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Pineoblastoma

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https://www.readbyqxmd.com/read/29758594/phox2b-is-a-reliable-immunomarker-in-distinguishing-peripheral-neuroblastic-tumors-from-cns-embryonal-tumors
#1
Sanda Alexandrescu, Vera Paulson, Adrian Dubuc, Azra Ligon, Hart G Lidov
INTRODUCTION: The PHOX2B gene regulates neuronal maturation in the brain stem nuclei associated with cardiorespiratory function, and in the autonomic sympathetic and enteric nervous system. PHOX2B expression is a reliable immunomarker for peripheral neuroblastic tumors, however no systematic evaluation of CNS embryonal tumors was included in the studies. We encountered two cases in which the differential diagnosis included neuroblastoma and CNS embryonal tumor, and we hypothesized that PHOX2B immunostain would be helpful establishing the diagnosis...
May 14, 2018: Histopathology
https://www.readbyqxmd.com/read/29709740/retrospective-analysis-of-the-clinical-characteristics-therapeutic-aspects-and-prognosis-factors-of-18-cases-of-childhood-pineoblastoma
#2
Yongji Tian, Raynald Liu, Junji Qin, Junmei Wang, Zhenyu Ma, Jian Gong, Chunde Li
Pineoblastoma is a rare malignant tumor of the pineal gland, which is more common in children. We retrospectively reviewed 18 cases of pineoblastoma in children (10 girls), including general, clinical, and therapeutic information, and factors affecting prognosis. The median age of the children was 51.7 months (19-156 mo). Presenting symptoms included vomiting (64.70%), headache (47.06%), weak or unsteady walking (35.29%), and nausea (29.41%). Rarer symptoms (one patient each) included limb rigidity, inability to speak, double vision, fever, and Parinaud's syndrome...
April 27, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29574250/a-pre-clinical-assessment-of-the-pan-erbb-inhibitor-dacomitinib-in-pediatric-and-adult-brain-tumors
#3
Raelene Endersby, Jacqueline Whitehouse, Hilary Hii, Sameer A Greenall, Terrance G Johns, Nicholas G Gottardo
Glioblastoma in adults, and medulloblastoma and pineoblastoma that mainly affect children, are aggressive brain tumors. The survival for patients with glioblastoma remains dismal. While the cure rate for medulloblastoma exceeds 70%, this figure has stagnated over the past few decades and survivors still contend with significant long-term debilitating side effects. The prognosis for pineoblastoma is age-dependent, with little chance of a cure for children younger than three years. More effective molecularly targeted strategies are urgently required to treat these cancers...
March 22, 2018: Neoplasia: An International Journal for Oncology Research
https://www.readbyqxmd.com/read/29408780/role-of-radiotherapy-in-residual-pineal-parenchymal-tumors
#4
Narendra Kumar, Gulladamane Yogesh Srinivasa, Renu Madan, Pravin Salunke
OBJECTIVES: Surgical excision of pineal parenchymal tumors(PPT), though desirable for good long term outcome, may not always be possible. Role of adjuvant radiotherapy (RT) in residual PPT's is not well delineated. The purpose of this single institutional retrospective study is to assess the role of radiotherapy in residual PPT's. PATIENTS AND METHODS: Between 2006-2016, fourteen patients with residual PPT's were treated with adjuvant radiotherapy (12 with 3D conformal RT)...
March 2018: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/29343557/dicer1-and-associated-conditions-identification-of-at-risk-individuals-and-recommended-surveillance-strategies
#5
Kris Ann P Schultz, Gretchen M Williams, Junne Kamihara, Douglas R Stewart, Anne K Harris, Andrew J Bauer, Joyce Turner, Rachana Shah, Katherine Schneider, Kami Wolfe Schneider, Ann Garrity Carr, Laura A Harney, Shari Baldinger, A Lindsay Frazier, Daniel Orbach, Dominik T Schneider, David Malkin, Louis P Dehner, Yoav H Messinger, Ashley Hill
Pathogenic germline DICER1 variants cause a hereditary cancer predisposition syndrome with a variety of manifestations. In addition to conferring increased cancer risks for pleuropulmonary blastoma (PPB) and ovarian sex cord-stromal tumors, particularly Sertoli-Leydig cell tumor, individuals with pathogenic germline DICER1 variants may also develop lung cysts, cystic nephroma, renal sarcoma and Wilms tumor, nodular hyperplasia of the thyroid, nasal chondromesenchymal hamartoma, ciliary body medulloepithelioma, genitourinary embryonal rhabdomyosarcoma and brain tumors including pineoblastoma and pituitary blastoma...
