RTPS
MCID: ATY005
MIFTS: 62

Atypical Teratoid Rhabdoid Tumor (RTPS)

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

Aliases & Classifications for Atypical Teratoid Rhabdoid Tumor

MalaCards integrated aliases for Atypical Teratoid Rhabdoid Tumor:

Name: Atypical Teratoid Rhabdoid Tumor 12 6 15 17
Rhabdoid Tumor Predisposition Syndrome 12 25 26 60 74
Atypical Teratoid/rhabdoid Tumor 12 6 74
Rhabdoid Predisposition Syndrome 25 26 38
Rtps 25 26 60
Familial Rhabdoid Tumor 26 60
Familial Posterior Fossa Brain Tumor of Infancy 26
Familial Posterior Fossa Brain Tumor Syndrome 26
Hereditary Swi/snf Deficiency Syndrome 26
Rhabdoid Tumor of the Cns 12
at/rt 12

Characteristics:

Orphanet epidemiological data:

60
familial rhabdoid tumor
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

GeneReviews:

25
Penetrance Smarca4. most individuals with smarca4-related rtps have inherited the pathogenic variant from an unaffected, healthy parent. in smarca4-related rtps the penetrance for rhabdoid tumor in the preceding generation of seven informative families was zero. however, in one family, two sibs with a smarca4 pathogenic variant were both affected [schneppenheim et al 2010, hasselblatt et al 2014]...

Classifications:



Summaries for Atypical Teratoid Rhabdoid Tumor

Genetics Home Reference : 26 Rhabdoid tumor predisposition syndrome (RTPS) is characterized by a high risk of developing cancerous (malignant) growths called rhabdoid tumors. These highly aggressive tumors are called rhabdoid because their cells resemble rhabdomyoblasts, which are cells that are normally found in embryos before birth and develop into muscles used for movement (skeletal muscles).

MalaCards based summary : Atypical Teratoid Rhabdoid Tumor, also known as rhabdoid tumor predisposition syndrome, is related to rhabdoid cancer and rhabdoid tumor predisposition syndrome 1. An important gene associated with Atypical Teratoid Rhabdoid Tumor is SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Pathways in cancer. The drugs Carboplatin and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and kidney, and related phenotypes are nausea and vomiting and irritability

Disease Ontology : 12 A brain cancer that is usually located in the brain, but can occur anywhere in the central nervous system.

Wikipedia : 77 An atypical teratoid rhabdoid tumor (AT/RT) is a rare tumor usually diagnosed in childhood. Although... more...

GeneReviews: NBK469816

Related Diseases for Atypical Teratoid Rhabdoid Tumor

Diseases related to Atypical Teratoid Rhabdoid Tumor via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 175)
# Related Disease Score Top Affiliating Genes
1 rhabdoid cancer 34.1 SMARCA4 SMARCB1 SYP TP53
2 rhabdoid tumor predisposition syndrome 1 31.7 IGF1R IGF2 SMARCB1 SPP1 SYP TP53
3 ganglioglioma 30.9 GFAP SMARCB1 SYP TP53
4 pineal gland cancer 30.9 GFAP SYP
5 pleomorphic xanthoastrocytoma 30.8 GFAP SMARCB1 SYP TP53
6 dysembryoplastic neuroepithelial tumor 30.8 GFAP SYP
7 choroid plexus cancer 30.7 ATRX GFAP SMARCB1 TP53
8 small cell carcinoma 30.6 SMARCA4 SYP TP53
9 nodular medulloblastoma 30.6 CTNNB1 GFAP SMARCB1
10 medulloblastoma 30.5 AURKA CCND1 CTNNB1 GFAP HOTAIR IGF1R
11 ependymoma 30.5 GFAP HOTAIR SYP
12 pineocytoma 30.4 GFAP SYP
13 glioblastoma 29.9 CCND1 HOTAIR IGF1R TP53
14 ewing sarcoma 29.7 CCND1 GFAP IGF1R IGF2 SYP TP53
15 rhabdoid tumor predisposition syndrome 2 11.5
16 tumor predisposition syndrome 10.5
17 desmoplastic infantile ganglioglioma 10.4 GFAP SYP
18 extraventricular neurocytoma 10.4 GFAP SYP
19 frontal convexity meningioma 10.4 GFAP TP53
20 sarcoma 10.4
21 ewing's family of tumors 10.4
22 gliofibroma 10.4 GFAP TP53
23 melanotic medulloblastoma 10.4 GFAP SMARCB1
24 lung combined type small cell carcinoma 10.4 GFAP SYP
25 rhabdoid meningioma 10.4 GFAP SMARCB1
26 central nervous system sarcoma 10.4 SMARCA4 SMARCB1
27 cerebral convexity meningioma 10.4 GFAP TP53
28 chordoid meningioma 10.4 GFAP SYP
29 protoplasmic astrocytoma 10.4 GFAP TP53
30 clear cell ependymoma 10.4 GFAP SYP
31 atypical follicular adenoma 10.4 SYP TP53
32 cerebellum cancer 10.4 SYP TP53
33 chiari malformation 10.4 GFAP SYP
34 olfactory groove meningioma 10.4 SYP TP53
35 extraosseous chondrosarcoma 10.4 SMARCB1 SYP
36 mixed glioma 10.4 GFAP TP53
37 spinal cancer 10.4 GFAP TP53
38 alpha thalassemia-x-linked intellectual disability syndrome 10.4 ATRX SMARCA4
39 subependymal glioma 10.4 GFAP SYP
40 ovarian small cell carcinoma 10.4 SMARCA4 SYP
41 malignant teratoma 10.3 SYP TP53
42 astroblastoma 10.3 GFAP SYP
43 tanycytic ependymoma 10.3 GFAP SMARCB1 SYP
44 non-proliferative fibrocystic change of the breast 10.3 CCND1 TP53
45 cerebellopontine angle tumor 10.3 GFAP SMARCB1 SYP
46 adult hepatocellular carcinoma 10.3 CTNNB1 TP53
47 melanotic neuroectodermal tumor 10.3 GFAP SYP
48 cellular ependymoma 10.3 GFAP SYP TP53
49 chordoid glioma 10.3 GFAP TP53
50 cystic teratoma 10.3 GFAP SYP TP53

