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Choroid plexus carcinoma(CPC)

MedGen UID:
96557
Concept ID:
C0431109
Neoplastic Process
Synonym: CPC
SNOMED CT: Choroid plexus papilloma, malignant (88252006); Choroid plexus papilloma, anaplastic (88252006); Choroid plexus carcinoma (88252006); Choroid plexus carcinoma (1156471001)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
HPO: HP:0030392
Monarch Initiative: MONDO:0016718
OMIM®: 191170; 260500
Orphanet: ORPHA251899

Definition

Intraventricular papillary neoplasm derived from choroid plexus epithelium. Plexus tumors are most common in the lateral and fourth ventricles; while 80% of lateral ventricle tumors present in children, fourth ventricle tumors are evenly distributed in all age groups. Clinically, choroid plexus tumors tend to cause hydrocephalus and increased intracranial pressure. Histologically, choroid plexus papillomas correspond to WHO grade I, choroid plexus carcinomas to WHO grade III. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVChoroid plexus carcinoma
Follow this link to review classifications for Choroid plexus carcinoma in Orphanet.

Conditions with this feature

Rhabdoid tumor predisposition syndrome 1
MedGen UID:
322892
Concept ID:
C1836327
Disease or Syndrome
The rhabdoid tumor predisposition syndrome is an autosomal dominant cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumors (Sevenet et al., 1999). Rhabdoid tumors are a highly malignant group of neoplasms that usually occur in children less than 2 years of age. Malignant rhabdoid tumors (MRTs) of the kidney were first described as a sarcomatous variant of Wilms tumors (Beckwith and Palmer, 1978). Later, extrarenal rhabdoid tumor was reported in numerous locations, including the central nervous system (CNS) (Parham et al., 1994). Classification has been difficult because of considerable variation in the histologic and immunologic characteristics within and between rhabdoid tumors of the liver, soft tissues, and CNS. In the CNS, rhabdoid tumors may be pure rhabdoid tumors or a variant that has been designated atypical teratoid tumor (AT/RT). Genetic Heterogeneity of Rhabdoid Tumor Predisposition Syndrome See also RTPS2 (613325), caused by germline mutation in the SMARCA4 gene (603254) on chromosome 19p13.
Adrenocortical carcinoma, hereditary
MedGen UID:
348508
Concept ID:
C1859972
Neoplastic Process
Adrenocortical carcinoma (ADCC) is a rare but aggressive childhood tumor, representing about 0.4% of childhood tumors, with a high incidence of associated tumors. ADCC occurs with increased frequency in patients with the Beckwith-Wiedemann syndrome (130650) and is a component tumor in Li-Fraumeni syndrome (LFS; 151623).

Professional guidelines

PubMed

Thomas C, Metrock K, Kordes U, Hasselblatt M, Dhall G
J Neurooncol 2020 May;148(1):39-45. Epub 2020 Apr 28 doi: 10.1007/s11060-020-03509-5. PMID: 32342334Free PMC Article
Hosmann A, Hinker F, Dorfer C, Slavc I, Haberler C, Dieckmann K, Knosp E, Czech T
Acta Neurochir (Wien) 2019 Apr;161(4):745-754. Epub 2019 Feb 19 doi: 10.1007/s00701-019-03832-5. PMID: 30783805Free PMC Article
Sun MZ, Oh MC, Ivan ME, Kaur G, Safaee M, Kim JM, Phillips JJ, Auguste KI, Parsa AT
Neurosurg Rev 2014 Apr;37(2):179-92; discussion 192. Epub 2013 Sep 26 doi: 10.1007/s10143-013-0499-1. PMID: 24068529

