequent (33%) Frequent (79-30%) HP:0004396
18 cranial nerve paralysis 56 32 frequent (33%) Frequent (79-30%) HP:0006824
19 renal neoplasm 56 32 frequent (33%) Frequent (79-30%) HP:0009726
20 internal hemorrhage 56 32 frequent (33%) Frequent (79-30%) HP:0011029
21 oculomotor nerve palsy 56 32 frequent (33%) Frequent (79-30%) HP:0012246
22 neoplasm of the central nervous system 56 32 frequent (33%) Frequent (79-30%) HP:0100006
23 cerebral palsy 56 32 frequent (33%) Frequent (79-30%) HP:0100021
24 sarcoma 56 32 frequent (33%) Frequent (79-30%) HP:0100242

GenomeRNAi Phenotypes related to Rhabdoid Cancer according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.96 SMARCB1 WT1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.96 SMARCA4
3 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.96 VIM
4 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.96 SMARCB1 SMARCA4
5 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.96 IGF1R
6 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.96 SMARCB1 WT1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.96 IGF1R
8 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.96 VIM
9 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.96 WT1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.96 IGF1R
11 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.96 SMARCA4
12 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.96 SMARCB1 VIM
13 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.96 VIM IGF1R SMARCA4
14 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.96 VIM
15 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.96 VIM
16 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.96 SMARCB1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.96 IGF1R
18 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.96 IGF1R WT1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.96 WT1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.96 VIM
21 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.96 VIM WT1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.96 WT1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.96 IGF1R WT1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.96 IGF1R WT1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.96 VIM
26 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.96 IGF1R
27 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.96 SMARCB1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.96 SMARCB1 VIM IGF1R WT1 SMARCA4
29 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.96 SMARCA4

MGI Mouse Phenotypes related to Rhabdoid Cancer:

44 (show all 11)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.29 SPP1 STIM1 VIM WT1 ACTC1 DES
2 cardiovascular system MP:0005385 10.27 ACTC1 DES IGF1R IGF2 MB MYOD1
3 growth/size/body region MP:0005378 10.23 ACTC1 ENO2 IGF1R IGF2 MB MYOD1
4 homeostasis/metabolism MP:0005376 10.22 SPP1 STIM1 VIM WT1 ACTC1 DES
5 hematopoietic system MP:0005397 10.13 IGF1R IGF2 MB PTPRC SMARCA4 SMARCB1
6 mortality/aging MP:0010768 10.13 SMARCB1 SPP1 STIM1 VIM WT1 ACTC1
7 muscle MP:0005369 10 IGF2 MB MYOD1 SMARCA4 SMARCB1 SPP1
8 liver/biliary system MP:0005370 9.91 SPP1 WT1 IGF1R IGF2 PTPRC SMARCA4
9 neoplasm MP:0002006 9.7 IGF1R MYOD1 PTPRC SMARCA4 SMARCB1 SPP1
10 nervous system MP:0003631 9.65 ENO2 IGF1R IGF2 PTPRC SMARCA4 SMARCB1
11 respiratory system MP:0005388 9.36 ENO2 IGF1R IGF2 MB MYOD1 PTPRC