January 17, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29274449/proton-magnetic-resonance-spectroscopy-detection-of-high-lipid-levels-and-low-apparent-diffusion-coefficient-is-characteristic-of-germinomas
#6
Fumiyuki Yamasaki, Yasuyuki Kinoshita, Takeshi Takayasu, Satoshi Usui, Manish Kolakshyapati, Motoki Takano, Sayuru Tsuyuguchi, Vishwa Jeet Amatya, Yuji Akiyama, Yukio Takeshima, Kazuhiko Sugiyama, Kaoru Kurisu
BACKGROUND: The differentiation of germinoma from other tumors by conventional magnetic resonance imaging (MRI) can be very difficult. The purpose of our study was to determine whether diffusion-weighted imaging (DWI) and single-voxel proton magnetic resonance spectroscopy (1H-MRS) could provide additional useful information for a definitive diagnosis of germinomas. METHODS: Our hospital's Institutional Review Board approved this retrospective study. We reviewed imaging studies of 26 patients with histologically confirmed germinomas who were treated at our hospital between 2003 and 2016...
April 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29248974/management-and-outcome-of-children-and-adolescents-with-non-medulloblastoma-cns-embryonal-tumors-in-spain-room-for-improvement-in-standards-of-care
#7
Teresa de Rojas, Francisco Bautista, Miguel Flores, Lucía Igual, Raquel Rubio, Eduardo Bardón, Lucía Navarro, Laura Murillo, Raquel Hladun, Adela Cañete, Miguel Garcia-Ariza, Carmen Garrido, Ana Fernández-Teijeiro, Eduardo Quiroga, Carlota Calvo, Anna Llort, Inmaculada de Prada, Luis Madero, Ofelia Cruz, Lucas Moreno
Non-medulloblastoma CNS embryonal tumors (former PNET/Pineoblastomas) are aggressive malignancies with poor outcome that have been historically treated with medulloblastoma protocols. The purpose of this study is to present a tumor-specific, real-world data cohort of patients with CNS-PNET/PB to analyze quality indicators that can be implemented to improve the outcome of these patients. Patients 0-21 years with CNS-PNET treated in eight large institutions were included. Baseline characteristics, treatment and outcome [progression-free and overall survival (PFS and OS respectively)] were analyzed...
March 2018: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/29206312/risk-of-cancer-in-children-exposed-to-antiretroviral-nucleoside-analogues-in-utero-the-french-experience
#8
Mira Hleyhel, Stéphanie Goujon, Jeanne Sibiude, Roland Tubiana, Catherine Dollfus, Albert Faye, Laurent Mandelbrot, Jacqueline Clavel, Josiane Warszawski, Stéphane Blanche
All nucleoside analogues for treating HIV infection, due to their capacity to integrate into and alter human DNA, are experimentally genotoxic to some extent. The long-term oncogenic risk after in utero exposure remains to be determined. Cancer incidence in uninfected children exposed to nucleos(t)ide reverse transcriptase inhibitors (NRTIs) was evaluated, by cross-checking against the National Cancer Registry, in the French perinatal study of children born to HIV+ mothers. Twenty-one cancers were identified in 15,163 children (median age: 9...
December 5, 2017: Environmental and Molecular Mutagenesis
https://www.readbyqxmd.com/read/28960912/dicer1-syndrome-approach-to-testing-and-management-at-a-large-pediatric-tertiary-care-center
#9
Kalene van Engelen, Anita Villani, Jonathan D Wasserman, Laura Aronoff, Mary-Louise C Greer, Marta Tijerin Bueno, Bailey Gallinger, Raymond H Kim, Ronald Grant, M Stephen Meyn, David Malkin, Harriet Druker
BACKGROUND: To expand the current knowledge of DICER1 syndrome and to propose criteria for genetic testing based on experience at a pediatric tertiary care center. PROCEDURE: This study involved a retrospective chart review of the 78 patients (47 probands and 31 family members) seen in the Cancer Genetics Program at The Hospital for Sick Children (SickKids) who were offered genetic testing for DICER1. RESULTS: Of 47 probands offered genetic testing for DICER1, 46 pursued testing: 11 (23...
January 2018: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28931256/the-posterior-transcallosal-approach-to-the-pineal-region-and-posterior-third-ventricle-intervenous-and-paravenous-variants
#10
Prayash G Patel, Aaron A Cohen-Gadol, Philippe Mercier, Frederick A Boop, Paul Klimo
BACKGROUND: There are a number of surgical approaches to the posterior third ventricle and pineal region, each with its associated advantages and disadvantages. OBJECTIVE: To present our experience with the posterior interhemispheric transcallosal approach and to analyze the indications, technique, and outcomes. METHODS: A retrospective study was conducted to identify and analyze all children and young adults who underwent the posterior transcallosal approach from July 2010 to March 2015...
