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Choroid plexus carcinoma

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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
#1
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...
April 19, 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
#2
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
#3
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
#4
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
#5
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...
March 13, 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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
https://www.readbyqxmd.com/read/27216721/kir7-1-immunoreactivity-in-canine-choroid-plexus-tumors
#14
Eun Ju Choi, Erica A Sloma, Andrew D Miller
Choroid plexus neoplasms are uncommon brain tumors in dogs. Choroid plexus carcinomas often spread diffusely throughout the ventricular system and subarachnoid space and, in aggressive forms, can mimic histologic patterns of other carcinomas, including being embedded in a desmoplastic reaction. Although choroid plexus tumors (CPTs) heterogeneously express pan-cytokeratin, little is known about other markers to identify choroid plexus and their associated tumors. Kir7.1, an inward-rectifier potassium channel, is reported to have high diagnostic utility in human neuropathology to distinguish CPTs from other primary brain tumors and cerebral metastases...
July 2016: Journal of Veterinary Diagnostic Investigation
https://www.readbyqxmd.com/read/26943652/selective-expression-of-transthyretin-in-subtypes-of-lung-cancer
#15
Shuai Hao, Suozhu Sun, Xueyuan Xiao, Dacheng He, Liyun Liu
Transthyretin (TTR) is expressed primarily in liver, choroid plexus of brain and pancreatic islet A and B cells. It is also synthesized in some endocrine tumors. In the present study, the protein expression of TTR in lung cancer tissues and cell lines was investigated by western blot. The mRNA expression of TTR in 24 pairs of frozen lung cancer tissues was examined by RT-PCR. The specific expression and cellular distribution of TTR were also evaluated in 104 paraffin-embedded lung cancer samples and 3 normal lung tissues by immunohistochemistry...
June 2016: Journal of Molecular Histology
https://www.readbyqxmd.com/read/26690880/decreased-foxj1-expression-and-its-ciliogenesis-programme-in-aggressive-ependymoma-and-choroid-plexus-tumours
#16
Malak S Abedalthagafi, Michael P Wu, Parker H Merrill, Ziming Du, Terri Woo, Shu-Hsien Sheu, Shelley Hurwitz, Keith L Ligon, Sandro Santagata
Well-differentiated human cancers share transcriptional programmes with the normal tissue counterparts from which they arise. These programmes broadly influence cell behaviour and function and are integral modulators of malignancy. Here, we show that the master regulator of motile ciliogenesis, FOXJ1, is highly expressed in cells along the ventricular surface of the human brain. Strong expression is present in cells of the ependyma and the choroid plexus as well as in a subset of cells residing in the subventricular zone...
March 2016: Journal of Pathology
https://www.readbyqxmd.com/read/26478476/choroid-plexus-tumors-experience-of-10-cases-with-special-references-to-adult-cases
#17
Manoj Bohara, Masashi Hirabaru, Shingo Fujio, Michiyo Higashi, Hajime Yonezawa, Prasanna Karki, Ryosuke Hanaya, Hirofumi Hirano, Hiroshi Tokimura, Kazunori Arita
Choroid plexus tumors (CPTs) are rare intraventricular neoplasms accounting for about 0.3-0.6% of all intracranial tumors. This retrospective study on CPTs presents clinico-pathological features and management strategies based on a 20-year single-institutional experience. This series included 10 consecutive patients with pathologically proven CPTs; 5 choroid plexus papillomas (CPPs), 3 atypical CPPs (ACPPs), and 2 choroid plexus carcinomas (CPCs). Their clinical, radiological, and histopathological features as well as management including follow-up studies were reviewed...
2015: Neurologia Medico-chirurgica
https://www.readbyqxmd.com/read/26452166/occurrence-of-neuroblastoma-among-tp53-p-r337h-carriers
#18
Ana Luiza Seidinger, Fernanda Paschoal Fortes, Maria José Mastellaro, Izilda Aparecida Cardinalli, Lilian Girotto Zambaldi, Simone Santos Aguiar, José Andrés Yunes
The high incidence of adrenocortical tumors and choroid plexus carcinoma in children from South and Southeastern regions of Brazil is associated with the germline p.R337H mutation of TP53 gene. The concomitant occurrence of neuroblastoma and adrenocortical tumors in pediatric patients harboring the p.R337H mutation at our institution prompted us to investigate the putative association between p.R337H and pediatric neuroblastoma. Genomic DNA samples from 83 neuroblastoma patients referred to a single institution during the period of 2000-2014 were screened for the p...
2015: PloS One
https://www.readbyqxmd.com/read/26442551/solitary-metastasis-of-renal-cell-carcinoma-to-the-third-ventricle-mimicking-a-colloid-cyst-case-report
#19
Mete Karatay, Ender Koktekir, Yavuz Erdem, Haydar Celik, Mehmet Akif Bayar
Colloid cysts are the most common third ventricle lesions and metastasis to this area is rare. We presented a case of solitary metastasis from a renal cell carcinoma to the third ventricle choroid plexus mimicking a colloid cyst. A 53-year-old man, who had a history of renal cell carcinoma 12 years ago, was operated for single third ventricle lesion and hydrocephalus via a transcallosal approach. Total removal could not be performed due to intraoperative massive bleeding. Histological examination revealed a metastatic renal cell carcinoma...
2015: Turkish Neurosurgery
https://www.readbyqxmd.com/read/26439197/choroid-plexus-carcinoma-in-the-external-ventricle-of-an-adult
#20
LETTER
Pin Guo, Wanzhong Tang, Shifang Li, Huanting Li, Lei Cheng, Yugong Feng, Yanan Yu
No abstract text is available yet for this article.
October 2015: Journal of Craniofacial Surgery
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