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Importance of Early Next-Generation Sequencing in Microsatellite Unstable Colon Cancer With a High Tumor Mutation

Sethi Ashish1, Moses Raj2

  • 1Medical Oncology, Allegheny Health Network, Pittsburgh, USA.

Cureus
|April 11, 2022
PubMed

Insights

High tumor mutation burden (TMB) and microsatellite instability (MSI) in colon cancer reduce chemotherapy effectiveness. Early next-generation sequencing (NGS) is crucial for timely targeted therapy, improving patient outcomes.

Area of Science:

  • Oncology
  • Genomics

Background:

  • Colon cancer is a leading cause of cancer mortality.
  • Microsatellite instability (MSI) or deficient mismatch repair proteins and high tumor mutation burden (TMB) are associated with poor response to chemotherapy in colon cancer.

Observation:

  • This case report details a patient with colon cancer exhibiting high TMB and MSI.
  • The patient's colon cancer responded poorly to initial treatment.

Findings:

  • A delay in obtaining next-generation sequencing (NGS) results impacted treatment decisions.
  • Early NGS testing in metastatic colon cancer is vital for identifying actionable mutations.

Implications:

  • Timely NGS testing can significantly improve the overall prognosis for patients with metastatic colon cancer.
  • Personalized treatment strategies based on genomic profiling are essential for managing complex colon cancer cases.
Keywords:
brca gene mutation - predominantly brca2colon cancerkeynote 177metastatic colorectal cancermicrosatellite instability (msi)msi highnext-generation sequencing (ngs)olympia trialpolo trialtumor mutation burden

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