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Updated: Mar 2, 2026

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
Published on: October 18, 2013
Treatment inferred from mutations identified using massive parallel sequencing leads to clinical benefit in some
Aviad Zick1, Tamar Peretz, Michal Lotem
1Sharett Institute of Oncology Leslie and Michael Gaffin Center for Oncology, Departments of Oncology and Neurology, Hebrew University-Hadassah Medical Center Department of Pediatrics, Hadassah Medical Center, Division of Pediatric Hematology and Oncology Lautenberg Center for Immunology, IMRIC, The Hebrew University-Hadassah Medical School Department of Pathology, Hebrew University-Hadassah Medical Center, Jerusalem, Israel.
Abstract:
Molecular portraits of numerous tumors have flooded oncologists with vast amounts of data. In parallel, effective inhibitors of central pathways have shown great clinical benefit. Together, this promises potential clinical benefits to otherwise end-stage cancer patients. Here, we report a clinical service offering mutation detection of archived samples using the ion Ampliseq cancer panel coupled with clinical consultation.A multidisciplinary think tank consisting of oncologists, molecular-biologists, genetic counselors, and pathologists discussed 67 heavily pretreated, advanced cancer patient cases, taking into account mutations identified using ion Ampliseq cancer panel, medical history, and relevant literature.The team generated a treatment plan, targeting specific mutations, for 41 out of 64 cases. Three patients died before results were available. For 32 patients, the treating oncologists chose not to include the panel recommendation in the treatment plan for various reasons. Nine patients were treated as recommended by the panel, 5 with clinical benefit, and 4 with disease progression.This study suggests that routine use of massive parallel tumor sequencing is feasible and can judiciously affect treatment decisions when coupled with multidisciplinary team-based decision making. Administration of personalized based therapies at an earlier stage of disease, expansion of genetic alterations examined, and increased availability of targeted therapies may lead to further improvement in the clinical outcome of metastatic cancer patients.
Insights
Molecular tumor profiling using the ion Ampliseq cancer panel is feasible for advanced cancer patients. Multidisciplinary team-based decisions can guide personalized treatment strategies, impacting clinical outcomes.
Area of Science:
- Oncology
- Genomics
- Clinical Pathology
Background:
- Vast amounts of tumor molecular data are available.
- Targeted pathway inhibitors offer clinical benefits.
- Personalized medicine holds promise for advanced cancer.
Purpose of the Study:
- To report on a clinical service for tumor mutation detection.
- To assess the impact of a multidisciplinary team approach on treatment decisions.
Main Methods:
- Utilized the ion Ampliseq cancer panel for mutation detection in archived tumor samples.
- A multidisciplinary team discussed 67 advanced cancer cases.
- Treatment plans were generated based on mutations, medical history, and literature.
Main Results:
- Treatment plans targeting specific mutations were generated for 41 out of 64 assessable cases.
- Nine patients received panel-recommended treatment; 5 showed clinical benefit, 4 had disease progression.
- Oncologists did not follow panel recommendations for 32 patients.
Conclusions:
- Routine massive parallel tumor sequencing is feasible in a clinical setting.
- Multidisciplinary team-based decision-making can influence treatment choices.
- Personalized therapies may improve outcomes for metastatic cancer patients.
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