Choroid plexus carcinoma

Choroid plexus carcinoma is a rare and highly aggressive malignant type of choroid plexus tumor (see this term) occurring almost exclusively in children, presenting with cerebrospinal fluid obstruction in the lateral ventricles (most common), the fourth and third ventricles or in multiple ventricles, leading to hydrocephalus and increased intracranial pressure, and manifesting with nausea, vomiting, abnormal eye movements, gait impairment, seizures and enlarged head circumference.



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Total: 77 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
2
(4.0%)		 20367337
 Single-stage bilateral choroid plexectomy for choroid plexus papilloma in a patient presenting with high cerebrospinal fluid output.
Nimjee SM, Powers CJ, McLendon RE, Grant GA, Fuchs HE.
J Neurosurg Pediatr. 2010;5(4):342-5.
Hydrocephalus
Cerebrospinal Fluid Choroid Plexus Papilloma Females Homo sapiens Hydrocephalus Infant Magnetic Resonance Imaging Neurosurgical Procedures X-Ray Computed Tomography
2
(4.0%)		 20076974
 Invasive pneumococcal disease following treatment for choroid plexus carcinoma.
Jorgensen M, Bate J, Gatscher S, Chisholm JC.
Support Care Cancer. 2010;18(5):647-50.
Pneumonia
Choroid Plexus Neoplasms Empyema, Subdural Homo sapiens Immunization Infant Pneumococcal Infections Serotyping Streptococcus pneumoniae
2
(4.0%)		 20040328
 Oncocytic choroid plexus carcinoma: case report.
Sav A, Scheithauer BW, Mazzola CA, Ketterling SR, Thompson SJ, Reilly MH.
Clin Neuropathol. 2010;29(1):14-20.
Lethargy
MIB1
Brain Carcinoma Choroid Plexus Neoplasms Family Females Homo sapiens Infant Magnetic Resonance Imaging Oxyphil Cells Oxyphilic Adenoma X-Ray Computed Tomography
2
(4.0%)		 19915490
 Cribriform neuroepithelial tumor (CRINET): a nonrhabdoid ventricular tumor with INI1 loss and relatively favorable prognosis.
Hasselblatt M, Oyen F, Gesk S, Kordes U, Wrede B, Bergmann M, Schmid H, Fruhwald MC, Schneppenheim R, Siebert R, Paulus W.
J Neuropathol Exp Neurol. 2009;68(12):1249-55.
Ependymoma
SMARCB1
Antineoplastic Combined Chemotherapy Protocols Brain Neoplasms Child, Preschool Chromosomal Proteins, Non-Histone Combined Modality Therapy DNA-Binding Proteins Females Fluorescent in Situ Hybridization Homo sapiens Immunohistochemistry Infant Male Neoplasms, Neuroepithelial Neurosurgical Procedures SMARCB1 Protein
2
(4.0%)		 19834361
 Supratentorial, extraventricular choroid plexus carcinoma in an adult: case report.
Lozier AP, Arbaje YM, Scheithauer BW.
Neurosurgery. 2009;65(4):E816-7.
Aphasia
Antineoplastic Agents, Alkylating Brain Carcinoma Choroid Plexus Neoplasms Craniotomy Drug Administration Schedule Females Homo sapiens Magnetic Resonance Imaging Neurosurgical Procedures Temporal Lobe
2
(4.0%)		 19795969
 Rare intraparenchymal choroid plexus carcinoma resembling atypical teratoid/rhabdoid tumor diagnosed by immunostaining for INI1 protein.
Stevens EA, Stanton CA, Nichols K, Ellis TL.
J Neurosurg Pediatr. 2009;4(4):368-71.
Nausea and vomiting
SMARCB1
