Related Experiment Video
Updated: Jun 13, 2026
11:43
Advanced Animal Model of Colorectal Metastasis in Liver: Imaging Techniques and Properties of Metastatic Clones
Published on: November 30, 2016
13.2K
Multi-site clonality analysis uncovers pervasive heterogeneity across melanoma metastases
Roy Rabbie1,2, Naser Ansari-Pour3, Oliver Cast4
1Experimental Cancer Genetics, The Wellcome Sanger Institute, Hinxton, Cambridgeshire, UK.
Nature Communications
|August 29, 2020
Summary
Melanoma metastases diversify, with UV mutations forming the evolutionary trunk and APOBEC mutations branching off. Analyzing multiple samples reveals tumor heterogeneity, crucial for understanding melanoma spread.
Area of Science:
- Oncology
- Genetics
- Evolutionary Biology
Background:
- Metastatic melanoma has a poor prognosis despite current treatments.
- Understanding melanoma's evolutionary dynamics is key for improved patient management.
Purpose of the Study:
- To investigate the evolutionary diversification of melanoma metastases.
- To explore the role of mutation types in melanoma dissemination.
Main Methods:
- Whole-genome sequencing of 13 melanoma metastases from a treatment-naïve patient.
- Multi-sample analyses of metastases from seven additional patients.
- Analysis of cancer cell fraction estimates across multiple metastases.
Main Results:
- Evidence of diversification among metastatic lineages was observed.
- UV-induced mutations were prevalent in the evolutionary trunk, while APOBEC-associated mutations were found in branches.
- Lineage diversification was confirmed as a pervasive mode of melanoma dissemination across patients.
Conclusions:
- Joint analysis of multiple metastases reveals significant tumor heterogeneity.
- Inferring tumor heterogeneity from a single biopsy has limitations.
- Understanding metastatic evolution can inform melanoma patient management.
Related Concept Videos
02:21Cancers Originate from Somatic Mutations in a Single Cell
Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
02:21Cancers Originate from Somatic Mutations in a Single Cell
Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...