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Choroid plexus carcinoma

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https://www.readbyqxmd.com/read/28859040/successful-treatment-of-recurrent-li-fraumeni-syndrome-related-choroid-plexus-carcinoma
#1
Matthew McEvoy, Nathan Robison, Peter Manley, Torunn Yock, Kristine Konopka, Robert E Brown, Johannes Wolff, Adam L Green
The management of choroid plexus carcinoma (CPC) is challenging and multifaceted. Here, we discuss a 3-year-old girl with CPC and Li-Fraumeni syndrome who achieved full remission after surgery and chemotherapy, with radiation therapy spared. At recurrence, we used a novel, standard-dose cytotoxic chemotherapy regimen, focal proton radiation therapy, and targeted agents based on morphoproteomic analysis to achieve long-term survival. We highlight the rationale for our therapy at recurrence, as well as the risk-benefit analyses necessary in decision making for these patients...
August 30, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28831205/phosphorylated-mtor-expression-profiles-in-human-normal-and-carcinoma-tissues
#2
Hojung Lee
Mammalian target of rapamycin (mTOR) is a key controller of cell growth and proliferation in normal tissues and solid tumors. In the present study, an immunohistochemical analysis of the expression pattern of phosphorylated mTOR (p-mTOR) was performed in human normal fetal and adult tissues and various carcinoma tissues. p-mTOR expression showed tissue and cell type specificity in normal and cancer tissues. In normal fetal and adult tissues, p-mTOR staining was observed in the intestinal crypt, intrahepatic bile ductule, pancreatic duct, distal nephron of the kidney, umbrella cell of urothelium, mesothelial cell, and choroid plexus...
2017: Disease Markers
https://www.readbyqxmd.com/read/28808307/lc3a-silencing-hinders-aggresome-vimentin-cage-clearance-in-primary-choroid-plexus-carcinoma
#3
Marwa Nassar, Heba Samaha, Myret Ghabriel, Maha Yehia, Hala Taha, Sherin Salem, Khaled Shaaban, Mariam Omar, Nabil Ahmed, Shahenda El-Naggar
Aggresomes are transient microtubule-dependent inclusion bodies that sequester misfolded proteins and are ultimately removed by autophagy. Here we report the generation of a choroid plexus carcinoma cell line; Children's Cancer Hospital Egypt (CCHE)-45, which is characterized by the constitutive formation of aggresomes. When examining the autophagy pathway as the main route for aggresomes clearance, CCHE-45 cells displayed increased autophagy flux mediated by MAP1LC3B. MAP1LC3A-Variant1 gene expression was silenced by promoter methylation...
August 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28792797/magnetic-resonance-imaging-and-clinical-findings-associated-with-choroid-plexus-spinal-cord-drop-metastases
#4
Carmen L Yeamans, Rodrigo Gutierrez-Quintana, Allison Haley, Catherine G Lamm
A 5 yr old castrated male whippet presented with a unique presentation of ambulatory paraparesis and subsequent diagnosis of primary intracranial choroid plexus carcinoma, with metastases to the cervical, thoracic, lumbar, and sacral spinal cord segments. Magnetic resonance imaging was performed initially of the thoracolumbar vertebral column and was followed by MRI sequences of the brain for confirmation of the presence of a primary intracranial tumor. The dog was euthanized immediately following diagnostic imaging due to the severity of clinical signs and poor prognosis...
August 9, 2017: Journal of the American Animal Hospital Association
https://www.readbyqxmd.com/read/28783147/marrow-ablative-chemotherapy-followed-by-tandem-autologous-hematopoietic-cell-transplantation-in-pediatric-patients-with-malignant-brain-tumors
#5
J A Guerra, G Dhall, A Marachelian, E Castillo, J Malvar, K Wong, R Sposto, J L Finlay
To improve survival in young children with malignant brain tumors, irradiation-avoiding or -minimizing marrow-ablative chemotherapy (HDCx) with autologous hematopoietic cell transplantation (AuHCT) has been investigated. We evaluated the outcome of 44 children with malignant brain tumors treated with HDCx and tandem AuHCT at Children's Hospital Los Angeles between June 1999 and July 2012. Forty-four children with malignant brain tumors were studied. Twenty-one had medulloblastoma/primitive neuro-ectodermal tumor, eight atypical teratoid/rhabdoid tumor (ATRT), five high-grade glioma, four malignant germ cell tumor, three ependymoma and three choroid plexus carcinoma...