Biomarkers, Tumor Cell Nucleus Child Choroid Plexus Neoplasms Chromosomal Proteins, Non-Histone Combined Modality Therapy Craniotomy DNA-Binding Proteins Differential Diagnosis Females Homo sapiens Magnetic Resonance Imaging Rhabdoid Tumor SMARCB1 Protein Teratoma X-Ray Computed Tomography
2
(4.0%)		 19711436
 De novo germline TP53 mutation presenting with synchronous malignancies of the central nervous system.
Schniederjan MJ, Shehata B, Brat DJ, Esiashvili N, Janss AJ.
Pediatr Blood Cancer. 2009;53(7):1352-4.
Primitive neuroectodermal tumor
TP53
Antineoplastic Combined Chemotherapy Protocols Brain Neoplasms Carcinoma Choroid Plexus Neoplasms Codon, Nonsense Combined Modality Therapy Cranial Irradiation Fatal Outcome Germ-Line Mutation Homo sapiens Male Neoplasms, Multiple Primary Neoplasms, Unknown Primary Neuroectodermal Tumor, Primitive Radiotherapy, Adjuvant Spinal Neoplasms
2
(4.0%)		 19378321
 Novel oncogene amplifications in tumors from a family with Li-Fraumeni syndrome.
Rieber J, Remke M, Hartmann C, Korshunov A, Burkhardt B, Sturm D, Mechtersheimer G, Wittmann A, Greil J, Blattmann C, Witt O, Behnisch W, Halatsch ME, Orakcioglu B, von Deimling A, Lichter P, Kulozik A, Pfister S.
Genes Chromosomes Cancer. 2009;48(7):558-68.
Ependymoma
GLI2 MYCN TP53
p|SUB|R|248|W;RS#:121912651 rs121912651
Child Choroid Plexus Neoplasms Females Fluorescent in Situ Hybridization Gene Amplification Gene Dosage Germ-Line Mutation Homo sapiens Immunohistochemistry Li-Fraumeni Syndrome Loss of Heterozygosity Male Medulloblastoma Oligonucleotide Array Sequence Analysis Rhabdoid Tumor
2
(4.0%)		 19127094
 A novel TP53 germline mutation in a family with a history of multiple malignancies: case report and review of the literature.
Agarwalla PK, Dunn IF, Turner CD, Ligon KL, Schneider KA, Smith ER.
Pediatr Neurosurg. 2008;44(6):501-8.
Seizure
BRCA1 BRCA2 MLH1 MSH2 TP53
c|SUB|A||T p|SUB|N|131|I
Amino Acid Substitution Choroid Plexus Neoplasms Females Germ-Line Mutation Homo sapiens Infant Li-Fraumeni Syndrome Male Meningeal Neoplasms Sarcoma
2
(4.0%)		 18804822
 [Choroid plexus carcinoma: a case report].
Abbes K, Khabir A, Bahloul K, Boudawara MZ, Boudawara TS.
Neurochirurgie. 2009;55(3):333-6.
Hypertension
Animals Carcinoembryonic Antigen Carcinoma Cerebral Hemorrhage Child, Preschool Choroid Plexus Neoplasms Fatal Outcome Homo sapiens Intraoperative Complications X-Ray Computed Tomography
        

Phenotype(s) retrieved from Orphanet

    Total: 0

HPO ID Term Frequency


Phenotype(s) retrieved from case reports

    Total: 25

HPO ID Term # of case reports
HP:0002888 Ependymoma 7
HP:0002664 Neoplasm 4
HP:0030065 Primitive neuroectodermal tumor 4
HP:0001288 Gait disturbance 2
HP:0002861 Melanoma 2
HP:0030731 Carcinoma 2
HP:0000622 Blurred vision 1
HP:0000822 Hypertension 1
HP:0001085 Papilledema 1
HP:0001251 Ataxia 1
HP:0001260 Dysarthria 1
HP:0001269 Hemiparesis 1
HP:0001337 Tremor 1
HP:0001909 Leukemia 1
HP:0002018 Nausea 1
HP:0002385 Paraparesis 1
HP:0002863 Myelodysplasia 1
HP:0003764 Nevus 1
HP:0012740 Papilloma 1
HP:0030071 Medulloepithelioma 1
HP:0030692 Brain neoplasm 1
HP:0031925 Rosette 1
HP:0100242 Sarcoma 1
HP:0100620 Germinoma 1
HP:0100806 Sepsis 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
TP53 tumor protein p53 7157