Details of Disease

General Information of Disease (ID: DISQ04MQ)

Disease Name	Choroid plexus carcinoma
Synonyms	malignant tumor of choroid plexus; choroid plexus cancer; cancer of the choroid plexus; malignant neoplasm of choroid plexus; malignant neoplasm of the choroid plexus; cancer of choroid plexus; malignant tumour of choroid plexus; choroid plexus carcinoma (morphologic abnormality); carcinoma, choroid plexus, malignant; carcinoma of choroid plexus; carcinoma of the choroid plexus; choroid plexus carcinoma; anaplastic choroid plexus papilloma
Disease Class	2A02: Spinal cord/cranial nerve neoplasm
Definition	A malignant neoplasm arising from the choroid plexus. It shows anaplastic features and usually invades neighboring brain structures. Cerebrospinal fluid metastases are frequent. (Adapted from WHO)
Disease Hierarchy	DISTHJ6I: Choroid plexus cancer DISH9F1N: Carcinoma DISQ04MQ: Choroid plexus carcinoma
ICD Code	ICD-11 ICD-11: 2A02.12 Expand ICD-11 'XH3M77
Disease Identifiers	MONDO ID MONDO_0016718 MESH ID C562943 UMLS CUI C0431109 MedGen ID 96557 HPO ID HP:0030392 Orphanet ID 251899 SNOMED CT ID 1156471001

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

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

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TP53	TT7SBF5	Supportive	Autosomal dominant	[3]
TP53	TT12KOD	Definitive	Biomarker	[4]
------------------------------------------------------------------------------------

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RAD54L	OTEGMAKG	Limited	Biomarker	[5]
TP53	OTIE1VH3	Supportive	Autosomal dominant	[3]
MAP1LC3A	OTPMGIU4	Strong	Biomarker	[6]
PLSCR4	OT2AMYLY	Strong	Biomarker	[7]
SMARCB1	OT2LP7LJ	Strong	Biomarker	[8]
------------------------------------------------------------------------------------

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	Increased incidence of choroid plexus carcinoma due to the germline TP53 R337H mutation in southern Brazil. PLoS One. 2011 Mar 22;6(3):e18015. doi: 10.1371/journal.pone.0018015.
4	Myc and Loss of p53 Cooperate to Drive Formation of Choroid Plexus Carcinoma.Cancer Res. 2019 May 1;79(9):2208-2219. doi: 10.1158/0008-5472.CAN-18-2565. Epub 2019 Mar 18.
5	Concurrent Gain of Oncogenes Drives Choroid Plexus Carcinoma.Cancer Discov. 2015 Jul;5(7):OF26. doi: 10.1158/2159-8290.CD-RW2015-096. Epub 2015 May 21.
6	LC3A Silencing Hinders Aggresome Vimentin Cage Clearance in Primary Choroid Plexus Carcinoma.Sci Rep. 2017 Aug 14;7(1):8022. doi: 10.1038/s41598-017-07403-5.
7	DNA methylation signature is prognostic of choroid plexus tumor aggressiveness.Clin Epigenetics. 2019 Aug 13;11(1):117. doi: 10.1186/s13148-019-0708-z.
8	Choroid plexus carcinomas are characterized by complex chromosomal alterations related to patient age and prognosis.Genes Chromosomes Cancer. 2014 May;53(5):373-80. doi: 10.1002/gcc.22148. Epub 2014 Jan 30.