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Modeling Brain Metastases Through Intracranial Injection and Magnetic Resonance Imaging
Published on: June 7, 2020
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Genomic and Transcriptomic Profiling of Brain Metastases.
Christopher P Wardell1,2, Emilie Darrigues2,3, Annick De Loose3
1Department of Biomedical Informatics, University of Arkansas for Medical Sciences, 4301 West Markham Street, Little Rock, AR 72205, USA.
Cancers
|November 27, 2021
Summary
Brain metastases (BM) are common, with lung, melanoma, and breast cancers being frequent origins. Multi-omics profiling identified a novel MCL1 gene event and distinct molecular subtypes, but survival did not correlate with molecular profiles.
Area of Science:
- Oncology
- Genomics
- Molecular Biology
Background:
- Brain metastases (BM) represent a significant clinical challenge, being the most common intracranial tumors in adults.
- Multi-omics approaches are crucial for elucidating the molecular underpinnings of cancer progression and identifying prognostic markers.
Purpose of the Study:
- To profile brain metastases using genomics and transcriptomics.
- To correlate molecular characteristics with clinical parameters and patient survival.
- To identify potential drivers of brain metastatic progression.
Main Methods:
- Genomic and transcriptomic profiling of 130 brain metastases.
- Analysis of mutational signatures and copy number alterations.
- Unsupervised hierarchical clustering of transcriptional data.
- Correlation of molecular profiles with clinical data, including tumor origin and survival.
Main Results:
- Lung (40%), melanoma (21%), and breast (15%) cancers were the most common origins of BM.
- Melanoma and lung BMs exhibited higher frequencies of deleterious mutations.
- A novel copy number alteration involving the MCL1 gene was identified in 75% of samples.
- Transcriptional analysis revealed four distinct clusters, with melanoma samples forming a unique cluster.
- Molecular profiles did not correlate with patient survival; however, race and radiation treatment were associated with survival outcomes.
Conclusions:
- Multi-omics profiling provides insights into the molecular heterogeneity of brain metastases.
- The MCL1 gene alteration may play a role in promoting brain metastasis.
- Sociodemographic and clinical factors warrant further investigation in BM cohorts for improved understanding and treatment.