Drugs & Therapeutics for Rhabdoid Cancer

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

(show top 50) (show all 152)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carboplatin Approved Phase 2, Phase 3, Phase 1 41575-94-4 10339178 498142 38904
2
Cyclophosphamide Approved, Investigational Phase 2, Phase 3, Phase 1 50-18-0, 6055-19-2 2907
3
Etoposide Approved Phase 2, Phase 3, Phase 1, Early Phase 1 33419-42-0 36462
4
Melphalan Approved Phase 2, Phase 3,Phase 1 148-82-3 4053 460612
5 Thiotepa Approved Phase 2, Phase 3, Phase 1 52-24-4 5453
6
Cisplatin Approved Phase 3,Phase 2,Phase 1 15663-27-1 84093 441203 2767
7
Lenograstim Approved Phase 3,Phase 2,Phase 1 135968-09-1
8
Methotrexate Approved Phase 3,Phase 2,Phase 1,Early Phase 1 1959-05-2, 59-05-2 126941
9
Temozolomide Approved, Investigational Phase 3,Phase 2,Phase 1 85622-93-1 5394
10
Vincristine Approved, Investigational Phase 3,Phase 2,Phase 1 2068-78-2, 57-22-7 5978
11
Dactinomycin Approved Phase 3,Phase 2 50-76-0 2019 457193
12
Doxorubicin Approved, Investigational Phase 3,Phase 2 23214-92-8 31703
13
Sulfamethoxazole Approved Phase 3 723-46-6 5329
14
Trimethoprim Approved, Vet_approved Phase 3 738-70-5 5578
15
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
16
Levoleucovorin Approved Phase 3,Phase 2,Early Phase 1 68538-85-2
17
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2,Phase 1,Early Phase 1 59-30-3 6037
18
leucovorin Approved, Nutraceutical Phase 3,Phase 2,Phase 1,Early Phase 1 58-05-9 143 6006
19
Doxil Approved June 1999 Phase 3,Phase 2 31703
20 Pancreatic Polypeptide Investigational Phase 3 59763-91-6
21 Etoposide phosphate Phase 2, Phase 3, Phase 1, Early Phase 1
22 Alkylating Agents Phase 3,Phase 2,Phase 1
23 Antimetabolites Phase 3,Phase 2,Phase 1,Early Phase 1
24 Antimetabolites, Antineoplastic Phase 3,Phase 2,Phase 1,Early Phase 1
25 Antimitotic Agents Phase 3,Phase 2,Phase 1
26 Antineoplastic Agents, Phytogenic Phase 3,Phase 2,Phase 1,Early Phase 1
27 Antirheumatic Agents Phase 3,Phase 2,Phase 1,Early Phase 1
28 Dermatologic Agents Phase 3,Phase 2,Phase 1,Early Phase 1
29 Folic Acid Antagonists Phase 3,Phase 2,Phase 1,Early Phase 1
30 Immunosuppressive Agents Phase 3,Phase 2,Phase 1,Early Phase 1
31 Nucleic Acid Synthesis Inhibitors Phase 3,Phase 2,Phase 1,Early Phase 1
32 Topoisomerase Inhibitors Phase 3,Phase 2,Phase 1,Early Phase 1
33 Vitamin B Complex Phase 3,Phase 2,Phase 1,Early Phase 1
34 Adjuvants, Immunologic Phase 3,Phase 2,Phase 1
35 Liver Extracts Phase 3,Phase 1,Phase 2
36 Protective Agents Phase 3,Phase 2,Phase 1
37 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1
38 Antibiotics, Antitubercular Phase 3,Phase 2,Phase 1
39 Anti-Infective Agents Phase 3,Phase 2,Phase 1
40 Adjuvants, Anesthesia Phase 3
41 Analgesics Phase 3
42 Analgesics, Opioid Phase 3
43 Anesthetics Phase 3
44 Anesthetics, General Phase 3
45 Anesthetics, Intravenous Phase 3
46 Central Nervous System Depressants Phase 3
47 Narcotics Phase 3
48 Peripheral Nervous System Agents Phase 3,Phase 1
49 Antidotes Phase 3,Phase 2,Phase 1
50 Calcium, Dietary Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 80)