August 7, 2017: Bone Marrow Transplantation
https://www.readbyqxmd.com/read/28677107/a-french-retrospective-study-on-clinical-outcome-in-102-choroid-plexus-tumors-in-children
#6
A Siegfried, S Morin, C Munzer, M B Delisle, M Gambart, S Puget, C A Maurage, C Miquel, C Dufour, P Leblond, N André, D Figarella Branger, J Kanold, J-L Kemeny, C Icher, A Vital, E Uro Coste, A I Bertozzi
The aim of this study was to review and describe therapeutic approaches in children with choroid plexus tumor (CPT) based on a nationwide series. The World Health Organization classification subdivides these rare tumors into three histological subtypes corresponding to three grades of malignancy: low grade (grade I) choroid plexus papilloma (CPP), intermediate grade (grade II) atypical choroid plexus papilloma (aCPP) and high grade (grade III) choroid plexus carcinoma (CPC). This retrospective study included 102 French children younger than 18 years, treated from 2000 to 2012: 54 CPP, 26 aCPP and 22 CPC...
July 4, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/28607820/incidental-choroid-plexus-papilloma-in-a-child-a-difficult-decision
#7
Avra S Laarakker, Jonathan Nakhla, Andrew Kobets, Rick Abbott
BACKGROUND: Choroid plexus tumors (CPT) in the pediatric population are usually discovered in symptomatic patients often with symptoms of increased intracranial pressure, with hydrocephalus as the most common presentation, along with seizures, subarachnoid hemorrhage, or focal neurological deficit. Most CPTs are found to be benign choroid plexus papillomas (CPP), whereas a small number are intermediate and malignant choroid plexus carcinomas (CPC). Total surgical resection is the established definitive treatment for symptomatic CPP...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/28460341/a-rare-case-of-choroid-plexus-carcinoma-that-led-to-the-diagnosis-of-lynch-syndrome-hereditary-nonpolyposis-colorectal-cancer
#8
Viola W Zhu, Sanjay Hinduja, Stevan R Knezevich, William R Silveira, Celia D DeLozier
Lynch syndrome (hereditary nonpolyposis colorectal cancer) is an autosomal dominant disorder characterized by a significant risk of colorectal and endometrial cancers. A variety of other epithelial cancers may be associated with this syndrome. Brian tumors are infrequent, but have been reported in series. Here, we report a case of a 34-year-old Caucasian woman with WHO grade III choroid plexus carcinoma (CPC). Comprehensive genomic profiling of the patient's resected brain tumor revealed mutations in six genes: PTEN, VHL, MSH6, NOTCH1, RB1, and TP53...
