Clinical, Pathological and Molecular Insights on KRAS, NRAS, BRAF, PIK3CA and TP53 Mutations in Metastatic Colorectal...

Area of Science:

• Oncology
• Molecular Biology
• Genetics

Background:

• Metastatic colorectal cancer (mCRC) is frequently associated with RAS, BRAF, PIK3CA, and TP53 gene mutations.
• Limited genetic data exists for mCRC patients in Eastern Europe, particularly Romania.

Purpose of the Study:

• To investigate the frequency, distribution, and clinicopathological correlations of key mutations (RAS, BRAF, PIK3CA, TP53) in mCRC patients from Northeastern Romania.
• To provide insights into genetic profiles specific to an underrepresented Eastern European population.

Main Methods:

• Retrospective analysis of 104 mCRC patients from Northeastern Romania.
• Assessment of mutations in RAS, BRAF, PIK3CA, and TP53 genes.
• Correlation analysis of mutation status with clinicopathological features and patient history.

Main Results:

• TP53 (73.1%) was the most frequent mutation, followed by KRAS (45.2%) and PIK3CA (6.7%).
• KRAS mutations correlated with no prior gastrointestinal cancer history and were linked to female gender and absence of lymph node invasion when in exon 3.
• PIK3CA mutations were associated with the absence of lymph node invasion. TP53 mutations showed associations with specific KRAS mutations, ulcerated histopathology, and G2 differentiation.

Conclusions:

• This study provides novel genetic mutation data for mCRC patients in Northeastern Romania, an underrepresented region.
• Findings highlight population-specific genetic profiles and facilitate comparisons with other ethnic groups.
• The results can aid in developing genetic testing strategies in resource-limited settings.