id Name Status NCT ID Phase Drugs
1 Stem Cell Transplant for High Risk Central Nervous System (CNS) Tumors Unknown status NCT00179803 Phase 2, Phase 3
2 Combination Chemotherapy With or Without Etoposide Followed By an Autologous Stem Cell Transplant in Treating Young Patients With Previously Untreated Malignant Brain Tumors Unknown status NCT00392886 Phase 3 carboplatin;cisplatin;cyclophosphamide;etoposide;methotrexate;temozolomide;thiotepa;vincristine sulfate
3 Chemotherapy With or Without Surgery, Radiation Therapy, or Stem Cell Transplantation in Treating Young Patients With Kidney Tumors Completed NCT00002610 Phase 3 carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;vincristine sulfate
4 Combination Chemotherapy Followed by Second-Look Surgery and Radiation Therapy in Treating Children With Nonmetastatic Medulloblastoma or Primitive Neuroectodermal Tumor Completed NCT00006461 Phase 3 cisplatin;cyclophosphamide;vincristine sulfate;etoposide
5 Fentanyl Sublingual Spray in Treating Patients With Breakthrough Cancer Pain Completed NCT00538850 Phase 3 Fentanyl sublingual spray;Placebo
6 Combination Chemotherapy, Radiation Therapy, and an Autologous Peripheral Blood Stem Cell Transplant in Treating Young Patients With Atypical Teratoid/Rhabdoid Tumor of the Central Nervous System Active, not recruiting NCT00653068 Phase 3 methotrexate;leucovorin calcium;etoposide;cyclophosphamide;cisplatin;carboplatin;thiotepa;vincristine sulfate
7 Treatment of Patients With Newly Diagnosed Medulloblastoma, Supratentorial Primitive Neuroectodermal Tumor, or Atypical Teratoid Rhabdoid Tumor Active, not recruiting NCT00085202 Phase 3 cisplatin;cyclophosphamide;vincristine
8 Oxaliplatin in Treating Children With Recurrent or Refractory Medulloblastoma, Supratentorial Primitive Neuroectodermal Tumor, or Atypical Teratoid Rhabdoid Tumor Completed NCT00047177 Phase 2 Oxaliplatin
9 Chemotherapy Combined With Radiation Therapy for Newly Diagnosed CNS AT/RT Completed NCT00084838 Phase 2 cisplatin;cyclophosphamide;cytarabine;dexrazoxane hydrochloride;doxorubicin hydrochloride;etoposide;leucovorin calcium;methotrexate;temozolomide;therapeutic hydrocortisone;vincristine sulfate;Dactinomycin
10 Combination Chemotherapy, Radiation Therapy, and/or Surgery in Treating Patients With High-Risk Kidney Tumors Completed NCT00335556 Phase 2 Doxorubicin Hydrochloride;Irinotecan Hydrochloride;Cyclophosphamide;Etoposide;Carboplatin;Vincristine Sulfate
11 Alisertib in Treating Young Patients With Recurrent or Refractory Solid Tumors or Leukemia Completed NCT01154816 Phase 2 Alisertib
12 Chemotherapy in Treating Patients With Solid Tumors Completed NCT00003103 Phase 1, Phase 2 docetaxel
13 Phase 2 Study of Alisertib Therapy for Rhabdoid Tumors Recruiting NCT02114229 Phase 2 alisertib;methotrexate;cisplatin;carboplatin;cyclophosphamide;etoposide;topotecan;vincristine
14 A Phase II, Multicenter Study of the EZH2 Inhibitor Tazemetostat in Adult Subjects With INI1-Negative Tumors or Relapsed/Refractory Synovial Sarcoma Recruiting NCT02601950 Phase 2 Tazemetostat
15 Melphalan, Carboplatin, Mannitol, and Sodium Thiosulfate in Treating Patients With Recurrent or Progressive CNS Embryonal or Germ Cell Tumors Recruiting NCT00983398 Phase 1, Phase 2 Carboplatin;Mannitol;Melphalan;Sodium Thiosulfate
