Literature DB >> 31276167

The medical necessity of advanced molecular testing in the diagnosis and treatment of brain tumor patients.

Craig Horbinski1,2, Keith L Ligon3,4, Priscilla Brastianos5, Jason T Huse6,7, Monica Venere8, Susan Chang9, Jan Buckner10, Timothy Cloughesy11, Robert B Jenkins12, Caterina Giannini12, Roger Stupp2,13, L Burt Nabors14, Patrick Y Wen15,16, Kenneth J Aldape17, Rimas V Lukas13, Evanthia Galanis10, Charles G Eberhart13,18,19, Daniel J Brat1, Jann N Sarkaria20.   

Abstract

Accurate pathologic diagnoses and molecularly informed treatment decisions for a wide variety of cancers depend on robust clinical molecular testing that uses genomic, epigenomic, and transcriptomic-based tools. Nowhere is this more essential than in the workup of brain tumors, as emphasized by the incorporation of molecular criteria into the 2016 World Health Organization classification of central nervous system tumors and the updated official guidelines of the National Comprehensive Cancer Network. Despite the medical necessity of molecular testing in brain tumors, access to and utilization of molecular diagnostics is still highly variable across institutions, and a lack of reimbursement for such testing remains a significant obstacle. The objectives of this review are (i) to identify barriers to adoption of molecular testing in brain tumors, (ii) to describe the current molecular tools recommended for the clinical evaluation of brain tumors, and (iii) to summarize how molecular data are interpreted to guide clinical care, so as to improve understanding and justification for their coverage in the routine workup of adult and pediatric brain tumor cases.
© The Author(s) 2019. Published by Oxford University Press on behalf of the Society for Neuro-Oncology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Entities:  

Keywords:  embryona; ependymoma; glioma; meningioma; molecular

Mesh:

Substances:

Year:  2019        PMID: 31276167      PMCID: PMC6917404          DOI: 10.1093/neuonc/noz119

Source DB:  PubMed          Journal:  Neuro Oncol        ISSN: 1522-8517            Impact factor:   12.300


  87 in total

1.  Targeted BRAF and CTNNB1 next-generation sequencing allows proper classification of nonadenomatous lesions of the sellar region in samples with limiting amounts of lesional cells.

Authors:  Gianluca Marucci; Dario de Biase; Matteo Zoli; Marco Faustini-Fustini; Antonella Bacci; Ernesto Pasquini; Michela Visani; Diego Mazzatenta; Giorgio Frank; Giovanni Tallini
Journal:  Pituitary       Date:  2015-12       Impact factor: 4.107

2.  Radiation plus Procarbazine, CCNU, and Vincristine in Low-Grade Glioma.

Authors:  Jan C Buckner; Edward G Shaw; Stephanie L Pugh; Arnab Chakravarti; Mark R Gilbert; Geoffrey R Barger; Stephen Coons; Peter Ricci; Dennis Bullard; Paul D Brown; Keith Stelzer; David Brachman; John H Suh; Christopher J Schultz; Jean-Paul Bahary; Barbara J Fisher; Harold Kim; Albert D Murtha; Erica H Bell; Minhee Won; Minesh P Mehta; Walter J Curran
Journal:  N Engl J Med       Date:  2016-04-07       Impact factor: 91.245