July 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/28453743/targeted-next-generation-sequencing-of-pediatric-neuro-oncology-patients-improves-diagnosis-identifies-pathogenic-germline-mutations-and-directs-targeted-therapy
#9
Cassie N Kline, Nancy M Joseph, James P Grenert, Jessica van Ziffle, Eric Talevich, Courtney Onodera, Mariam Aboian, Soonmee Cha, David R Raleigh, Steve Braunstein, Joseph Torkildson, David Samuel, Michelle Bloomer, Alejandra G de Alba Campomanes, Anuradha Banerjee, Nicholas Butowski, Corey Raffel, Tarik Tihan, Andrew W Bollen, Joanna J Phillips, W Michael Korn, Iwei Yeh, Boris C Bastian, Nalin Gupta, Sabine Mueller, Arie Perry, Theodore Nicolaides, David A Solomon
Background: Molecular profiling is revolutionizing cancer diagnostics and leading to personalized therapeutic approaches. Herein we describe our clinical experience performing targeted sequencing for 31 pediatric neuro-oncology patients. Methods: We sequenced 510 cancer-associated genes from tumor and peripheral blood to identify germline and somatic mutations, structural variants, and copy number changes. Results: Genomic profiling was performed on 31 patients with tumors including 11 high-grade gliomas, 8 medulloblastomas, 6 low-grade gliomas, 1 embryonal tumor with multilayered rosettes, 1 pineoblastoma, 1 uveal ganglioneuroma, 1 choroid plexus carcinoma, 1 chordoma, and 1 high-grade neuroepithelial tumor...
May 1, 2017: Neuro-oncology
https://www.readbyqxmd.com/read/28413558/choroid-plexus-papilloma
#10
Divya Sethi, Rashmi Arora, Ketan Garg, Parul Tanwar
Choroid plexus tumors are rare intracranial tumors which account for only 0.4-0.6% of all brain tumors. These are intraventricular papillary neoplasms derived from choroid plexus epithelium and range from choroid plexus papillomas (World Health Organisation (WHO) grade I) to choroid plexus carcinomas (WHO grade III). It is an important albeit rare cause of hydrocephalous. We present to you the case of a 1-year-old child who presented with the signs and symptoms of hydrocephalous and was diagnosed as choroid plexus papilloma on histopathology...
January 2017: Asian Journal of Neurosurgery
https://www.readbyqxmd.com/read/28291373/neoadjuvant-chemotherapy-for-atypical-teratoid-rhabdoid-tumors-case-report
#11
Meena Thatikunta, Ian Mutchnick, Jennifer Elster, Matthew P Thompson, Michael A Huang, Aaron C Spalding, Thomas Moriarty
Atypical teratoid rhabdoid tumors (ATRTs) are a rare pediatric brain tumor with high mortality rate. Several large series have reported achieving gross-total resection (GTR) in less than 50% of patients due to the lesions' large size, vascularity, and limited blood volume in young patients. While neoadjuvant chemotherapy for choroid plexus carcinomas in pediatric patients has become widely accepted, it has not been used as widely for other pediatric brain tumors. To the best of the authors' knowledge, there are only 3 published cases of neoadjuvant chemotherapy for ATRTs...
May 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28290001/choroid-plexus-tumors-in-adult-and-pediatric-populations-the-cleveland-clinic-and-university-hospitals-experience
#12
Michal Bahar, Hasan Hashem, Tanya Tekautz, Sarah Worley, Anne Tang, Peter de Blank, Johannes Wolff
Choroid plexus tumors (CPT) are rare neoplasms accounting for 1-4% of all pediatric brain tumors. They are divided into choroid plexus papilloma (CPP), atypical choroid plexus papilloma (APP) and choroid plexus carcinoma (CPC). CPTs are known to primarily affect children less than 2 years of age. Gross total resection is the most important predictor of survival especially in CPC. Although small case series have been published, limited clinical data are available to describe treatment and outcome of CPTs. More clinical data would be necessary to complete the picture, particularly in populations that are not age limited...
May 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/28180935/clinicopathological-features-and-microsurgical-outcomes-for-giant-pediatric-intracranial-tumor-in-60-consecutive-cases
#13
Ailing Guo, Vigneyshwar Suresh, Xianzhi Liu, Fuyou Guo
PURPOSE: Giant pediatric intracranial tumor (GPIT) remains to be a challenging disease with high morbidity and mortality. METHODS: The clinical data of 60 patients under 18 years of age operated on with GPIT (≥5 cm in diameter) were retrospectively analyzed. RESULTS: Gross total resection was achieved in 46 cases (77%) and subtotal resection was obtained in 14 cases (23%). Ninety percent (47/52) of the cases with obstructive hydrocephalus were resolved remarkably and only 10% (5/52) of the patients needed a ventriculoperitoneal shunt after tumor resection...
