Details of Disease

General Information of Disease (ID: DIS1FA0D)

• Disease Name: Atypical teratoid/rhabdoid tumour
• Synonyms: rhabdoid tumour predisposition syndrome; rhabdoid tumor predisposition syndrome; atypical teratoid/rhabdoid tumor (WHO grade IV); atypical teratoid/rhabdoid tumor (morphologic abnormality); malignant rhabdoid tumor of brain; ATT/RHT; CNS rhabdoid tumour; malignant rhabdoid neoplasm of brain; malignant brain rhabdoid tumour; central nervous system rhabdoid neoplasm; primary malignant rhabdoid tumor of brain; primary malignant brain rhabdoid tumour; primary malignant rhabdoid tumour of brain; central nervous system rhabdoid tumour; primary malignant brain rhabdoid neoplasm; rhabdoid neoplasm of the CNS; malignant rhabdoid tumour of the brain; atypical teratoid/rhabdoid tumor; malignant brain rhabdoid neoplasm; primary malignant rhabdoid neoplasm of brain; primary malignant brain rhabdoid tumor; primary malignant rhabdoid tumour of the brain; malignant rhabdoid tumor of the brain; atypical teratoid/rhabdoid tumour (morphologic abnormality); rhabdoid tumour of the CNS; primary malignant rhabdoid tumor of the brain; rhabdoid neoplasm of CNS; AT/RT; CNS rhabdoid tumor; rhabdoid tumor of central nervous system; atypical teratoid/rhabdoid tumour; CNS rhabdoid neoplasm; rhabdoid tumour of central nervous system; rhabdoid tumor of the central nervous system; rhabdoid tumour of CNS; rhabdoid neoplasm of the central nervous system; malignant brain rhabdoid tumor; rhabdoid neoplasm of central nervous system; rhabdoid tumor of the CNS; rhabdoid tumor of CNS; atypical teratoid/rhabdoid tumour (WHO grade IV); malignant rhabdoid tumour of brain; malignant rhabdoid neoplasm of the brain; ATRT; primary malignant rhabdoid neoplasm of the brain; rhabdoid tumour of the central nervous system; central nervous system rhabdoid tumor
• Disease Class: 2A00: Brain cancer
• Definition: Atypical teratoid rhabdoid tumor (ATRT) is a highly malignant central nervous system (CNS) rhabdoid tumor (RT) found almost exclusively in children.
• Disease Hierarchy:
  DIS46HZU: Malignant rhabdoid tumour
  DISXXOJ3: Central nervous system sarcoma
  DIS1FA0D: Atypical teratoid/rhabdoid tumour
• ICD Code:
  ICD-11: ICD-11: 2A00.1Y
  Expand ICD-11: 'XH7ZQ4
• Disease Identifiers:
  MONDO ID: MONDO_0020560
  UMLS CUI: C1266184
  MedGen ID: 226853
  HPO ID: HP:0034401
  Orphanet ID: 99966
  SNOMED CT ID: 128792003

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 2 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
EGFR806-specific CAR T cell	DM3AD65	Phase 1	CAR T Cell Therapy	[1]
HER2-specific CAR T cell	DMJKBWO	Phase 1	CAR T Cell Therapy	[2]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
LIN28A	TTO50LN	Limited	Altered Expression	[3]
RHD	TTLCKI8	Strong	Genetic Variation	[4]
CHRM3	TTQ13Z5	Definitive	Genetic Variation	[5]
CLDN6	TTKSV48	Definitive	Biomarker	[6]

This Disease Is Related to 12 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BTF3	OT5ZZFJL	Strong	Biomarker	[7]
CNN1	OTVPG39Z	Strong	Biomarker	[5]
FBXW11	OT2A6RLR	Strong	Biomarker	[4]
GPKOW	OTGS3H0M	Strong	Biomarker	[8]
PHF5A	OTS94JFM	Strong	Biomarker	[9]
PID1	OT5YJ7FI	Strong	Biomarker	[10]
PIP	OTH719AH	Strong	Biomarker	[11]
RPL5	OTM8EBRI	Strong	Biomarker	[12]
SMIM10L2B	OT04IG2N	Strong	Biomarker	[13]
SUN2	OT2IQJUC	Strong	Biomarker	[14]
TEAD4	OTJS0T2B	Strong	Altered Expression	[15]
LIN28B	OTVWP0FN	Definitive	Altered Expression	[16]

