Literature DB >> 24797823

Enabling a genetically informed approach to cancer medicine: a retrospective evaluation of the impact of comprehensive tumor profiling using a targeted next-generation sequencing panel.

Douglas B Johnson1, Kimberly H Dahlman1, Jared Knol1, Jill Gilbert1, Igor Puzanov1, Julie Means-Powell1, Justin M Balko1, Christine M Lovly1, Barbara A Murphy1, Laura W Goff1, Vandana G Abramson1, Marta A Crispens1, Ingrid A Mayer1, Jordan D Berlin1, Leora Horn1, Vicki L Keedy1, Nishitha M Reddy1, Carlos L Arteaga1, Jeffrey A Sosman1, William Pao2.   

Abstract

BACKGROUND: Oncogenic genetic alterations "drive" neoplastic cell proliferation. Small molecule inhibitors and antibodies are being developed that target an increasing number of these altered gene products. Next-generation sequencing (NGS) is a powerful tool to identify tumor-specific genetic changes. To determine the clinical impact of extensive genetic analysis, we reviewed our experience using a targeted NGS platform (FoundationOne) in advanced cancer patients. PATIENTS AND METHODS: We retrospectively assessed demographics, NGS results, and therapies received for patients undergoing targeted NGS (exonic sequencing of 236 genes and selective intronic sequencing from 19 genes) between April 2012 and August 2013. Coprimary endpoints were the percentage of patients with targeted therapy options uncovered by mutational profiling and the percentage who received genotype-directed therapy.
RESULTS: Samples from 103 patients were tested, most frequently breast carcinoma (26%), head and neck cancers (23%), and melanoma (10%). Most patients (83%) were found to harbor potentially actionable genetic alterations, involving cell-cycle regulation (44%), phosphatidylinositol 3-kinase-AKT (31%), and mitogen-activated protein kinase (19%) pathways. With median follow-up of 4.1 months, 21% received genotype-directed treatments, most in clinical trials (61%), leading to significant benefit in several cases. The most common reasons for not receiving genotype-directed therapy were selection of standard therapy (35%) and clinical deterioration (13%).
CONCLUSION: Mutational profiling using a targeted NGS panel identified potentially actionable alterations in a majority of advanced cancer patients. The assay identified additional therapeutic options and facilitated clinical trial enrollment. As time progresses, NGS results will be used to guide therapy in an increasing proportion of patients. ©AlphaMed Press.

Entities:  

Keywords:  Cancer; Genotype; Molecular targeted therapy; Mutation; Next-generation sequencing; Precision medicine

Mesh：

Substances：

Year:  2014        PMID： 24797823      PMCID： PMC4041676          DOI： 10.1634/theoncologist.2014-0011

Source DB:  PubMed          Journal:  Oncologist        ISSN： 1083-7159


  33 in total

1.  Analytical performance of a real-time PCR-based assay for V600 mutations in the BRAF gene, used as the companion diagnostic test for the novel BRAF inhibitor vemurafenib in metastatic melanoma.

Authors:  Harkanwal Halait; Kelli Demartin; Sweta Shah; Stephen Soviero; Rachel Langland; Suzanne Cheng; Grantland Hillman; Lin Wu; H Jeffrey Lawrence
Journal:  Diagn Mol Pathol       Date:  2012-03

2.  MEK162 for patients with advanced melanoma harbouring NRAS or Val600 BRAF mutations: a non-randomised, open-label phase 2 study.

Authors:  Paolo A Ascierto; Dirk Schadendorf; Carola Berking; Sanjiv S Agarwala; Carla Ml van Herpen; Paola Queirolo; Christian U Blank; Axel Hauschild; J Thaddeus Beck; Annie St-Pierre; Faiz Niazi; Simon Wandel; Malte Peters; Angela Zubel; Reinhard Dummer
Journal:  Lancet Oncol       Date:  2013-02-13       Impact factor: 41.316

3.  Identification of new ALK and RET gene fusions from colorectal and lung cancer biopsies.

Authors:  Doron Lipson; Marzia Capelletti; Roman Yelensky; Geoff Otto; Alex Parker; Mirna Jarosz; John A Curran; Sohail Balasubramanian; Troy Bloom; Kristina W Brennan; Amy Donahue; Sean R Downing; Garrett M Frampton; Lazaro Garcia; Frank Juhn; Kathy C Mitchell; Emily White; Jared White; Zac Zwirko; Tamar Peretz; Hovav Nechushtan; Lior Soussan-Gutman; Jhingook Kim; Hidefumi Sasaki; Hyeong Ryul Kim; Seung-il Park; Dalia Ercan; Christine E Sheehan; Jeffrey S Ross; Maureen T Cronin; Pasi A Jänne; Philip J Stephens
Journal:  Nat Med       Date:  2012-02-12       Impact factor: 53.440