16 Phase II Study of Intraventricular Methotrexate in Children With Recurrent or Progressive Malignant Brain Tumors Recruiting NCT02684071 Phase 2 Intra thecal methotrexate;topotecan;cyclophosphamide
17 Pediatric MATCH: Olaparib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With Defects in DNA Damage Repair Genes Recruiting NCT03233204 Phase 2 Olaparib
18 Pediatric MATCH: Tazemetostat in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With EZH2, SMARCB1, or SMARCA4 Gene Mutations Recruiting NCT03213665 Phase 2 Tazemetostat
19 Pediatric MATCH: Vemurafenib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With BRAF V600 Mutations Recruiting NCT03220035 Phase 2 Vemurafenib
20 Pediatric MATCH: PI3K/mTOR Inhibitor LY3023414 in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With TSC or PI3K/MTOR Mutations Recruiting NCT03213678 Phase 2 PI3K/mTOR Inhibitor LY3023414
21 Pediatric MATCH: Targeted Therapy Directed by Genetic Testing in Treating Pediatric Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphomas, or Histiocytic Disorders Recruiting NCT03155620 Phase 2 Ensartinib;Erdafitinib;Larotrectinib;Olaparib;PI3K/mTOR Inhibitor LY3023414;Selumetinib Sulfate;Tazemetostat;Vemurafenib
22 Pediatric MATCH: Trk Inhibitor LOXO-101 in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With NTRK Fusions Recruiting NCT03213704 Phase 2 Larotrectinib
23 A Study to Evaluate the Safety, Tolerability, Pharmacokinetics, Immunogenicity, and Preliminary Efficacy of Atezolizumab (Anti-Programmed Death-Ligand 1 [PD-L1] Antibody) in Pediatric and Young Adult Participants With Solid Tumors Recruiting NCT02541604 Phase 1, Phase 2 Atezolizumab
24 Dasatinib, Ifosfamide, Carboplatin, and Etoposide in Treating Young Patients With Metastatic or Recurrent Malignant Solid Tumors Active, not recruiting NCT00788125 Phase 1, Phase 2 carboplatin;dasatinib;etoposide phosphate;ifosfamide
25 Iodine I 131 Monoclonal Antibody 3F8 in Treating Patients With Central Nervous System Cancer or Leptomeningeal Cancer Active, not recruiting NCT00445965 Phase 2
26 Crizotinib in Treating Young Patients With Relapsed or Refractory Solid Tumors or Anaplastic Large Cell Lymphoma Active, not recruiting NCT00939770 Phase 1, Phase 2 crizotinib
27 Risk-Adapted Therapy for Young Children With Embryonal Brain Tumors, Choroid Plexus Carcinoma, High Grade Glioma or Ependymoma Active, not recruiting NCT00602667 Phase 2 Induction Chemotherapy;Low-Risk Therapy;High-Risk Therapy;Intermediate-Risk Therapy
28 Pediatric MATCH: Pan-FGFR Tyrosine Kinase Inhibitor JNJ-42756493 in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With FGFR Mutations Not yet recruiting NCT03210714 Phase 2 Erdafitinib
29 Antineoplaston Therapy in Treating Children With Rhabdoid Tumor of the Central Nervous System Terminated NCT00003469 Phase 2 Antineoplaston therapy (Atengenal + Astugenal)
30 Safety Study of Seneca Valley Virus in Patients With Solid Tumors With Neuroendocrine Features Unknown status NCT00314925 Phase 1 Seneca Valley Virus (biological agent)