Graphical network of the top 20 diseases related to Atypical Teratoid Rhabdoid Tumor:



Diseases related to Atypical Teratoid Rhabdoid Tumor

Symptoms & Phenotypes for Atypical Teratoid Rhabdoid Tumor

Human phenotypes related to Atypical Teratoid Rhabdoid Tumor:

33 (show all 16)
# Description HPO Frequency HPO Source Accession
1 nausea and vomiting 33 hallmark (90%) HP:0002017
2 irritability 33 hallmark (90%) HP:0000737
3 apathy 33 hallmark (90%) HP:0000741
4 malignant neoplasm of the central nervous system 33 hallmark (90%) HP:0100836
5 macrocephaly 33 frequent (33%) HP:0000256
6 hydrocephalus 33 frequent (33%) HP:0000238
7 seizures 33 frequent (33%) HP:0001250
8 ataxia 33 frequent (33%) HP:0001251
9 muscle weakness 33 frequent (33%) HP:0001324
10 reduced consciousness/confusion 33 frequent (33%) HP:0004372
11 hemiplegia/hemiparesis 33 frequent (33%) HP:0004374
12 limitation of joint mobility 33 frequent (33%) HP:0001376
13 migraine 33 frequent (33%) HP:0002076
14 cerebral calcification 33 occasional (7.5%) HP:0002514
15 cranial nerve paralysis 33 occasional (7.5%) HP:0006824
16 cerebral palsy 33 occasional (7.5%) HP:0100021

GenomeRNAi Phenotypes related to Atypical Teratoid Rhabdoid Tumor according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell death HMECs cells GR00103-A-0 9.35 ATRX AURKA CTNNB1 IGF1R TP53
2 Increased proliferation GR00094-A 8.62 SMARCB1 TP53

MGI Mouse Phenotypes related to Atypical Teratoid Rhabdoid Tumor:

47 (show all 21)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.36 ATRX AURKA CCND1 CTNNB1 GFAP IGF1R
2 behavior/neurological MP:0005386 10.34 ATRX CCND1 CTNNB1 GFAP IGF1R IGF2
3 cardiovascular system MP:0005385 10.33 ATRX CCND1 CTNNB1 GFAP IGF1R IGF2
4 growth/size/body region MP:0005378 10.33 ATRX AURKA CCND1 CTNNB1 GFAP IGF1R
5 mortality/aging MP:0010768 10.23 ATRX AURKA CCND1 CTNNB1 GFAP IGF1R
6 homeostasis/metabolism MP:0005376 10.22 CCND1 CTNNB1 GFAP IGF1R IGF2 LIN28A
7 embryo MP:0005380 10.21 ATRX AURKA CTNNB1 IGF1R IGF2 LIN28A
8 hematopoietic system MP:0005397 10.19 AURKA CCND1 CTNNB1 IGF1R IGF2 SMARCA4
9 digestive/alimentary MP:0005381 10.17 CCND1 CTNNB1 GFAP IGF1R IGF2 SMARCA4
10 immune system MP:0005387 10.16 CCND1 CTNNB1 GFAP IGF1R IGF2 SMARCA4
11 nervous system MP:0003631 10.15 ATRX CCND1 CTNNB1 GFAP IGF1R IGF2
12 craniofacial MP:0005382 10.12 CCND1 CTNNB1 IGF1R IGF2 SMARCA4 SPP1
13 muscle MP:0005369 10.09 CTNNB1 GFAP IGF1R IGF2 LIN28A SMARCA4
14 integument MP:0010771 10.04 CCND1 CTNNB1 IGF1R IGF2 SMARCA4 SPP1
15 liver/biliary system MP:0005370 10.02 CTNNB1 IGF1R IGF2 SMARCA4 SMARCB1 SPP1
16 neoplasm MP:0002006 10.01 AURKA CCND1 CTNNB1 IGF1R SMARCA4 SMARCB1
17 reproductive system MP:0005389 9.91 ATRX CCND1 CTNNB1 IGF1R IGF2 LIN28A
18 normal MP:0002873 9.87 CCND1 CTNNB1 GFAP LIN28A SMARCA4 SYP
19 respiratory system MP:0005388 9.7 CCND1 CTNNB1 IGF1R IGF2 SMARCA4 SPP1
20 skeleton MP:0005390 9.56 CCND1 CTNNB1 IGF1R IGF2 LIN28A SMARCA4
21 vision/eye MP:0005391 9.23 ATRX CCND1 CTNNB1 GFAP IGF2 SMARCA4

Drugs & Therapeutics for Atypical Teratoid Rhabdoid Tumor

Drugs for Atypical Teratoid Rhabdoid Tumor (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 182)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carboplatin Approved Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable 41575-94-4 38904 10339178 498142
2
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1 6055-19-2, 50-18-0 2907
3
Melphalan Approved Phase 2, Phase 3,Phase 1,Not Applicable 148-82-3 460612 4053
4
Etoposide Approved Phase 2, Phase 3,Phase 3,Phase 1,Early Phase 1,Not Applicable 33419-42-0 36462
5
Thiotepa Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable 52-24-4 5453
6
leucovorin Approved Phase 3,Phase 2,Phase 1,Early Phase 1 58-05-9 6006 143
7
Temozolomide Approved, Investigational Phase 3,Phase 2,Phase 1 85622-93-1 5394
8
Cisplatin Approved Phase 3,Phase 2,Phase 1 15663-27-1 441203 84093 2767
9
Lenograstim Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 135968-09-1
10
Vincristine Approved, Investigational Phase 3,Phase 2,Phase 1 2068-78-2, 57-22-7 5978
11
Methotrexate Approved Phase 3,Phase 2,Phase 1,Early Phase 1 1959-05-2, 59-05-2 126941
12
Sulfamethoxazole Approved Phase 3 723-46-6 5329
13
Doxorubicin Approved, Investigational Phase 3,Phase 2 23214-92-8 31703
14
Trimethoprim Approved, Vet_approved Phase 3 738-70-5 5578
15
Sargramostim Approved, Investigational Phase 3,Phase 1,Not Applicable 123774-72-1, 83869-56-1
16
Dactinomycin Approved, Investigational Phase 3,Phase 2 50-76-0 457193 2019
17
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
18
Levoleucovorin Approved, Investigational Phase 3,Phase 2,Early Phase 1 68538-85-2
19
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2,Phase 1,Early Phase 1 59-30-3 6037
20
Calcium Approved, Nutraceutical Phase 3,Phase 2 7440-70-2 271
21
Doxil Approved June 1999 Phase 3,Phase 2 31703
22 Pancreatic Polypeptide Investigational Phase 3 59763-91-6
23
Emodepside Investigational, Vet_approved Phase 3 155030-63-0
24 Etoposide phosphate Phase 2, Phase 3,Phase 3,Phase 1,Early Phase 1,Not Applicable
25 Antirheumatic Agents Phase 3,Phase 2,Phase 1,Early Phase 1
26 Folic Acid Antagonists Phase 3,Phase 2,Phase 1,Early Phase 1
27 Antineoplastic Agents, Phytogenic Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
28 Dermatologic Agents Phase 3,Phase 2,Phase 1,Early Phase 1
29 Antimitotic Agents Phase 3,Phase 2,Phase 1,Not Applicable
30 Alkylating Agents Phase 3,Phase 2,Phase 1,Not Applicable
31 Antimetabolites, Antineoplastic Phase 3,Phase 2,Phase 1,Early Phase 1
32 Immunologic Factors Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
33 Nucleic Acid Synthesis Inhibitors Phase 3,Phase 2,Phase 1,Early Phase 1
34 Topoisomerase Inhibitors Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
35 Vitamin B9 Phase 3,Phase 2,Phase 1,Early Phase 1
36 Folate Phase 3,Phase 2,Phase 1,Early Phase 1
37 Immunosuppressive Agents Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
38 Antimetabolites Phase 3,Phase 2,Phase 1,Early Phase 1
39 Vitamin B Complex Phase 3,Phase 2,Phase 1,Early Phase 1
40 Antineoplastic Agents, Alkylating Phase 3,Phase 2,Phase 1,Not Applicable
41 Adjuvants, Immunologic Phase 3,Phase 2,Phase 1,Not Applicable
42 Protective Agents Phase 3,Phase 2,Phase 1,Not Applicable
43 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1
44 Anti-Infective Agents Phase 3,Phase 2,Phase 1
45 Antibiotics, Antitubercular Phase 3,Phase 2,Phase 1
46 Anesthetics, General Phase 3
47 Analgesics Phase 3
48 Liver Extracts Phase 3,Phase 1,Phase 2,Not Applicable
49 Adjuvants, Anesthesia Phase 3
50 Narcotics Phase 3

