Literature DB >> 34102393

Effect of PIK3CA variants on glioma-related epilepsy and response to treatment.

Steven Tobochnik1, William Pisano2, Emily Lapinskas2, Keith L Ligon3, Jong Woo Lee4.   

Abstract

Upregulation of the PI3K/AKT/mTOR pathway has been implicated in glioma-related epileptogenesis. In this retrospective analysis, epilepsy characteristics and response to treatment were evaluated in patients with gliomas harboring somatic mutation variants in PIK3CA. A cohort of 134 patients with 150 PIK3CA variants was extracted from previously validated databases. Patients with the hotspot H1047R, R88Q, E542K, and G118D variants comprised a subset (n = 41) for epilepsy phenotyping. In multivariate analysis, the presence of H1047R (n = 15) was associated with worse seizure control (p = 0.026). These results support preclinical findings and suggest that glioma PIK3CA variation may have promise as a biomarker for epilepsy severity and response to treatment. Published by Elsevier B.V.

Entities:  

Keywords:  Epilepsy; Focal seizure; Glioma; PIK3CA; Somatic mutation

Mesh：

Substances：

Year:  2021        PMID： 34102393      PMCID： PMC8277701          DOI： 10.1016/j.eplepsyres.2021.106681

Source DB:  PubMed          Journal:  Epilepsy Res        ISSN： 0920-1211            Impact factor:   2.991


  18 in total

1.  Identification of Variant-Specific Functions of PIK3CA by Rapid Phenotyping of Rare Mutations.

Authors:  Turgut Dogruluk; Yiu Huen Tsang; Maribel Espitia; Fengju Chen; Tenghui Chen; Zechen Chong; Vivek Appadurai; Armel Dogruluk; Agna Karina Eterovic; Penelope E Bonnen; Chad J Creighton; Ken Chen; Gordon B Mills; Kenneth L Scott
Journal:  Cancer Res       Date:  2015-12-01       Impact factor: 12.701

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Journal:  Brain       Date:  2015-02-25       Impact factor: 13.501

Review 3.  Characteristics and treatment of seizures in patients with high-grade glioma: a review.

Authors:  Dario J Englot; Mitchel S Berger; Edward F Chang; Paul A Garcia
Journal:  Neurosurg Clin N Am       Date:  2012-04       Impact factor: 2.509

Review 4.  American Clinical Neurophysiology Society's Standardized Critical Care EEG Terminology: 2012 version.

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Journal:  J Clin Neurophysiol       Date:  2013-02       Impact factor: 2.177

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Authors:  Gilles Huberfeld; Charles J Vecht
Journal:  Nat Rev Neurol       Date:  2016-03-11       Impact factor: 42.937

6.  Validation of OncoPanel: A Targeted Next-Generation Sequencing Assay for the Detection of Somatic Variants in Cancer.

Authors:  Elizabeth P Garcia; Alissa Minkovsky; Yonghui Jia; Matthew D Ducar; Priyanka Shivdasani; Xin Gong; Azra H Ligon; Lynette M Sholl; Frank C Kuo; Laura E MacConaill; Neal I Lindeman; Fei Dong
Journal:  Arch Pathol Lab Med       Date:  2017-03-03       Impact factor: 5.534

7.  PIK3CA cooperates with other phosphatidylinositol 3'-kinase pathway mutations to effect oncogenic transformation.

Authors:  Katsutoshi Oda; Jennifer Okada; Luika Timmerman; Pablo Rodriguez-Viciana; David Stokoe; Keiko Shoji; Yuji Taketani; Hiroyuki Kuramoto; Zachary A Knight; Kevan M Shokat; Frank McCormick
Journal:  Cancer Res       Date:  2008-10-01       Impact factor: 12.701

8.  OncDRS: An integrative clinical and genomic data platform for enabling translational research and precision medicine.

Authors:  John Orechia; Ameet Pathak; Yunling Shi; Aniket Nawani; Andrey Belozerov; Caitlin Fontes; Camille Lakhiani; Chetan Jawale; Chetansharan Patel; Daniel Quinn; Dmitry Botvinnik; Eddie Mei; Elizabeth Cotter; James Byleckie; Mollie Ullman-Cullere; Padam Chhetri; Poornima Chalasani; Purushotham Karnam; Ronald Beaudoin; Sandeep Sahu; Yelena Belozerova; Jomol P Mathew
Journal:  Appl Transl Genom       Date:  2015-09-14

9.  PIK3CA activating mutations are associated with more disseminated disease at presentation and earlier recurrence in glioblastoma.

Authors:  Shota Tanaka; Tracy T Batchelor; A John Iafrate; Dora Dias-Santagata; Darrell R Borger; Leif W Ellisen; Daniel Yang; David N Louis; Daniel P Cahill; Andrew S Chi
Journal:  Acta Neuropathol Commun       Date:  2019-04-29       Impact factor: 7.801

10.  Mechanisms and therapeutic implications of hypermutation in gliomas.

Authors:  Mehdi Touat; Yvonne Y Li; Adam N Boynton; Liam F Spurr; J Bryan Iorgulescu; Craig L Bohrson; Isidro Cortes-Ciriano; Cristina Birzu; Jack E Geduldig; Kristine Pelton; Mary Jane Lim-Fat; Sangita Pal; Ruben Ferrer-Luna; Shakti H Ramkissoon; Frank Dubois; Charlotte Bellamy; Naomi Currimjee; Juliana Bonardi; Kenin Qian; Patricia Ho; Seth Malinowski; Leon Taquet; Robert E Jones; Aniket Shetty; Kin-Hoe Chow; Radwa Sharaf; Dean Pavlick; Lee A Albacker; Nadia Younan; Capucine Baldini; Maïté Verreault; Marine Giry; Erell Guillerm; Samy Ammari; Frédéric Beuvon; Karima Mokhtari; Agusti Alentorn; Caroline Dehais; Caroline Houillier; Florence Laigle-Donadey; Dimitri Psimaras; Eudocia Q Lee; Lakshmi Nayak; J Ricardo McFaline-Figueroa; Alexandre Carpentier; Philippe Cornu; Laurent Capelle; Bertrand Mathon; Jill S Barnholtz-Sloan; Arnab Chakravarti; Wenya Linda Bi; E Antonio Chiocca; Katie Pricola Fehnel; Sanda Alexandrescu; Susan N Chi; Daphne Haas-Kogan; Tracy T Batchelor; Garrett M Frampton; Brian M Alexander; Raymond Y Huang; Azra H Ligon; Florence Coulet; Jean-Yves Delattre; Khê Hoang-Xuan; David M Meredith; Sandro Santagata; Alex Duval; Marc Sanson; Andrew D Cherniack; Patrick Y Wen; David A Reardon; Aurélien Marabelle; Peter J Park; Ahmed Idbaih; Rameen Beroukhim; Pratiti Bandopadhayay; Franck Bielle; Keith L Ligon
Journal:  Nature       Date:  2020-04-15       Impact factor: 49.962
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  1 in total

1.  Early EEG hyperexcitability is associated with decreased survival in newly diagnosed IDH-wildtype glioma.

Authors:  Steven Tobochnik; Emily Lapinskas; Jayne Vogelzang; Keith L Ligon; Jong Woo Lee
Journal:  J Neurooncol       Date:  2022-06-17       Impact factor: 4.506
  1 in total

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