31 Peripheral Stem Cell Transplantation Plus Chemotherapy in Treating Patients With Malignant Solid Tumors Unknown status NCT00007813 Phase 1 carboplatin;cyclophosphamide;etoposide
32 Study of Safety and Efficacy in Patients With Malignant Rhabdoid Tumors (MRT) and Neuroblastoma Completed NCT01747876 Phase 1 LEE011
33 Vorinostat With or Without Isotretinoin in Treating Young Patients With Recurrent or Refractory Solid Tumors, Lymphoma, or Leukemia Completed NCT00217412 Phase 1 vorinostat;isotretinoin
34 Lenalidomide in Treating Young Patients With Recurrent, Progressive, or Refractory CNS Tumors Completed NCT00100880 Phase 1 lenalidomide
35 ABT-888 and Temozolomide in Treating Young Patients With Recurrent or Refractory CNS Tumors Completed NCT00946335 Phase 1 veliparib;temozolomide
36 AZD2171 in Treating Young Patients With Recurrent, Progressive, or Refractory Primary CNS Tumors Completed NCT00326664 Phase 1 Cediranib Maleate
37 Vorinostat and Temozolomide in Treating Young Patients With Relapsed or Refractory Primary Brain Tumors or Spinal Cord Tumors Completed NCT01076530 Phase 1 vorinostat;temozolomide
38 Thalidomide and Docetaxel in Treating Patients With Advanced Cancer Completed NCT00049296 Phase 1 docetaxel;thalidomide
39 SCH 66336 in Treating Children With Recurrent or Progressive Brain Tumors Completed NCT00015899 Phase 1 lonafarnib
40 Chemotherapy and Stem Cell Transplantation in Treating Children With Central Nervous System Cancer Completed NCT00053118 Phase 1 carboplatin;etoposide
41 Temozolomide, Vincristine, and Irinotecan in Treating Young Patients With Refractory Solid Tumors Completed NCT00138216 Phase 1 irinotecan hydrochloride;temozolomide;vincristine sulfate
42 Chemotherapy Plus Peripheral Stem Cell Transplantation in Treating Infants With Malignant Brain or Spinal Cord Tumors Completed NCT00003141 Phase 1 carboplatin;cisplatin;cyclophosphamide;etoposide;thiotepa;vincristine sulfate
43 Talabostat Combined With Temozolomide or Carboplatin in Treating Young Patients With Relapsed or Refractory Brain Tumors or Other Solid Tumors Completed NCT00303940 Phase 1 carboplatin;talabostat mesylate;temozolomide
44 Modified Measles Virus (MV-NIS) for Children and Young Adults With Recurrent Medulloblastoma or Recurrent ATRT Recruiting NCT02962167 Phase 1
45 A Phase 1 Study of the EZH2 Inhibitor Tazemetostat in Pediatric Subjects With Relapsed or Refractory INI1-Negative Tumors or Synovial Sarcoma Recruiting NCT02601937 Phase 1 Tazemetostat
46 Methotrexate Infusion Into Fourth Ventricle in Children With Recurrent Malignant Fourth Ventricular Brain Tumors Recruiting NCT02458339 Phase 1 Methotrexate
47 Simvastatin With Topotecan and Cyclophosphamide in Relapsed and/or Refractory Pediatric Solid and CNS Tumors Recruiting NCT02390843 Phase 1 Simvastatin;Cyclophosphamide;Topotecan;Myeloid growth factor
48 Abemaciclib in Children With DIPG or Recurrent/Refractory Solid Tumors Recruiting NCT02644460 Phase 1 Abemaciclib
49 HSV G207 Alone or With a Single Radiation Dose in Children With Progressive or Recurrent Supratentorial Brain Tumors Recruiting NCT02457845 Phase 1
50 Radiolabeled Monoclonal Antibody Therapy in Treating Patients With Refractory, Recurrent, or Advanced CNS or Leptomeningeal Cancer Recruiting NCT00089245 Phase 1