Interventional clinical trials:

(show top 50) (show all 93)
# 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 and Surgery in Treating Young Patients With Wilms Tumor Completed NCT00945009 Phase 3 Doxorubicin Hydrochloride;Vincristine Sulfate
5 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
6 Fentanyl Sublingual Spray in Treating Patients With Breakthrough Cancer Pain Completed NCT00538850 Phase 3 Fentanyl sublingual spray;Placebo
7 Combination Chemotherapy Alone or With Radiation Therapy in Treating Children With Kidney Cancer Completed NCT00002611 Phase 3 cyclophosphamide;doxorubicin hydrochloride;etoposide;vincristine sulfate
8 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
9 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 Carboplatin;Cisplatin;Cyclophosphamide;Etoposide;Leucovorin Calcium;Methotrexate;Thiotepa;Vincristine Sulfate
10 Oxaliplatin in Treating Children With Recurrent or Refractory Medulloblastoma, Supratentorial Primitive Neuroectodermal Tumor, or Atypical Teratoid Rhabdoid Tumor Completed NCT00047177 Phase 2 Oxaliplatin
11 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
12 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
13 Chemotherapy in Treating Patients With Solid Tumors Completed NCT00003103 Phase 1, Phase 2 docetaxel
14 Phase 2 Study of Alisertib Therapy for Rhabdoid Tumors Recruiting NCT02114229 Phase 2 alisertib;methotrexate;cisplatin;carboplatin;cyclophosphamide;etoposide;topotecan;vincristine
15 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
16 Stereotactic Body Radiotherapy (SBRT) for Pulmonary Metastases in Ewing Sarcoma, Rhabdomyosarcoma, and Wilms Tumors Recruiting NCT02581384 Phase 1, Phase 2
17 Tazemetostat Rollover Study (TRuST): An Open-Label Rollover Study Recruiting NCT02875548 Phase 2 Tazemetostat
18 Targeted Therapy Directed by Genetic Testing in Treating Pediatric Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphomas, or Histiocytic Disorders (The Pediatric MATCH Screening Trial) Recruiting NCT03155620 Phase 2 Ensartinib;Erdafitinib;Larotrectinib;Olaparib;Palbociclib;PI3K/mTOR Inhibitor LY3023414;Selumetinib Sulfate;Tazemetostat;Ulixertinib;Vemurafenib
19 Phase II Study of Intraventricular Methotrexate in Children With Recurrent or Progressive Malignant Brain Tumors Recruiting NCT02684071 Phase 2 Intra thecal methotrexate;topotecan;cyclophosphamide
20 Ulixertinib in Treating Patients With Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With MAPK Pathway Mutations (A Pediatric MATCH Treatment Trial) Recruiting NCT03698994 Phase 2 Ulixertinib
21 Palbociclib in Treating Patients With Relapsed or Refractory Rb Positive Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With Activating Alterations in Cell Cycle Genes (A Pediatric MATCH Treatment Trial) Recruiting NCT03526250 Phase 2 Palbociclib
22 Olaparib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With Defects in DNA Damage Repair Genes (A Pediatric MATCH Treatment Trial) Recruiting NCT03233204 Phase 2 Olaparib
23 Vemurafenib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With BRAF V600 Mutations (A Pediatric MATCH Treatment Trial) Recruiting NCT03220035 Phase 2 Vemurafenib
24 Larotrectinib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With NTRK Fusions (A Pediatric MATCH Treatment Trial) Recruiting NCT03213704 Phase 2 Larotrectinib
25 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 (A Pediatric MATCH Treatment Trial) Recruiting NCT03213678 Phase 2 PI3K/mTOR Inhibitor LY3023414
26 Erdafitinib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With FGFR Mutations (A Pediatric MATCH Treatment Trial) Recruiting NCT03210714 Phase 2 Erdafitinib
27 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