3.  New Brain Tumor Entities Emerge from Molecular Classification of CNS-PNETs.

Authors:  Dominik Sturm; Brent A Orr; Umut H Toprak; Volker Hovestadt; David T W Jones; David Capper; Martin Sill; Ivo Buchhalter; Paul A Northcott; Irina Leis; Marina Ryzhova; Christian Koelsche; Elke Pfaff; Sariah J Allen; Gnanaprakash Balasubramanian; Barbara C Worst; Kristian W Pajtler; Sebastian Brabetz; Pascal D Johann; Felix Sahm; Jüri Reimand; Alan Mackay; Diana M Carvalho; Marc Remke; Joanna J Phillips; Arie Perry; Cynthia Cowdrey; Rachid Drissi; Maryam Fouladi; Felice Giangaspero; Maria Łastowska; Wiesława Grajkowska; Wolfram Scheurlen; Torsten Pietsch; Christian Hagel; Johannes Gojo; Daniela Lötsch; Walter Berger; Irene Slavc; Christine Haberler; Anne Jouvet; Stefan Holm; Silvia Hofer; Marco Prinz; Catherine Keohane; Iris Fried; Christian Mawrin; David Scheie; Bret C Mobley; Matthew J Schniederjan; Mariarita Santi; Anna M Buccoliero; Sonika Dahiya; Christof M Kramm; André O von Bueren; Katja von Hoff; Stefan Rutkowski; Christel Herold-Mende; Michael C Frühwald; Till Milde; Martin Hasselblatt; Pieter Wesseling; Jochen Rößler; Ulrich Schüller; Martin Ebinger; Jens Schittenhelm; Stephan Frank; Rainer Grobholz; Istvan Vajtai; Volkmar Hans; Reinhard Schneppenheim; Karel Zitterbart; V Peter Collins; Eleonora Aronica; Pascale Varlet; Stephanie Puget; Christelle Dufour; Jacques Grill; Dominique Figarella-Branger; Marietta Wolter; Martin U Schuhmann; Tarek Shalaby; Michael Grotzer; Timothy van Meter; Camelia-Maria Monoranu; Jörg Felsberg; Guido Reifenberger; Matija Snuderl; Lynn Ann Forrester; Jan Koster; Rogier Versteeg; Richard Volckmann; Peter van Sluis; Stephan Wolf; Tom Mikkelsen; Amar Gajjar; Kenneth Aldape; Andrew S Moore; Michael D Taylor; Chris Jones; Nada Jabado; Matthias A Karajannis; Roland Eils; Matthias Schlesner; Peter Lichter; Andreas von Deimling; Stefan M Pfister; David W Ellison; Andrey Korshunov; Marcel Kool
Journal:  Cell       Date:  2016-02-25       Impact factor: 41.582

4.  Germline and somatic BAP1 mutations in high-grade rhabdoid meningiomas.

Authors:  Ganesh M Shankar; Malak Abedalthagafi; Rachael A Vaubel; Parker H Merrill; Naema Nayyar; Corey M Gill; Ryan Brewster; Wenya Linda Bi; Pankaj K Agarwalla; Aaron R Thorner; David A Reardon; Ossama Al-Mefty; Patrick Y Wen; Brian M Alexander; Paul van Hummelen; Tracy T Batchelor; Keith L Ligon; Azra H Ligon; Matthew Meyerson; Ian F Dunn; Rameen Beroukhim; David N Louis; Arie Perry; Scott L Carter; Caterina Giannini; William T Curry; Daniel P Cahill; Frederick G Barker; Priscilla K Brastianos; Sandro Santagata
Journal:  Neuro Oncol       Date:  2017-04-01       Impact factor: 12.300

Review 5.  Immunohistochemistry of INI1 expression: a new tool for old challenges in CNS and soft tissue pathology.

Authors:  Alexander R Judkins
Journal:  Adv Anat Pathol       Date:  2007-09       Impact factor: 3.875

6.  TERT Promoter Mutations and Risk of Recurrence in Meningioma.

Authors:  Felix Sahm; Daniel Schrimpf; Adriana Olar; Christian Koelsche; David Reuss; Juliane Bissel; Annekathrin Kratz; David Capper; Sebastian Schefzyk; Thomas Hielscher; Qianghu Wang; Erik P Sulman; Sebastian Adeberg; Arend Koch; Ali Fuat Okuducu; Stefanie Brehmer; Jens Schittenhelm; Albert Becker; Benjamin Brokinkel; Melissa Schmidt; Theresa Ull; Konstantinos Gousias; Almuth Friederike Kessler; Katrin Lamszus; Jürgen Debus; Christian Mawrin; Yoo-Jin Kim; Matthias Simon; Ralf Ketter; Werner Paulus; Kenneth D Aldape; Christel Herold-Mende; Andreas von Deimling
Journal:  J Natl Cancer Inst       Date:  2015-12-13       Impact factor: 13.506

Review 7.  Risk stratification of childhood medulloblastoma in the molecular era: the current consensus.