4.  Response to Cabozantinib in patients with RET fusion-positive lung adenocarcinomas.

Authors:  Alexander Drilon; Lu Wang; Adnan Hasanovic; Yoshiyuki Suehara; Doron Lipson; Phil Stephens; Jeffrey Ross; Vincent Miller; Michelle Ginsberg; Maureen F Zakowski; Mark G Kris; Marc Ladanyi; Naiyer Rizvi
Journal:  Cancer Discov       Date:  2013-03-26       Impact factor: 39.397

5.  Targeting p53 in vivo: a first-in-human study with p53-targeting compound APR-246 in refractory hematologic malignancies and prostate cancer.

Authors:  Sören Lehmann; Vladimir J N Bykov; Dina Ali; Ove Andrén; Honar Cherif; Ulf Tidefelt; Bertil Uggla; Jeffrey Yachnin; Gunnar Juliusson; Ali Moshfegh; Christer Paul; Klas G Wiman; Per-Ola Andersson
Journal:  J Clin Oncol       Date:  2012-09-10       Impact factor: 44.544

6.  Selumetinib plus docetaxel for KRAS-mutant advanced non-small-cell lung cancer: a randomised, multicentre, placebo-controlled, phase 2 study.

Authors:  Pasi A Jänne; Alice T Shaw; José Rodrigues Pereira; Gaëlle Jeannin; Johan Vansteenkiste; Carlos Barrios; Fabio Andre Franke; Lynda Grinsted; Victoria Zazulina; Paul Smith; Ian Smith; Lucio Crinò
Journal:  Lancet Oncol       Date:  2012-11-28       Impact factor: 41.316

7.  Genome sequencing identifies a basis for everolimus sensitivity.

Authors:  Gopa Iyer; Aphrothiti J Hanrahan; Matthew I Milowsky; Hikmat Al-Ahmadie; Sasinya N Scott; Manickam Janakiraman; Mono Pirun; Chris Sander; Nicholas D Socci; Irina Ostrovnaya; Agnes Viale; Adriana Heguy; Luke Peng; Timothy A Chan; Bernard Bochner; Dean F Bajorin; Michael F Berger; Barry S Taylor; David B Solit
Journal:  Science       Date:  2012-08-23       Impact factor: 47.728

8.  Phase II trial of the CDK4 inhibitor PD0332991 in patients with advanced CDK4-amplified well-differentiated or dedifferentiated liposarcoma.

Authors:  Mark A Dickson; William D Tap; Mary Louise Keohan; Sandra P D'Angelo; Mrinal M Gounder; Cristina R Antonescu; Jonathan Landa; Li-Xuan Qin; Dustin D Rathbone; Mercedes M Condy; Yelena Ustoyev; Aimee M Crago; Samuel Singer; Gary K Schwartz
Journal:  J Clin Oncol       Date:  2013-04-08       Impact factor: 44.544

9.  High-throughput detection of actionable genomic alterations in clinical tumor samples by targeted, massively parallel sequencing.

Authors:  Nikhil Wagle; Michael F Berger; Matthew J Davis; Brendan Blumenstiel; Matthew Defelice; Panisa Pochanard; Matthew Ducar; Paul Van Hummelen; Laura E Macconaill; William C Hahn; Matthew Meyerson; Stacey B Gabriel; Levi A Garraway
Journal:  Cancer Discov       Date:  2011-11-07       Impact factor: 39.397

10.  BRAF(L597) mutations in melanoma are associated with sensitivity to MEK inhibitors.

Authors:  Kimberly Brown Dahlman; Junfeng Xia; Katherine Hutchinson; Charles Ng; Donald Hucks; Peilin Jia; Mohammad Atefi; Zengliu Su; Suzanne Branch; Pamela L Lyle; Donna J Hicks; Viviana Bozon; John A Glaspy; Neal Rosen; David B Solit; James L Netterville; Cindy L Vnencak-Jones; Jeffrey A Sosman; Antoni Ribas; Zhongming Zhao; William Pao
Journal:  Cancer Discov       Date:  2012-07-13       Impact factor: 39.397
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  58 in total

1.  Feasibility of Targeting PIK3CA Mutations in Head and Neck Squamous Cell Carcinoma.

Authors:  Julie A Theurer; William Stecho; John Yoo; Keith Kwan; Bret Wehrli; Vimla Harry; Morgan Black; Nicole Pinto; Eric Winquist; David Palma; Suzanne Richter; John W Barrett; S Danielle MacNeil; Kevin Fung; Christopher J Howlett; Anthony C Nichols
Journal:  Pathol Oncol Res       Date:  2015-08-14       Impact factor: 3.201