28 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 Active, not recruiting NCT02541604 Phase 1, Phase 2 Atezolizumab
29 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
30 Iodine I 131 Monoclonal Antibody 3F8 in Treating Patients With Central Nervous System Cancer or Leptomeningeal Cancer Active, not recruiting NCT00445965 Phase 2
31 Tazemetostat in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With EZH2, SMARCB1, or SMARCA4 Gene Mutations (A Pediatric MATCH Treatment Trial) Suspended NCT03213665 Phase 2 Tazemetostat
32 Melphalan, Carboplatin, Mannitol, and Sodium Thiosulfate in Treating Patients With Recurrent or Progressive CNS Embryonal or Germ Cell Tumors Suspended NCT00983398 Phase 1, Phase 2 Carboplatin;Mannitol;Melphalan;Sodium Thiosulfate
33 Antineoplaston Therapy in Treating Children With Rhabdoid Tumor of the Central Nervous System Terminated NCT00003469 Phase 2 Antineoplaston therapy (Atengenal + Astugenal)
34 Methotrexate Infusion Into Fourth Ventricle in Children With Recurrent Malignant Fourth Ventricular Brain Tumors Completed NCT02458339 Phase 1 Methotrexate
35 Vorinostat and Temozolomide in Treating Young Patients With Relapsed or Refractory Primary Brain Tumors or Spinal Cord Tumors Completed NCT01076530 Phase 1 vorinostat;temozolomide
36 ABT-888 and Temozolomide in Treating Young Patients With Recurrent or Refractory CNS Tumors Completed NCT00946335 Phase 1 veliparib;temozolomide
37 AZD2171 in Treating Young Patients With Recurrent, Progressive, or Refractory Primary CNS Tumors Completed NCT00326664 Phase 1 Cediranib Maleate
38 Lenalidomide in Treating Young Patients With Recurrent, Progressive, or Refractory CNS Tumors Completed NCT00100880 Phase 1 lenalidomide
39 Vorinostat With or Without Isotretinoin in Treating Young Patients With Recurrent or Refractory Solid Tumors, Lymphoma, or Leukemia Completed NCT00217412 Phase 1 vorinostat;isotretinoin
40 Thalidomide and Docetaxel in Treating Patients With Advanced Cancer Completed NCT00049296 Phase 1 docetaxel;thalidomide
41 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
42 Temozolomide, Vincristine, and Irinotecan in Treating Young Patients With Refractory Solid Tumors Completed NCT00138216 Phase 1 irinotecan hydrochloride;temozolomide;vincristine sulfate
43 Peripheral Stem Cell Transplantation Plus Chemotherapy in Treating Patients With Malignant Solid Tumors Completed NCT00007813 Phase 1 carboplatin;cyclophosphamide;etoposide
44 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
45 Chemotherapy and Stem Cell Transplantation in Treating Children With Central Nervous System Cancer Completed NCT00053118 Phase 1 carboplatin;etoposide
46 SCH 66336 in Treating Children With Recurrent or Progressive Brain Tumors Completed NCT00015899 Phase 1 lonafarnib
47 p28 in Treating Younger Patients With Recurrent or Progressive Central Nervous System Tumors Completed NCT01975116 Phase 1 azurin-derived cell-penetrating peptide p28
48 Modified Measles Virus (MV-NIS) for Children and Young Adults With Recurrent Medulloblastoma or Recurrent ATRT Recruiting NCT02962167 Phase 1
49 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
50 SJDAWN: St. Jude Children's Research Hospital Phase 1 Study Evaluating Molecularly-Driven Doublet Therapies for Children and Young Adults With Recurrent Brain Tumors Recruiting NCT03434262 Phase 1 Gemcitabine;ribociclib;sonidegib;trametinib

Search NIH Clinical Center for Atypical Teratoid Rhabdoid Tumor

Genetic Tests for Atypical Teratoid Rhabdoid Tumor

Anatomical Context for Atypical Teratoid Rhabdoid Tumor

MalaCards organs/tissues related to Atypical Teratoid Rhabdoid Tumor:

42
Brain, Spinal Cord, Kidney, Pineal, Cerebellum, Skeletal Muscle, T Cells

Publications for Atypical Teratoid Rhabdoid Tumor

Articles related to Atypical Teratoid Rhabdoid Tumor:

