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Updated: Jul 7, 2026

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
Published on: April 11, 2016
Molecular oncology: current trends in diagnostics
Joel A Lefferts1, Claudine L Bartels, Gregory J Tsongalis
1Dartmouth Medical School, Department of Pathology, Dartmouth-Hitchcock Medical Center, One Medical Center Drive, Lebanon, NH 03756, USA.
Abstract:
Applications of molecular diagnostics to oncology have been slow to make their way to the clinical laboratory. While numerous genes and mutation spectra have been found to be involved in tumorigenesis, it is only recently that these findings begin to become useful in a clinical setting. Building on the technical knowledge obtained from molecular infectious disease testing, new instruments and assays have been developed to answer similar questions regarding qualitative, quantitative and genotyping issues. In this manuscript we describe two current examples of clinical molecular diagnostic applications, the assessment of BCR-ABL in chronic myelogenous leukemia patients and the detection of tumor cells in the sentinel lymph nodes of breast cancer patients, to demonstrate the role of molecular techniques in a routine clinical setting.
Insights
Molecular diagnostics are now clinically useful in oncology, aiding in cancer diagnosis and patient management. This study highlights BCR-ABL testing for chronic myelogenous leukemia and sentinel lymph node analysis for breast cancer.
Area of Science:
- Clinical Molecular Diagnostics
- Oncology
- Cancer Genomics
Background:
- Molecular diagnostics in oncology have lagged behind research discoveries.
- Technical advancements from infectious disease testing enable new cancer applications.
- Recent progress facilitates clinical utility of molecular findings in tumorigenesis.
Purpose of the Study:
- To demonstrate the clinical utility of molecular diagnostic techniques in routine settings.
- To showcase advancements in molecular assays for oncology.
- To illustrate the application of molecular diagnostics in patient care.
Main Methods:
- Utilized established molecular techniques adapted from infectious disease diagnostics.
- Developed and applied qualitative, quantitative, and genotyping assays.
- Examined two specific clinical cases: BCR-ABL assessment and sentinel lymph node analysis.
Main Results:
- Successfully applied molecular diagnostics to assess BCR-ABL in chronic myelogenous leukemia.
- Demonstrated effective detection of tumor cells in sentinel lymph nodes of breast cancer patients.
- Validated the role of molecular techniques in clinical decision-making.
Conclusions:
- Molecular diagnostics are increasingly valuable in clinical oncology.
- Specific applications like BCR-ABL and sentinel lymph node analysis show significant clinical impact.
- Molecular techniques are transitioning effectively into routine clinical practice for cancer management.
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