February 1, 2017: Operative Neurosurgery (Hagerstown, Md.)
https://www.readbyqxmd.com/read/28751141/histology-stratified-tumor-control-and-patient-survival-after-stereotactic-radiosurgery-for-pineal-region-tumors-a-report-from-the-international-gamma-knife-research-foundation
#11
MULTICENTER STUDY
Christian Iorio-Morin, Hideyuki Kano, Marshall Huang, L Dade Lunsford, Gabriela Simonová, Roman Liscak, Or Cohen-Inbar, Jason Sheehan, Cheng-Chia Lee, Hsiu-Mei Wu, David Mathieu
BACKGROUND: Pineal region tumors represent a rare and histologically diverse group of lesions. Few studies are available to guide management and the outcomes after stereotactic radiosurgery (SRS). METHODS: Patients who underwent SRS for a pineal region tumor and for whom at least 6 months of imaging follow-up was available were retrospectively assessed in 5 centers. Data were collected from the medical record and histology level analyses were performed, including actuarial tumor control and survival analyses...
November 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28719464/nuclear-crx-and-foxj1-expression-differentiates-non-germ-cell-pineal-region-tumors-and-supports-the-ependymal-differentiation-of-papillary-tumor-of-the-pineal-region
#12
Shannon Coy, Adrian M Dubuc, Sonika Dahiya, Keith L Ligon, Alexandre Vasiljevic, Sandro Santagata
Papillary tumor of the pineal region (PTPR) is a neuroepithelial neoplasm first described in 2003. Despite the anatomic association of PTPR with the pineal gland, the features of these tumors resemble those of the ependymal circumventricular subcommissural organ (SCO) of the posterior third ventricle. Given the presumed distinct derivation of PTPR and pineal parenchymal tumors, we hypothesized that expression of lineage-specific transcription factors could distinguish these tumors and provide additional insight into the differentiation of PTPR...
October 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28674118/retinoblastoma-and-neuroblastoma-predisposition-and-surveillance
#13
REVIEW
Junne Kamihara, Franck Bourdeaut, William D Foulkes, Jan J Molenaar, Yaël P Mossé, Akira Nakagawara, Andreu Parareda, Sarah R Scollon, Kami Wolfe Schneider, Alison H Skalet, Lisa J States, Michael F Walsh, Lisa R Diller, Garrett M Brodeur
Retinoblastoma (RB) is the most common intraocular malignancy in childhood. Approximately 40% of retinoblastomas are hereditary and due to germline mutations in the RB1 gene. Children with hereditary RB are also at risk for developing a midline intracranial tumor, most commonly pineoblastoma. We recommend intensive ocular screening for patients with germline RB1 mutations for retinoblastoma as well as neuroimaging for pineoblastoma surveillance. There is an approximately 20% risk of developing second primary cancers among individuals with hereditary RB, higher among those who received radiotherapy for their primary RB tumors...
July 1, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28620008/pten-dicer1-fh-and-their-associated-tumor-susceptibility-syndromes-clinical-features-genetics-and-surveillance-recommendations-in-childhood
#14
REVIEW
Kris Ann P Schultz, Surya P Rednam, Junne Kamihara, Leslie Doros, Maria Isabel Achatz, Jonathan D Wasserman, Lisa R Diller, Laurence Brugières, Harriet Druker, Katherine A Schneider, Rose B McGee, William D Foulkes
PTEN hamartoma tumor syndrome (PHTS), DICER1 syndrome, and hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome are pleiotropic tumor predisposition syndromes that include benign and malignant neoplasms affecting adults and children. PHTS includes several disorders with shared and distinct clinical features. These are associated with elevated lifetime risk of breast, thyroid, endometrial, colorectal, and renal cancers as well as melanoma. Thyroid cancer represents the predominant cancer risk under age 20 years...
June 15, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28600304/second-primary-malignancies-in-retinoblastoma-patients-treated-with-intra-arterial-chemotherapy-the-first-10-years
#15
Larissa A Habib, Jasmine H Francis, Armida Wm Fabius, Pierre Y Gobin, Ira J Dunkel, David H Abramson
BACKGROUND/AIMS: Survivors of retinoblastoma carry a lifetime risk of secondary malignancies. It is well established that external beam radiation increases this risk; however, the risk with ophthalmic artery chemosurgery (OAC) remains unknown. We report on 10 years of experience with OAC and the rate of second primary malignancy (SPM) development. METHODS: This is a single-centre retrospective review approved by the Memorial Sloan Kettering Cancer Center Institutional Review Board of all patients who received OAC over a 10-year period, from May 2006 to November 2016...