(show top 50) (show all 253)
# Title Authors Year
1
Second rhabdoid tumor 8 years after treatment of atypical teratoid/rhabdoid tumor in a child with germline SMARCB1 mutation. ( 30393974 )
2019
2
Comprehensive Analysis of Chromatin States in Atypical Teratoid/Rhabdoid Tumor Identifies Diverging Roles for SWI/SNF and Polycomb in Gene Regulation. ( 30595504 )
2019
3
Atypical teratoid rhabdoid tumor mimicking type II neurofibromatosis: A case report. ( 30702605 )
2019
4
Human Pluripotent Stem Cell-Derived Tumor Model Uncovers the Embryonic Stem Cell Signature as a Key Driver in Atypical Teratoid/Rhabdoid Tumor. ( 30840885 )
2019
5
Co-occurrence of schwannomatosis and rhabdoid tumor predisposition syndrome 1. ( 29779243 )
2018
6
Primary diffuse leptomeningeal atypical teratoid/rhabdoid tumor diagnosed by cerebrospinal fluid cytology: Case report with molecular genetic analysis. ( 29339179 )
2018
7
Atypical teratoid rhabdoid tumor in a 65-year-old man presenting with disseminated leptomeningeal disease: A case report and review of the literature. ( 29785266 )
2018
8
TLE1 Expression in Malignant Rhabdoid Tumor and Atypical Teratoid/Rhabdoid Tumor. ( 29490565 )
2018
9
Malignant progression of a peripheral nerve sheath tumor in the setting of rhabdoid tumor predisposition syndrome. ( 29512865 )
2018
10
Dumbbell-shaped atypical teratoid rhabdoid tumor in the cervical spine mimicking schwannoma. ( 29018929 )
2018
11
Atypical teratoid/rhabdoid tumor of the sellar region in adult women: Is it a sex-related disease? ( 29248378 )
2018
12
Atypical Teratoid Rhabdoid Tumor of the Cauda Equina in a Child: Report of a Very Unusual Case. ( 29346182 )
2018
13
Atypical Teratoid/Rhabdoid Tumor of the Spinal Cord in a Child: Case Report and Comprehensive Review of the Literature. ( 29788028 )
2018
14
Atypical teratoid/rhabdoid tumor after in-vitro fertilization: illustrative case report and systematic literature review. ( 29452330 )
2018
15
Magnetic resonance imaging surrogates of molecular subgroups in atypical teratoid/rhabdoid tumor. ( 30010851 )
2018
16
Pediatric Suprasellar Atypical Teratoid Rhabdoid Tumor Arising from the Third Ventricle: A Rare Tumor at a Very Rare Location. ( 30283571 )
2018
17
Sellar Atypical Teratoid/Rhabdoid Tumor Presenting with Subarachnoid and Intraventricular Hemorrhage. ( 30404057 )
2018
18
Spontaneous Regression of Atypical Teratoid Rhabdoid Tumor Without Therapy in a Patient With Uncommon Regional Inactivation of SMARCB1 ( hSNF5/INI1). ( 30470167 )
2018
19
Overall Survival of Primary Intracranial Atypical Teratoid Rhabdoid Tumor Following Multimodal Treatment: A Pooled Analysis of Individual Patient Data. ( 30535934 )
2018
20
A Systematic Review of Atypical Teratoid Rhabdoid Tumor in Adults. ( 30547013 )
2018
21
Atypical teratoid/rhabdoid tumor with retained INI1 (SMARCB1) expression and loss of BRG1 (SMARCA4). ( 29271065 )
2017
22
Atypical Teratoid/ Rhabdoid Tumor of Brain: a Clinicopathologic Study of Eleven Patients and Review of Literature ( 28545192 )
2017
23
Targeting Polo-like kinase 1 in SMARCB1 deleted atypical teratoid rhabdoid tumor. ( 29228610 )
2017
24
Repositioning disulfiram as a radiosensitizer against atypical teratoid/rhabdoid tumor. ( 28340172 )
2017
25
Ewing Sarcoma and Atypical Teratoid Rhabdoid Tumor. ( 28382842 )
2017
26