Recent clinical studies

Therapy

Que Y, Wang J, Sun F, Wang S, Zhu J, Huang J, Zhao Z, Zhang L, Liu J, Xu J, Zhen Z, Sun X, Lu S, Zhang Y
Signal Transduct Target Ther 2023 Oct 13;8(1):392. doi: 10.1038/s41392-023-01636-9. PMID: 37828033Free PMC Article
Wolff JE, Van Gool SW, Kutluk T, Diez B, Kebudi R, Timmermann B, Garami M, Sterba J, Fuller GN, Bison B, Kordes UR
J Neurooncol 2022 Feb;156(3):599-613. Epub 2022 Jan 8 doi: 10.1007/s11060-021-03942-0. PMID: 34997889Free PMC Article
Mallick S, Benson R, Melgandi W, Rath GK
Int J Radiat Oncol Biol Phys 2017 Dec 1;99(5):1199-1206. Epub 2017 Aug 18 doi: 10.1016/j.ijrobp.2017.08.012. PMID: 28939225
Zaky W, Dhall G, Khatua S, Brown RJ, Ginn KF, Gardner SL, Yildiz VO, Yankelevich M, Finlay JL
Pediatr Blood Cancer 2015 May;62(5):784-9. Epub 2015 Feb 8 doi: 10.1002/pbc.25436. PMID: 25662896
Greenberg ML
Childs Nerv Syst 1999 Oct;15(10):571-7. doi: 10.1007/s003810050545. PMID: 10550588

Prognosis

Hesham D, On J, Alshahaby N, Amer N, Magdeldin S, Okada M, Tsukamoto Y, Hiraishi T, Imai C, Okuda S, Wakai T, Kakita A, Oishi M, El-Naggar S, Natsumeda M
J Neurooncol 2024 Jan;166(1):27-38. Epub 2024 Jan 8 doi: 10.1007/s11060-023-04484-3. PMID: 38190092
Hart S, Avery R, Barron J
Childs Nerv Syst 2020 Aug;36(8):1601-1606. Epub 2020 May 15 doi: 10.1007/s00381-020-04663-x. PMID: 32409961
Thomas C, Metrock K, Kordes U, Hasselblatt M, Dhall G
J Neurooncol 2020 May;148(1):39-45. Epub 2020 Apr 28 doi: 10.1007/s11060-020-03509-5. PMID: 32342334Free PMC Article
Zaky W, Finlay JL
Pediatr Blood Cancer 2018 Jul;65(7):e27031. Epub 2018 Mar 12 doi: 10.1002/pbc.27031. PMID: 29528196
Gopal P, Parker JR, Debski R, Parker JC Jr
Arch Pathol Lab Med 2008 Aug;132(8):1350-4. doi: 10.5858/2008-132-1350-CPC. PMID: 18684041

Clinical prediction guides

Hesham D, On J, Alshahaby N, Amer N, Magdeldin S, Okada M, Tsukamoto Y, Hiraishi T, Imai C, Okuda S, Wakai T, Kakita A, Oishi M, El-Naggar S, Natsumeda M
J Neurooncol 2024 Jan;166(1):27-38. Epub 2024 Jan 8 doi: 10.1007/s11060-023-04484-3. PMID: 38190092
Patil P, Pencheva BB, Patil VM, Fangusaro J
Neurotherapeutics 2022 Oct;19(6):1752-1771. Epub 2022 Sep 2 doi: 10.1007/s13311-022-01277-w. PMID: 36056180Free PMC Article
Chen Y, Zhao R, Shi W, Li H
Clin Neurol Neurosurg 2021 Jan;200:106345. Epub 2020 Nov 4 doi: 10.1016/j.clineuro.2020.106345. PMID: 33203591
Ruiz-Garcia H, Huayllani MT, Incontri D, Whaley JJ, Marenco-Hillembrand L, Ebot J, Chaichana KL, Sheehan J, Quiñones-Hinojosa A, Trifiletti DM
J Neurooncol 2020 Sep;149(2):283-292. Epub 2020 Sep 8 doi: 10.1007/s11060-020-03603-8. PMID: 32897467
Cannon DM, Mohindra P, Gondi V, Kruser TJ, Kozak KR
J Neurooncol 2015 Jan;121(1):151-7. Epub 2014 Oct 1 doi: 10.1007/s11060-014-1616-x. PMID: 25270349

Recent systematic reviews

Mallick S, Benson R, Melgandi W, Rath GK
Int J Radiat Oncol Biol Phys 2017 Dec 1;99(5):1199-1206. Epub 2017 Aug 18 doi: 10.1016/j.ijrobp.2017.08.012. PMID: 28939225

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