February 2018: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/28474256/pediatric-imaging-in-dicer1-syndrome
#16
Marta Tijerin Bueno, Claudia Martínez-Ríos, Alejandro De la Puente Gregorio, Rayan A Ahyad, Anita Villani, Harriet Druker, Kalene van Engelen, Bailey Gallinger, Laura Aronoff, Ronald Grant, David Malkin, Mary-Louise C Greer
BACKGROUND: DICER1 syndrome, arising from a mutation in the DICER1 gene mapped to chromosome 14q32, is associated with an increased risk of a range of benign and malignant neoplasms. OBJECTIVE: To determine the spectrum of abnormalities and imaging characteristics in patients with DICER1 syndrome at a tertiary pediatric hospital. MATERIALS AND METHODS: This retrospective analysis evaluated imaging in patients ≤18 years with DICER1 germline variants between January 2004 and July 2016...
September 2017: Pediatric Radiology
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
#17
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/28378288/development-of-cystic-malacia-after-high-dose-cranial-irradiation-of-pediatric-cns-tumors-in-long-term-follow-up
#18
Fumiyuki Yamasaki, Takeshi Takayasu, Ryo Nosaka, Ikuno Nishibuchi, Hiroshi Kawaguchi, Manish Kolakshyapati, Shumpei Onishi, Taiichi Saito, Kazuhiko Sugiyama, Masao Kobayashi, Kaoru Kurisu
PURPOSE: The purpose of this study is to investigate the incidence of cystic malacia in long-term survivors of pediatric brain tumors treated with high-dose cranial irradiation. MATERIALS AND METHODS: Between 1997 and 2015, we treated 41 pediatric patients (26 males, 15 females; age ranging from 3.3 to 15.7 years, median 9-year-old) of pediatric brain tumors [17 medulloblastomas, 7 primitive neuroectodermal tumors (PNET), 3 pineoblastomas, 6 non-germinomatous germ cell tumors (NGGCT), 8 gliomas (including 4 ependymomas, 1 anaplastic astrocytoma, 1 oligodendroglioma, 1 pilocytic astrocytoma, 1 astroblastoma)] with high-dose craniospinal irradiation...
June 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28327927/pineoblastoma-the-experience-at-st-jude-children-s-research-hospital
#19
Kara A Parikh, Garrett T Venable, Brent A Orr, Asim F Choudhri, Frederick A Boop, Amar J Gajjar, Paul Klimo
BACKGROUND: Pineoblastomas are rare, supratentorial, primitive neuroectodermal tumors. OBJECTIVE: To document outcomes with multimodal therapy and evaluate the impact that the degree of surgical resection has on outcome. METHODS: A departmental brain tumor database was queried to identify all patients with pathologically proven pineoblastoma who were treated from January 1997 to June 2015 at St. Jude Children's Research Hospital. For each patient, we recorded demographic, pathological, radiological, surgical, and clinical follow-up data...
July 1, 2017: Neurosurgery
https://www.readbyqxmd.com/read/28011926/evaluation-of-age-dependent-treatment-strategies-for-children-and-young-adults-with-pineoblastoma-analysis-of-pooled-european-society-for-paediatric-oncology-siop-e-and-us-head-start-data
#20
Martin Mynarek, Barry Pizer, Christelle Dufour, Dannis van Vuurden, Miklos Garami, Maura Massimino, Jason Fangusaro, Tom Davidson, Maria Joao Gil-da-Costa, Jaroslav Sterba, Martin Benesch, Nicolas Gerber, B Ole Juhnke, Robert Kwiecien, Torsten Pietsch, Marcel Kool, Steve Clifford, David W Ellison, Felice Giangaspero, Pieter Wesseling, Floyd Gilles, Nicholas Gottardo, Jonathan L Finlay, Stefan Rutkowski, Katja von Hoff
Background: Pineoblastoma is a rare pineal region brain tumor. Treatment strategies have reflected those for other malignant embryonal brain tumors. Patients and Methods: Original prospective treatment and outcome data from international trial groups were pooled. Cox regression models were developed considering treatment elements as time-dependent covariates. Results: Data on 135 patients with pineoblastoma aged 0.01-20.7 (median 4.9) years were analyzed...
April 1, 2017: Neuro-oncology
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