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Updated: May 8, 2026

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Published on: November 5, 2019

A diagnostic algorithm to identify paired tumors with clonal origin.

Szilárd Nemes¹, Anna Danielsson, Toshima Z Parris

¹Division of Clinical Cancer Epidemiology, Department of Oncology, Institute of Clinical Sciences, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden; Regional Cancer Centre (West), Western Sweden Health Care Region, Sahlgrenska University Hospital, Gothenburg, Sweden.

Genes, Chromosomes & Cancer

|September 4, 2013

Summary

This summary is machine-generated.

Standardized clonality testing for paired tumors is lacking. This study introduces a genomic similarity index and a permutation test to assess if secondary tumors originate from a primary tumor, aiding cancer research.

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Testing Targeted Therapies in Cancer using Structural DNA Alteration Analysis and Patient-Derived Xenografts

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Published on: July 25, 2020

Area of Science:

Oncology
Genomics
Bioinformatics

Background:

Standardized methods for clonality testing of paired tumors are currently unavailable.
Tumors accumulate specific chromosomal abnormalities during development, with secondary tumors potentially inheriting these and random changes.

Purpose of the Study:

To develop and validate a method for assessing the clonal origin of paired tumors.
To provide a standardized approach for evaluating genomic similarities between primary and secondary tumors.

Main Methods:

Development of an intuitive index for genomic similarity ranging from 0 (different) to 1 (identical).
Implementation of a permutation-based null-hypothesis procedure to compare tumor similarity against random pairings.
Demonstration of the procedure using two publicly available tumor datasets.

Main Results:

The proposed method allows for the quantitative assessment of genomic similarity between paired tumors.
The permutation test provides a statistical framework to determine if observed similarity suggests clonal origin.
The study highlights the complexities involved in accurate tumor clonality testing.

Conclusions:

The developed index and procedure offer a practical blueprint for researchers to test genomic similarities in paired tumors.
This approach can help differentiate between primary tumors and metastases based on genomic profiles.
Standardized clonality testing is crucial for advancing cancer research and treatment strategies.