Correction: Frequent Overexpression of HMGA2 in Human Atypical Teratoid/Rhabdoid Tumor and Its Correlation with let-7a3/let-7b miRNA. ( 28620002 )
2017
27
Atypical Teratoid Rhabdoid Tumor: Two Case Reports and an Analysis of Adult Cases with Implications for Pathophysiology and Treatment. ( 28676785 )
2017
28
Deep intronic hotspot variant explaining rhabdoid tumor predisposition syndrome in two patients with atypical teratoid and rhabdoid tumor. ( 28722703 )
2017
29
Atypical teratoid/rhabdoid tumor of lumbar spine in a toddler child. ( 28503314 )
2017
30
Sustained Complete Response to Metronomic Chemotherapy in a Child with Refractory Atypical Teratoid Rhabdoid Tumor: A Case Report. ( 29163174 )
2017
31
Synchronous Central Nervous System Atypical Teratoid/ Rhabdoid Tumor and Malignant Rhabdoid Tumor of the Kidney: Case report of a Long-Term Survivor and Review of the Literature. ( 29223518 )
2017
32
Non-Malignant Cerebrospinal Fluid Ascites in a Patient with Atypical Teratoid Rhabdoid Tumor. ( 28365696 )
2017
33
Loss of CDKN1C in a Recurrent Atypical Teratoid/Rhabdoid Tumor. ( 28731921 )
2017
34
Molecular Transition of an Adult Low-Grade Brain Tumor to an Atypical Teratoid/Rhabdoid Tumor Over a Time-Course of 14 Years. ( 28789476 )
2017
35
Multifocal atypical teratoid rhabdoid tumor of the central nervous system in an adult patient. ( 29150125 )
2017
36
Atypical teratoid rhabdoid tumor of the central nervous system: Case series from a regional Tertiary Care Cancer Centre in South India. ( 29237968 )
2017
37
Sellar Atypical Teratoid/Rhabdoid Tumor (AT/RT): A Clinicopathologically and Genetically Distinct Variant of AT/RT. ( 28338502 )
2017
38
Suprasellar atypical teratoid/rhabdoid tumor. ( 28454722 )
2017
39
LIN28A, a sensitive immunohistochemical marker for Embryonal Tumor with Multilayered Rosettes (ETMR), is also positive in a subset of Atypical Teratoid/Rhabdoid Tumor (AT/RT). ( 28744687 )
2017
40
Multimodal treatments combined with gamma knife surgery for primary atypical teratoid/rhabdoid tumor of the central nervous system: a single-institute experience of 18 patients. ( 29218405 )
2017
41
Development of an Atypical Teratoid Rhabdoid Tumor in a Meningioma. ( 28459167 )
2017
42
A Diagnostic Pitfall: Atypical Teratoid Rhabdoid Tumor Versus Dedifferentiated/Poorly Differentiated Chordoma: Analysis of a Mono-institutional Series. ( 28777153 )
2017
43
Primary atypical teratoid rhabdoid tumor in the adult spine. ( 28458948 )
2017
44
Cancer Surveillance in Gorlin Syndrome and Rhabdoid Tumor Predisposition Syndrome. ( 28620006 )
2017
45
Pituitary atypical teratoid rhabdoid tumor in a patient with prolactinoma: A unique description. ( 29110337 )
2017
46
Suboccipital Extraspinal Extracranial Atypical Teratoid Rhabdoid Tumor. ( 28694650 )
2017
47
Cytologic diagnosis of atypical teratoid rhabdoid tumor based on touch imprint study: Report of a case with review of literature. ( 28616426 )
2017
48
Atypical teratoid rhabdoid tumor arising in a pleomorphic xanthoastrocytoma: a rare entity. ( 28502320 )
2017
49
Atypical teratoid rhabdoid tumor in the first year of life: the Canadian ATRT registry experience and review of the literature. ( 28102486 )
2017
50
Concurrent myeloid sarcoma, atypical teratoid/rhabdoid tumor, and hypereosinophilia in an infant with a germline SMARCB1 mutation. ( 28111898 )
2017