Search NIH Clinical Center for Rhabdoid Cancer

Cochrane evidence based reviews: rhabdoid tumor

Genetic Tests for Rhabdoid Cancer

Genetic tests related to Rhabdoid Cancer:

id Genetic test Affiliating Genes
1 Rhabdoid Tumor 29

Anatomical Context for Rhabdoid Cancer

MalaCards organs/tissues related to Rhabdoid Cancer:

39
Brain, Kidney, Liver, Skin, Heart, Lung, Spinal Cord

Publications for Rhabdoid Cancer

Articles related to Rhabdoid Cancer:

id Title Authors Year
1
A remarkably simple genome underlies highly malignant pediatric rhabdoid cancers. ( 22797305 )
2012
2
Primary rhabdoid cancer of the ileum: a case report and review of the literature. ( 19369011 )
2010

Variations for Rhabdoid Cancer

ClinVar genetic disease variations for Rhabdoid Cancer:

6 (show all 20)
id Gene Variation Type Significance SNP ID Assembly Location
1 SMARCA4 NM_001128844.1(SMARCA4): c.3565C> T (p.Arg1189Ter) single nucleotide variant Pathogenic rs267607070 GRCh37 Chromosome 19, 11143984: 11143984
2 SMARCB1 NM_003073.4(SMARCB1): c.591delG (p.Gln198Argfs) deletion Pathogenic rs587776678 GRCh37 Chromosome 22, 24145572: 24145572
3 SMARCB1 SMARCB1, IVS7DS, G-A, +1 single nucleotide variant Pathogenic
4 SMARCB1 NM_003073.4(SMARCB1): c.629-361_795+2103dup duplication Pathogenic GRCh38 Chromosome 22, 23816409: 23819039
5 SMARCA4 NM_003072.3(SMARCA4): c.3533G> A (p.Trp1178Ter) single nucleotide variant Pathogenic rs587777460 GRCh38 Chromosome 19, 11030880: 11030880
6 SMARCA4 NM_001128845.1(SMARCA4): c.4071+1G> A single nucleotide variant Pathogenic rs587777461 GRCh38 Chromosome 19, 11035133: 11035133
7 SMARCA4 NM_001128849.1(SMARCA4): c.643C> T (p.Gln215Ter) single nucleotide variant Pathogenic rs587777462 GRCh37 Chromosome 19, 11097152: 11097152
8 SMARCA4 NM_001128845.1(SMARCA4): c.2617-3C> G single nucleotide variant Pathogenic rs587777463 GRCh38 Chromosome 19, 11021722: 11021722
9 SMARCA4 NM_001128849.1(SMARCA4): c.3239G> A (p.Gly1080Asp) single nucleotide variant Pathogenic rs587777464 GRCh38 Chromosome 19, 11027807: 11027807
10 SMARCA4 NM_001128849.1(SMARCA4): c.2922delC (p.Phe975Serfs) deletion Pathogenic rs797045980 GRCh37 Chromosome 19, 11134256: 11134256
11 SMARCA4 NM_001128849.1(SMARCA4): c.3480dupG (p.Leu1161Alafs) duplication Pathogenic rs797045982 GRCh37 Chromosome 19, 11141503: 11141503
12 SMARCA4 NM_001128849.1(SMARCA4): c.4763delT (p.Val1588Alafs) deletion Pathogenic rs797045987 GRCh37 Chromosome 19, 11170460: 11170460
13 SMARCA4 NM_001128849.1(SMARCA4): c.4339C> T (p.Arg1447Ter) single nucleotide variant Pathogenic rs878854224 GRCh37 Chromosome 19, 11152055: 11152055
14 SMARCB1 NM_003073.4(SMARCB1): c.*82C> T single nucleotide variant Pathogenic rs878854600 GRCh38 Chromosome 22, 23834262: 23834262
15 SMARCA4 NM_001128849.1(SMARCA4): c.662delC (p.Pro221Leufs) deletion Pathogenic rs1060502085 GRCh38 Chromosome 19, 10986495: 10986495
16 SMARCA4 NC_000019.10: g.(?_10984121)_(11062282_?)del deletion Pathogenic GRCh37 Chromosome 19, 11094797: 11172958
17 SMARCA4 NM_001128849.1(SMARCA4): c.4208delG (p.Ser1403Metfs) deletion Pathogenic rs1060502088 GRCh38 Chromosome 19, 11039495: 11039495
18 SMARCB1 NM_003073.4(SMARCB1): c.969_976delGAAGACCT (p.Lys324Argfs) deletion Pathogenic rs1060503017 GRCh38 Chromosome 22, 23825398: 23825405
19 SMARCB1 NM_003073.4(SMARCB1): c.118C> T (p.Arg40Ter) single nucleotide variant Pathogenic rs1060503015 GRCh38 Chromosome 22, 23791780: 23791780
20 SMARCB1 NM_003073.4(SMARCB1): c.152G> A (p.Trp51Ter) single nucleotide variant Pathogenic rs1060503016 GRCh38 Chromosome 22, 23791814: 23791814

Cosmic variations for Rhabdoid Cancer:

