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Cancers Originate from Somatic Mutations in a Single Cell

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Comparative Lesions Analysis Through a Targeted Sequencing Approach

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Published on: November 5, 2019

Somatic mutation panels: Time to clear their names.

Amy M Trottier¹, Marcela Cavalcante de Andrade Silva², Zejuan Li³

¹Section of Hematology/Oncology, Department of Medicine, Comprehensive Cancer Center, The University of Chicago, 5841 S. Maryland Ave, MC 2115, Chicago, IL, 60637 United States.

Cancer Genetics

|May 19, 2019

Summary

Next-generation sequencing tumor panels can be misleadingly called "somatic" panels. This review clarifies differentiating germline DNA, tumor somatic mutations, and clonal hematopoiesis for accurate molecular profiling.

Keywords:

Cancer Clonal hematopoiesis Germline predisposition Germline variant Next generation sequencing Somatic variant

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Published on: April 11, 2016

Area of Science:

Genomics
Oncology
Molecular Diagnostics

Background:

Next-generation sequencing (NGS) technologies enable comprehensive tumor molecular profiling via panel-based testing.
Current terminology, referring to these as 'somatic' panels, is imprecise.
Tumor samples contain both germline DNA and somatic mutations, complicated by potential contamination from blood exhibiting clonal hematopoiesis.

Purpose of the Study:

To address the challenges in interpreting results from tumor-based DNA sequencing panels.
To differentiate between germline variants, tumor-specific somatic mutations, and clonal hematopoiesis.
To highlight the clinical significance of distinguishing these variant types.

Main Methods:

Review of current literature and best practices in molecular tumor profiling.
Analysis of common pitfalls in interpreting NGS panel data.
Discussion of methodologies for variant classification.

Main Results:

The term 'somatic panel' is inaccurate as tumor samples inherently contain germline DNA.
Clonal hematopoiesis in contaminating blood cells can be mistaken for tumor mutations.
Distinguishing germline, somatic, and clonal hematopoiesis variants is crucial for accurate diagnosis and treatment.

Conclusions:

Accurate interpretation of NGS tumor panel results requires careful differentiation of variant origins.
Understanding the distinction between germline, somatic, and clonal hematopoiesis is essential for clinical decision-making.
Standardized terminology and interpretation guidelines are needed for molecular tumor profiling.