The value of comprehensive genomic sequencing to maximize the identification of clinically actionable alterations in advanced cancer patients: a case series.

Autor: Drenner K; Translational Genomic Research Institute (Tgen), Phoenix, AZ 85004, USA.; These authors contributed equally to this work., Basu GD; Ashion Analytics, LLC, Phoenix, AZ 85004, USA.; These authors contributed equally to this work., Goodman LJ; Ashion Analytics, LLC, Phoenix, AZ 85004, USA., Ozols AA; Ashion Analytics, LLC, Phoenix, AZ 85004, USA., LoBello JR; Ashion Analytics, LLC, Phoenix, AZ 85004, USA., Royce T; Ashion Analytics, LLC, Phoenix, AZ 85004, USA., Gordon MS; HonorHealth Research Institute, Scottsdale, AZ 85258, USA., Borazanci EH; HonorHealth Research Institute, Scottsdale, AZ 85258, USA., Steinbach MA; HonorHealth Research Institute, Scottsdale, AZ 85258, USA., Trent J; Translational Genomic Research Institute (Tgen), Phoenix, AZ 85004, USA., Sharma S; Translational Genomic Research Institute (Tgen), Phoenix, AZ 85004, USA.
Jazyk: angličtina
Zdroj: Oncotarget [Oncotarget] 2021 Aug 31; Vol. 12 (18), pp. 1836-1847. Date of Electronic Publication: 2021 Aug 31 (Print Publication: 2021).
DOI: 10.18632/oncotarget.28046
Abstrakt: Purpose: We present seven cases of advanced cancer patients who initially underwent tumor testing utilizing smaller, panel-based tests, followed by a variety of therapeutic treatments which ultimately resulted in progression of their disease. These cases demonstrate the value of utilizing WES/RNA seq and characterization following disease progression in these patients and the determination of clinically targetable alterations as well as acquired resistance mutations.
Materials and Methods: All patients are part of an IRB approved observational study. WES and RNA sequencing were performed, using GEM ExTra ® on tumor and blood samples obtained during routine clinical care. To accurately determine somatic versus germline alterations the test was performed with paired normal testing from peripheral blood.
Results: The presented cases demonstrate the clinical impact of actionable findings uncovered using GEM ExTra ® in patients with advanced disease who failed many rounds of treatment. Unique alterations were identified resulting in newly identified potential targeted therapies, mechanisms of resistance, and variation in the genomic characterization of the primary versus the metastatic tumor.
Conclusions: Taken together our results demonstrate that GEM ExTra ® maximizes detection of actionable mutations, thus allowing for appropriate treatment selection for patients harboring both common and rare genomic alterations.
Competing Interests: CONFLICTS OF INTEREST Gargi D. Basu, Laurie J. Goodman, Audrey A. Ozols, Janine R. LoBello, and Thomas Royce authors have a financial relationship as employees of Ashion Analytics. Kevin Drenner, Jeffrey Trent, and Sunil Sharma authors have a financial relationship as employees of Translational Genomic Research Institute. Michael S. Gordon, Erkut H. Borazanci, and Margaux A. Steinbach have a financial relationship as employees of HonorHealth Research Institute.
(Copyright: © 2021 Drenner et al.)
Databáze: MEDLINE