March 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27978508/targeted-next-generation-sequencing-of-pediatric-neuro-oncology-patients-improves-diagnosis-identifies-pathogenic-germline-mutations-and-directs-targeted-therapy
#14
Cassie N Kline, Nancy M Joseph, James P Grenert, Jessica van Ziffle, Eric Talevich, Courtney Onodera, Mariam Aboian, Soonmee Cha, David R Raleigh, Steve Braunstein, Joseph Torkildson, David Samuel, Michelle Bloomer, Alejandra G de Alba Campomanes, Anuradha Banerjee, Nicholas Butowski, Corey Raffel, Tarik Tihan, Andrew W Bollen, Joanna J Phillips, W Michael Korn, Iwei Yeh, Boris C Bastian, Nalin Gupta, Sabine Mueller, Arie Perry, Theodore Nicolaides, David A Solomon
BACKGROUND: Molecular profiling is revolutionizing cancer diagnostics and leading to personalized therapeutic approaches. Herein we describe our clinical experience performing targeted sequencing for 31 pediatric neuro-oncology patients. METHODS: We sequenced 510 cancer-associated genes from tumor and peripheral blood to identify germline and somatic mutations, structural variants, and copy number changes. RESULTS: Genomic profiling was performed on 31 patients with tumors including 11 high-grade gliomas, 8 medulloblastomas, 6 low-grade gliomas, 1 embryonal tumor with multilayered rosettes, 1 pineoblastoma, 1 uveal ganglioneuroma, 1 choroid plexus carcinoma, 1 chordoma, and 1 high-grade neuroepithelial tumor...
November 14, 2016: Neuro-oncology
https://www.readbyqxmd.com/read/27899174/concurrent-gliosarcoma-and-choroid-plexus-carcinoma-in-a-cow
#15
A Ortloff, J Neumann, O Illanes
Brain tumours in cattle are uncommon and the spontaneous development of primary brain tumours of different histological types is rare in both man and animals. In man, multiple concurrent primary tumours of different types are occasionally described. We report the rare simultaneous occurrence of two different primary brain tumours, gliosarcoma and choroid plexus carcinoma, diagnosed by microscopical and immunofluorescence evaluation in an 8-year-old cow with a 2-month history of neurological disease. Gliosarcoma is a rare variant of glioblastoma multiforme, characterized by the presence of malignant glial cells and mesenchymal tissue...
January 2017: Journal of Comparative Pathology
https://www.readbyqxmd.com/read/27551116/genome-wide-dna-methylation-analysis-reveals-epigenetic-dysregulation-of-microrna-34a-in-tp53-associated-cancer-susceptibility
#16
Nardin Samuel, Gavin Wilson, Mathieu Lemire, Badr Id Said, Youliang Lou, Weili Li, Diana Merino, Ana Novokmet, James Tran, Kim E Nichols, Jonathan L Finlay, Sanaa Choufani, Marc Remke, Vijay Ramaswamy, Florence M G Cavalli, Christine Elser, Lynn Meister, Michael D Taylor, Uri Tabori, Meredith Irwin, Rosanna Weksberg, Jonathan D Wasserman, Andrew D Paterson, Jordan R Hansford, Maria Isabel W Achatz, Thomas J Hudson, David Malkin
PURPOSE: Although the link between mutant TP53 and human cancer is unequivocal, a significant knowledge gap exists in clinically actionable molecular targets in Li-Fraumeni syndrome (LFS), a highly penetrant cancer predisposition syndrome associated with germline mutations in TP53. This study surveyed the epigenome to identify functionally and clinically relevant novel genes implicated in LFS. PATIENTS AND METHODS: We performed genome-wide methylation analyses of peripheral blood leukocyte DNA in germline TP53 mutation carriers (n = 72) and individuals with TP53 wild type in whom histologically comparable malignancies developed (n = 111)...