Authors:  Vijay Ramaswamy; Marc Remke; Eric Bouffet; Simon Bailey; Steven C Clifford; Francois Doz; Marcel Kool; Christelle Dufour; Gilles Vassal; Till Milde; Olaf Witt; Katja von Hoff; Torsten Pietsch; Paul A Northcott; Amar Gajjar; Giles W Robinson; Laetitia Padovani; Nicolas André; Maura Massimino; Barry Pizer; Roger Packer; Stefan Rutkowski; Stefan M Pfister; Michael D Taylor; Scott L Pomeroy
Journal:  Acta Neuropathol       Date:  2016-04-04       Impact factor: 17.088

8.  Detection, Characterization, and Inhibition of FGFR-TACC Fusions in IDH Wild-type Glioma.

Authors:  Anna Luisa Di Stefano; Alessandra Fucci; Veronique Frattini; Marianne Labussiere; Karima Mokhtari; Pietro Zoppoli; Yannick Marie; Aurelie Bruno; Blandine Boisselier; Marine Giry; Julien Savatovsky; Mehdi Touat; Hayat Belaid; Aurelie Kamoun; Ahmed Idbaih; Caroline Houillier; Feng R Luo; Jean-Charles Soria; Josep Tabernero; Marica Eoli; Rosina Paterra; Stephen Yip; Kevin Petrecca; Jennifer A Chan; Gaetano Finocchiaro; Anna Lasorella; Marc Sanson; Antonio Iavarone
Journal:  Clin Cancer Res       Date:  2015-01-21       Impact factor: 13.801

9.  Multi-faceted computational assessment of risk and progression in oligodendroglioma implicates NOTCH and PI3K pathways.

Authors:  Lee A D Cooper; Daniel J Brat; Sameer H Halani; Safoora Yousefi; Jose Velazquez Vega; Michael R Rossi; Zheng Zhao; Fatemeh Amrollahi; Chad A Holder; Amelia Baxter-Stoltzfus; Jennifer Eschbacher; Brent Griffith; Jeffrey J Olson; Tao Jiang; Joseph R Yates; Charles G Eberhart; Laila M Poisson
Journal:  NPJ Precis Oncol       Date:  2018-11-06

10.  BRAF Inhibition in BRAFV600-Mutant Gliomas: Results From the VE-BASKET Study.

Authors:  Thomas Kaley; Mehdi Touat; Vivek Subbiah; Antoine Hollebecque; Jordi Rodon; A Craig Lockhart; Vicki Keedy; Franck Bielle; Ralf-Dieter Hofheinz; Florence Joly; Jean-Yves Blay; Ian Chau; Igor Puzanov; Noopur S Raje; Jurgen Wolf; Lisa M DeAngelis; Martina Makrutzki; Todd Riehl; Bethany Pitcher; Jose Baselga; David M Hyman
Journal:  J Clin Oncol       Date:  2018-10-23       Impact factor: 44.544

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  17 in total

Review 1.  Glioblastoma in adults: a Society for Neuro-Oncology (SNO) and European Society of Neuro-Oncology (EANO) consensus review on current management and future directions.

Authors:  Patrick Y Wen; Michael Weller; Eudocia Quant Lee; Brian M Alexander; Jill S Barnholtz-Sloan; Floris P Barthel; Tracy T Batchelor; Ranjit S Bindra; Susan M Chang; E Antonio Chiocca; Timothy F Cloughesy; John F DeGroot; Evanthia Galanis; Mark R Gilbert; Monika E Hegi; Craig Horbinski; Raymond Y Huang; Andrew B Lassman; Emilie Le Rhun; Michael Lim; Minesh P Mehta; Ingo K Mellinghoff; Giuseppe Minniti; David Nathanson; Michael Platten; Matthias Preusser; Patrick Roth; Marc Sanson; David Schiff; Susan C Short; Martin J B Taphoorn; Joerg-Christian Tonn; Jonathan Tsang; Roel G W Verhaak; Andreas von Deimling; Wolfgang Wick; Gelareh Zadeh; David A Reardon; Kenneth D Aldape; Martin J van den Bent
Journal:  Neuro Oncol       Date:  2020-08-17       Impact factor: 12.300

Review 2.  Clinical neuro-oncology for the neurologist.

