Case Reports:

This article has an addendum. Addendum in: Oncotarget. 2022; 13:1174-1174.

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

Kevin Drenner, Gargi D. Basu, Laurie J. Goodman, Audrey A. Ozols, Janine R. LoBello, Thomas Royce, Michael S. Gordon, Erkut H. Borazanci, Margaux A. Steinbach, Jeffrey Trent and Sunil Sharma _

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Oncotarget. 2021; 12:1836-1847. https://doi.org/10.18632/oncotarget.28046

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Kevin Drenner1,*, Gargi D. Basu2,*, Laurie J. Goodman2, Audrey A. Ozols2, Janine R. LoBello2, Thomas Royce2, Michael S. Gordon3, Erkut H. Borazanci3, Margaux A. Steinbach3, Jeffrey Trent1 and Sunil Sharma1

1 Translational Genomic Research Institute (Tgen), Phoenix, AZ 85004, USA

2 Ashion Analytics, LLC, Phoenix, AZ 85004, USA

3 HonorHealth Research Institute, Scottsdale, AZ 85258, USA

* These authors contributed equally to this work

Correspondence to:

Sunil Sharma, email: [email protected]

Keywords: whole exome sequencing; RNA sequencing; precision medicine; rare mutations; genomic alteration

Received: April 12, 2021     Accepted: July 27, 2021     Published: August 31, 2021

Copyright: © 2021 Drenner et al. This is an open access article distributed under the terms of the Creative Commons Attribution License (CC BY 3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.


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.

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