August 22, 2016: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/27496084/risks-of-first-and-subsequent-cancers-among-tp53-mutation-carriers-in-the-national-cancer-institute-li-fraumeni-syndrome-cohort
#17
Phuong L Mai, Ana F Best, June A Peters, Rosamma M DeCastro, Payal P Khincha, Jennifer T Loud, Renée C Bremer, Philip S Rosenberg, Sharon A Savage
BACKGROUND: Li-Fraumeni syndrome (LFS) is an autosomal dominant cancer predisposition syndrome characterized by a very high lifetime cancer risk and an early age at diagnosis of a wide cancer spectrum. Precise estimates for the risk of first and subsequent cancers are lacking. METHODS: The National Cancer Institute's Li-Fraumeni Syndrome Study includes families meeting the diagnostic criteria for LFS or Li-Fraumeni-like syndrome, and individuals with a germline TP53 mutation, choroid plexus carcinoma, adrenocortical carcinoma, or ≥3 cancers...
December 1, 2016: Cancer
https://www.readbyqxmd.com/read/27372242/disseminated-choroid-plexus-papillomas-in-adults-a-case-series-and-review-of-the-literature
#18
Marwah M Abdulkader, Nassir H Mansour, Jamie J Van Gompel, Gregory A Bosh, Edward J Dropcho, Jose M Bonnin, Aaron A Cohen-Gadol
Choroid plexus papillomas (CPPs) are uncommon, usually intraventricular, low-grade tumors, accounting for less than 1% of all intracranial neoplasms and 2-4% of brain tumors in children. Dissemination of CPPs to multiple levels of the neuraxis has been seldom observed. Thus far, only 26 adult patients have been reported in the English language literature. With some exceptions, disseminated CPPs have been observed in adults and involved multiple sites along the cerebrospinal fluid pathways. Occasionally, intraparenchymal extension has been documented, and secondary involvement of the suprasellar region has been reported in only five patients...
October 2016: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/27299432/infant-brain-tumours-a-tale-of-two-cities
#19
MULTICENTER STUDY
Satyashiva Munjal, Uttara Chatterjee, Matthieu Vinchon, Sandip Chatterjee
INTRODUCTION: Infantile brain tumours (age < 1 year) are increasingly being diagnosed due to advances in prenatal and perinatal diagnostic imaging. We present here our retrospective study of 64 infant brain tumours that brings to the fore the epidemiology, clinical presentation, pathology and outcome of this unique subset of paediatric brain tumours presenting to two tertiary referral centres in Kolkata in India and Lille in France between the years 1999 and 2014. METHODS: Data was retrospectively collected from Kolkata (n = 30) and Lille (n = 34) for patients presenting with infant brain tumours and analysed for factors such as age at presentation, clinical features, gender, location of tumour, pathology, management and outcome...
September 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27229317/nherf1-ebp50-and-nf2-as-diagnostic-markers-for-choroid-plexus-tumors
#20
Maria-Magdalena Georgescu, Bret C Mobley, Brent A Orr, Ping Shang, Norman L Lehman, Xiaoping Zhu, Thomas J O'Neill, Veena Rajaram, Kimmo J Hatanpaa, Charles F Timmons, Jack M Raisanen
The adaptor protein NHERF1 (Na/H exchanger-3 regulatory factor-1) and its associated ezrin-radixin-moesin-merlin/neurofibromin-2 (ERM-NF2) family proteins are required for epithelial morphogenesis and have been implicated in cancer progression. NHERF1 is expressed in ependymal cells and constitutes a highly sensitive diagnostic marker for ependymoma, where it labels membrane polarity structures. Since NHERF1 and ERM-NF2 proteins show polarized expression in choroid plexus (CP) cells, we tested their diagnostic utility in CP neoplasms...
May 27, 2016: Acta Neuropathologica Communications
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