9 (show all 39)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM1059 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.916G>T p.E306* 13
2 COSM1002 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.118C>T p.R40* 13
3 COSM24595 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.157C>T p.R53* 13
4 COSM992 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.472C>T p.R158* 13
5 COSM994 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.618G>A p.W206* 13
6 COSM1053 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.146C>A p.S49* 13
7 COSM1055 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.793A>T p.K265* 13
8 COSM1085 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.629-1G>A p.? 13
9 COSM29385 SMARCB1 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.425T>G p.L142* 13
10 COSM84488 SMARCA4 central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.3229C>T p.R1077* 13
11 COSM584 NRAS central nervous system,brain,atypical teratoid-rhabdoid tumour,NS c.182A>G p.Q61R 13
12 COSM1100 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.629-2A>G p.? 9
13 COSM991 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.141C>A p.Y47* 9
14 COSM1004 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.646G>T p.E216* 9
15 COSM1070 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.631A>T p.K211* 9
16 COSM1071 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.838G>T p.E280* 9
17 COSM53298 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.501-1G>C p.? 9
18 COSM1072 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.142C>T p.P48S 9
19 COSM990 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.778C>T p.Q260* 9
20 COSM1058 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.843G>A p.W281* 9
21 COSM53303 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.842G>A p.W281* 9
22 COSM1001 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.517C>T p.P173S 9
23 COSM4766058 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.689C>T p.P230L 9
24 COSM996 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.727C>T p.Q243* 9
25 COSM4766060 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.961T>A p.W321R 9
26 COSM1075 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.617G>A p.W206* 9
27 COSM1073 SMARCB1 soft tissue,striated muscle,rhabdoid tumour,NS c.851C>T p.S284L 9
28 COSM1651766 SMARCA4 soft tissue,striated muscle,rhabdoid tumour,NS c.2438+1G>T p.? 9
29 COSM3427747 PBRM1 soft tissue,striated muscle,rhabdoid tumour,NS c.1381C>T p.R461C 9
30 COSM4766064 PBRM1 soft tissue,striated muscle,rhabdoid tumour,NS c.469G>A p.A157T 9
31 COSM4766063 PBRM1 soft tissue,striated muscle,rhabdoid tumour,NS c.397G>A p.E133K 9
32 COSM5702591 NF2 central nervous system,brain,other,neoplasm c.575A>G p.Y192C 6
33 COSM28746 IDH1 central nervous system,brain,other,neoplasm c.395G>A p.R132H 6
34 COSM28747 IDH1 central nervous system,brain,other,neoplasm c.394C>T p.R132C 6
35 COSM28749 IDH1 central nervous system,brain,other,neoplasm c.394C>G p.R132G 6
36 COSM28748 IDH1 central nervous system,brain,other,neoplasm c.394C>A p.R132S 6
37 COSM28750 IDH1 central nervous system,brain,other,neoplasm c.395G>T p.R132L 6
38 COSM5702574 FOXO3 central nervous system,brain,other,neoplasm c.583A>T p.K195* 6
39 COSM5702592 central nervous system,brain,other,neoplasm c.575A>G p.Y192C 6

Expression for Rhabdoid Cancer

Search GEO for disease gene expression data for Rhabdoid Cancer.

Pathways for Rhabdoid Cancer

GO Terms for Rhabdoid Cancer

Cellular components related to Rhabdoid Cancer according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.91 ACTC1 DES ENO2 IGF2 MB MUC1
2 SWI/SNF complex GO:0016514 9.32 SMARCA4 SMARCB1
3 nBAF complex GO:0071565 9.16 SMARCA4 SMARCB1
4 npBAF complex GO:0071564 8.96 SMARCA4 SMARCB1
5 nuclear chromatin GO:0000790 8.92 MUC1 MYOD1 SMARCA4 SMARCB1

Biological processes related to Rhabdoid Cancer according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 nucleosome disassembly GO:0006337 9.43 SMARCA4 SMARCB1
2 intermediate filament organization GO:0045109 9.4 DES VIM
3 positive regulation by host of viral transcription GO:0043923 9.37 SMARCA4 SMARCB1
4 myotube differentiation GO:0014902 9.32 MYOD1 STIM1
5 positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter GO:1901838 9.26 SMARCA4 SMARCB1
6 positive regulation of histone H4 acetylation GO:0090240 9.16 MUC1 SMARCB1
7 muscle filament sliding GO:0030049 9.13 ACTC1 DES VIM
8 positive regulation of glucose mediated signaling pathway GO:1902661 8.62 SMARCA4 SMARCB1

Molecular functions related to Rhabdoid Cancer according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 p53 binding GO:0002039 9.33 MUC1 SMARCA4 SMARCB1
2 Tat protein binding GO:0030957 9.26 SMARCA4 SMARCB1
3 identical protein binding GO:0042802 9.1 DES EWSR1 IGF1R STIM1 SYP VIM
4 RNA polymerase I CORE element sequence-specific DNA binding GO:0001164 8.96 SMARCA4 SMARCB1

Sources for Rhabdoid Cancer

3 CDC
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16 ExPASy
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