References

• [1] ClinicalTrials.gov (NCT03638167) EGFR806-specific CAR T Cell Locoregional Immunotherapy for EGFR-positive Recurrent or Refractory Pediatric CNS Tumors
• [2] ClinicalTrials.gov (NCT03500991) HER2-specific CAR T Cell Locoregional Immunotherapy for HER2-positive Recurrent/Refractory Pediatric CNS Tumors
• [3] The TORC1/2 inhibitor TAK228 sensitizes atypical teratoid rhabdoid tumors to cisplatin-induced cytotoxicity.Neuro Oncol. 2017 Oct 1;19(10):1361-1371. doi: 10.1093/neuonc/nox067.
• [4] Double-deleted vaccinia virus in virotherapy for refractory and metastatic pediatric solid tumors.Mol Oncol. 2013 Oct;7(5):944-54. doi: 10.1016/j.molonc.2013.05.004. Epub 2013 Jun 14.
• [5] Synthesis, characterization, and in vitro cytotoxicity of fatty acyl-CGKRK-chitosan oligosaccharides conjugates for siRNA delivery.Int J Biol Macromol. 2018 Jun;112:694-702. doi: 10.1016/j.ijbiomac.2018.01.213. Epub 2018 Feb 2.
• [6] Epithelioid versus rhabdoid glioblastomas are distinguished by monosomy 22 and immunohistochemical expression of INI-1 but not claudin 6.Am J Surg Pathol. 2010 Mar;34(3):341-54. doi: 10.1097/PAS.0b013e3181ce107b.
• [7] The new Greiner FC-Mix tubes equal the old Terumo ones and are useful as glucose stabilizer after prolonged storage of samples.Biochem Med (Zagreb). 2017 Oct 15;27(3):030901. doi: 10.11613/BM.2017.030901. Epub 2017 Aug 28.
• [8] Controllable synthesis of MoS(2)@MoO(2) nanonetworks for enhanced NO(2) room temperature sensing in air.Nanoscale. 2019 Apr 25;11(17):8554-8564. doi: 10.1039/c9nr00137a.
• [9] Integrated genomics has identified a new AT/RT-like yet INI1-positive brain tumor subtype among primary pediatric embryonal tumors.BMC Med Genomics. 2015 Jun 25;8:32. doi: 10.1186/s12920-015-0103-3.
• [10] PID1 increases chemotherapy-induced apoptosis in medulloblastoma and glioblastoma cells in a manner that involves NFB.Sci Rep. 2017 Apr 11;7(1):835. doi: 10.1038/s41598-017-00947-6.
• [11] Identification of a novel biomarker for pyridoxine-dependent epilepsy: Implications for newborn screening.J Inherit Metab Dis. 2019 May;42(3):565-574. doi: 10.1002/jimd.12059. Epub 2019 Mar 11.
• [12] Identification of RPL5 and RPL10 as novel diagnostic biomarkers of Atypical teratoid/rhabdoid tumors.Cancer Cell Int. 2018 Nov 20;18:190. doi: 10.1186/s12935-018-0681-1. eCollection 2018.
• [13] Influence of Quantum-Well Width on the Electroluminescence Properties of AlGaN Deep Ultraviolet Light-Emitting Diodes at Different Temperatures.Nanoscale Res Lett. 2018 Oct 23;13(1):334. doi: 10.1186/s11671-018-2756-2.
• [14] Downregulation of SUN2, a novel tumor suppressor, mediates miR-221/222-induced malignancy in central nervous system embryonal tumors.Carcinogenesis. 2014 Oct;35(10):2164-74. doi: 10.1093/carcin/bgu105. Epub 2014 May 15.
• [15] Overexpression of TEAD4 in atypical teratoid/rhabdoid tumor: New insight to the pathophysiology of an aggressive brain tumor.Pediatr Blood Cancer. 2017 Jul;64(7). doi: 10.1002/pbc.26398. Epub 2016 Dec 14.
• [16] Overexpression of Lin28b in Neural Stem Cells is Insufficient for Brain Tumor Formation, but Induces Pathological Lobulation of the Developing Cerebellum.Cerebellum. 2017 Feb;16(1):122-131. doi: 10.1007/s12311-016-0774-0.