2.  Comprehensive Genomic Profiling Aids in Distinguishing Metastatic Recurrence from Second Primary Cancers.

Authors:  Benjamin A Weinberg; Kyle Gowen; Thomas K Lee; Sai-Hong Ignatius Ou; Robert Bristow; Lauren Krill; M Isabel Almira-Suarez; Siraj M Ali; Vincent A Miller; Stephen V Liu; Samuel J Klempner
Journal:  Oncologist       Date:  2017-02-13

3.  Clinical impact of targeted amplicon sequencing for meningioma as a practical clinical-sequencing system.

Authors:  Sayaka Yuzawa; Hiroshi Nishihara; Shigeru Yamaguchi; Hiromi Mohri; Lei Wang; Taichi Kimura; Masumi Tsuda; Mishie Tanino; Hiroyuki Kobayashi; Shunsuke Terasaka; Kiyohiro Houkin; Norihiro Sato; Shinya Tanaka
Journal:  Mod Pathol       Date:  2016-04-22       Impact factor: 7.842

4.  Development and validation of the JAX Cancer Treatment Profile™ for detection of clinically actionable mutations in solid tumors.

Authors:  Guruprasad Ananda; Susan Mockus; Micaela Lundquist; Vanessa Spotlow; Al Simons; Talia Mitchell; Grace Stafford; Vivek Philip; Timothy Stearns; Anuj Srivastava; Mary Barter; Lucy Rowe; Joan Malcolm; Carol Bult; Radha Krishna Murthy Karuturi; Karen Rasmussen; Douglas Hinerfeld
Journal:  Exp Mol Pathol       Date:  2015-01-03       Impact factor: 3.362

5.  Genomic Alterations in Circulating Tumor DNA from Diverse Cancer Patients Identified by Next-Generation Sequencing.

Authors:  Maria Schwaederle; Ranajoy Chattopadhyay; Shumei Kato; Paul T Fanta; Kimberly C Banks; In Sil Choi; David E Piccioni; Sadakatsu Ikeda; AmirAli Talasaz; Richard B Lanman; Lyudmila Bazhenova; Razelle Kurzrock
Journal:  Cancer Res       Date:  2017-08-14       Impact factor: 12.701

Review 6.  Pancreatic cancer: from state-of-the-art treatments to promising novel therapies.

Authors:  Ignacio Garrido-Laguna; Manuel Hidalgo
Journal:  Nat Rev Clin Oncol       Date:  2015-03-31       Impact factor: 66.675

7.  Institutional implementation of clinical tumor profiling on an unselected cancer population.

Authors:  Lynette M Sholl; Khanh Do; Priyanka Shivdasani; Ethan Cerami; Adrian M Dubuc; Frank C Kuo; Elizabeth P Garcia; Yonghui Jia; Phani Davineni; Ryan P Abo; Trevor J Pugh; Paul van Hummelen; Aaron R Thorner; Matthew Ducar; Alice H Berger; Mizuki Nishino; Katherine A Janeway; Alanna Church; Marian Harris; Lauren L Ritterhouse; Joshua D Campbell; Vanesa Rojas-Rudilla; Azra H Ligon; Shakti Ramkissoon; James M Cleary; Ursula Matulonis; Geoffrey R Oxnard; Richard Chao; Vanessa Tassell; James Christensen; William C Hahn; Philip W Kantoff; David J Kwiatkowski; Bruce E Johnson; Matthew Meyerson; Levi A Garraway; Geoffrey I Shapiro; Barrett J Rollins; Neal I Lindeman; Laura E MacConaill
Journal:  JCI Insight       Date:  2016-11-17

8.  Enabling a genetically informed approach to cancer medicine: evaluation of the impact of comprehensive tumor sequencing.

Authors:  Elizabeth J Davis; Douglas B Johnson
Journal:  Per Med       Date:  2017-05-05       Impact factor: 2.512

Review 9.  The rise of genomic profiling in ovarian cancer.

Authors:  Rebecca A Previs; Anil K Sood; Gordon B Mills; Shannon N Westin
Journal:  Expert Rev Mol Diagn       Date:  2016-12       Impact factor: 5.225

10.  Widely metastatic atypical pituitary adenoma with mTOR pathway STK11(F298L) mutation treated with everolimus therapy.

Authors:  Laura E Donovan; Ashley V Arnal; Shih-Hsiu Wang; Yazmin Odia
Journal:  CNS Oncol       Date:  2016-09-12
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