Variations for Atypical Teratoid Rhabdoid Tumor

ClinVar genetic disease variations for Atypical Teratoid Rhabdoid Tumor:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ALK NM_004304.4(ALK): c.1582G> A (p.Ala528Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 29318369: 29318369
2 ALK NM_004304.4(ALK): c.1582G> A (p.Ala528Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 29541235: 29541235
3 BRCA2 NM_000059.3(BRCA2): c.9503_9506delATATinsTAAG (p.Asn3168_Ile3169delinsIleSer) indel Uncertain significance GRCh38 Chromosome 13, 32396899: 32396902
4 BRCA2 NM_000059.3(BRCA2): c.9503_9506delATATinsTAAG (p.Asn3168_Ile3169delinsIleSer) indel Uncertain significance GRCh37 Chromosome 13, 32971036: 32971039

Expression for Atypical Teratoid Rhabdoid Tumor

Search GEO for disease gene expression data for Atypical Teratoid Rhabdoid Tumor.

Pathways for Atypical Teratoid Rhabdoid Tumor

Pathways related to Atypical Teratoid Rhabdoid Tumor according to GeneCards Suite gene sharing:

(show all 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.63 CCND1 CTNNB1 IGF1R IGF2 SPP1 TP53
2 12.53 CCND1 CTNNB1 IGF1R IGF2 TP53
3 12.32 AURKA CCND1 SMARCA4 TP53
4 12.24 CCND1 CTNNB1 SMARCA4 TP53
5 12.18 ATRX HMGA2 SMARCA4 SMARCB1
6
Show member pathways
12.14 CCND1 IGF1R IGF2 TP53
7 11.96 CCND1 CTNNB1 IGF1R IGF2 TP53
8 11.9 SMARCA4 SPP1 TP53
9 11.85 CCND1 GFAP TP53
10
Show member pathways
11.83 CCND1 CTNNB1 IGF1R IGF2 SMARCA4 SMARCB1
11 11.82 CCND1 CTNNB1 TP53
12 11.81 CCND1 CTNNB1 TP53
13
Show member pathways
11.8 CCND1 CTNNB1 SMARCA4 TP53
14 11.74 AURKA CCND1 CTNNB1 SMARCA4 TP53
15
Show member pathways
11.62 SMARCA4 SMARCB1 TP53
16 11.58 GFAP SMARCA4 SYP
17 11.57 CCND1 CTNNB1 SMARCA4
18
Show member pathways
11.45 CCND1 SMARCA4 SMARCB1
19 11.4 CCND1 CTNNB1 IGF1R IGF2 TP53
20 11.36 IGF1R IGF2 SPP1
21 10.64 HOTAIR TP53

GO Terms for Atypical Teratoid Rhabdoid Tumor

Cellular components related to Atypical Teratoid Rhabdoid Tumor according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 SWI/SNF complex GO:0016514 9.26 SMARCA4 SMARCB1
2 condensed nuclear chromosome, centromeric region GO:0000780 9.16 ATRX AURKA
3 nBAF complex GO:0071565 8.96 SMARCA4 SMARCB1
4 npBAF complex GO:0071564 8.62 SMARCA4 SMARCB1

Biological processes related to Atypical Teratoid Rhabdoid Tumor according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 9.92 AURKA CCND1 HMGA2 SMARCB1 TP53
2 positive regulation of transcription, DNA-templated GO:0045893 9.91 CTNNB1 HMGA2 SMARCA4 SPP1 TP53
3 regulation of transcription, DNA-templated GO:0006355 9.91 ATRX CTNNB1 HMGA2 IGF2 LIN28A SMARCA4
4 chromatin organization GO:0006325 9.87 ATRX HMGA2 SMARCA4 SMARCB1
5 negative regulation of apoptotic process GO:0043066 9.85 AURKA CTNNB1 HMGA2 IGF1R TP53
6 positive regulation of DNA-binding transcription factor activity GO:0051091 9.72 CTNNB1 SMARCA4 SMARCB1
7 chromatin remodeling GO:0006338 9.67 ATRX SMARCA4 SMARCB1
8 negative regulation of transcription by RNA polymerase II GO:0000122 9.63 CCND1 CTNNB1 HMGA2 IGF2 SMARCA4 TP53
9 nucleosome disassembly GO:0006337 9.58 SMARCA4 SMARCB1
10 positive regulation by host of viral transcription GO:0043923 9.58 SMARCA4 SMARCB1
11 DNA damage response, signal transduction by p53 class mediator GO:0030330 9.56 ATRX TP53
12 anterior/posterior axis specification GO:0009948 9.54 AURKA CTNNB1
13 positive regulation of transcription by RNA polymerase II GO:0045944 9.5 ATRX CTNNB1 HMGA2 IGF2 SMARCA4 SMARCB1
14 positive regulation of transcription of nucleolar large rRNA by RNA polymerase I GO:1901838 9.48 SMARCA4 SMARCB1
15 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:1903800 9.43 LIN28A TP53
16 RNA polymerase I preinitiation complex assembly GO:0001188 9.4 SMARCA4 SMARCB1
17 mitotic G1 DNA damage checkpoint GO:0031571 9.32 CCND1 TP53
18 meiotic spindle organization GO:0000212 9.26 ATRX AURKA
19 positive regulation of glucose mediated signaling pathway GO:1902661 8.62 SMARCA4 SMARCB1

Molecular functions related to Atypical Teratoid Rhabdoid Tumor according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II distal enhancer sequence-specific DNA binding GO:0000980 9.58 SMARCA4 SMARCB1 TP53
2 Tat protein binding GO:0030957 9.37 SMARCA4 SMARCB1
3 p53 binding GO:0002039 9.33 SMARCA4 SMARCB1 TP53
4 RNA polymerase I CORE element sequence-specific DNA binding GO:0001164 9.32 SMARCA4 SMARCB1
5 nucleosomal DNA binding GO:0031492 9.13 HMGA2 SMARCA4 SMARCB1
6 transcription factor binding GO:0008134 9.02 CCND1 CTNNB1 HMGA2 SMARCA4 TP53
7 protein binding GO:0005515 10.1 ATRX AURKA CCND1 CTNNB1 GFAP HMGA2

Sources for Atypical Teratoid Rhabdoid Tumor

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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