Authors:  Rimas V Lukas; Jennie W Taylor; Sylvia C Kurz; Nimish A Mohile
Journal:  Neurol Clin Pract       Date:  2020-10

Review 3.  Major Features of the 2021 WHO Classification of CNS Tumors.

Authors:  Heather L Smith; Nitin Wadhwani; Craig Horbinski
Journal:  Neurotherapeutics       Date:  2022-05-16       Impact factor: 7.620

4.  Congress of Neurological Surgeons systematic review and evidence-based guidelines update on the role of cytotoxic chemotherapy and other cytotoxic therapies in the management of progressive glioblastoma in adults.

Authors:  Isabelle M Germano; Mateo Ziu; Patrick Wen; D Ryan Ormond; Jeffrey J Olson
Journal:  J Neurooncol       Date:  2022-02-23       Impact factor: 4.130

Review 5.  Clinical implications of the 2021 edition of the WHO classification of central nervous system tumours.

Authors:  Roger J Packer; Patrick Y Wen; Craig Horbinski; Tamar Berger
Journal:  Nat Rev Neurol       Date:  2022-06-21       Impact factor: 44.711

6.  Clinical utility of targeted next-generation sequencing assay in IDH-wildtype glioblastoma for therapy decision-making.

Authors:  Mary Jane Lim-Fat; Gilbert C Youssef; Mehdi Touat; J Bryan Iorgulescu; Sydney Whorral; Marie Allen; Rifaquat Rahman; Ugonma Chukwueke; J Ricardo McFaline-Figueroa; Lakshmi Nayak; Eudocia Q Lee; Tracy T Batchelor; Omar Arnaout; Pier Paolo Peruzzi; E Antonio Chiocca; David A Reardon; David Meredith; Sandro Santagata; Rameen Beroukhim; Wenya Linda Bi; Keith L Ligon; Patrick Y Wen
Journal:  Neuro Oncol       Date:  2022-07-01       Impact factor: 13.029

7.  Is Next-Generation Sequencing Alone Sufficient to Reliably Diagnose Gliomas?

Authors:  Kwok Ling Kam; Christina L Appin; Qinwen Mao; Sachie Ikegami; Rimas V Lukas; Marina N Nikiforova; Somak Roy; Daniel J Brat; Craig Horbinski
Journal:  J Neuropathol Exp Neurol       Date:  2020-07-01       Impact factor: 3.685

8.  The Frequency of Focal Cortical Dysplasia-Like Histologic Features Near Adult-Type Diffuse Gliomas.

Authors:  Mireille Bitar; Yevgen Chornenkyy; Margaret E Flanagan; Alicia Steffens; Kathleen McCortney; Craig Horbinski
Journal:  J Neuropathol Exp Neurol       Date:  2022-01-21       Impact factor: 3.685

9.  DICOM Image ANalysis and Archive (DIANA): an Open-Source System for Clinical AI Applications.

Authors:  Thomas Yi; Ian Pan; Scott Collins; Fiona Chen; Robert Cueto; Ben Hsieh; Celina Hsieh; Jessica L Smith; Li Yang; Wei-Hua Liao; Lisa H Merck; Harrison Bai; Derek Merck
Journal:  J Digit Imaging       Date:  2021-11-02       Impact factor: 4.903

Review 10.  Multi-Omics Analysis in Initiation and Progression of Meningiomas: From Pathogenesis to Diagnosis.

Authors:  Jiachen Liu; Congcong Xia; Gaiqing Wang
Journal:  Front Oncol       Date:  2020-08-28       Impact factor: 6.244

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