BRAFV600E/pTERT double mutated papillary thyroid cancers exhibit immune gene suppression
2024

Immune Gene Suppression in Double Mutated Papillary Thyroid Cancers

Sample size: 147 publication 10 minutes Evidence: moderate

Author Information

Author(s): Ana-Maria Sigarteu Chindris, Michael Rivera, Yaohua Ma, Asha Nair, Yi Liu, Xue Wang, Brian M. Necela, Jennifer M. Kachergus, John D. Casler, Christopher Brett, Ana M. Rivas Mejia, Victor J. Bernet, John A. Copland III, Keith L. Knutson, E. Aubrey Thompson, Robert C. Smallridge

Primary Institution: Mayo Clinic

Hypothesis

This study aims to decipher the relationship between BRAF and pTERT mutations and immune gene dysregulation in papillary thyroid cancer.

Conclusion

The study reveals a novel link between TERT and the immune system, suggesting that the presence of both BRAF and pTERT mutations leads to immune suppression in papillary thyroid cancer.

Supporting Evidence

  • 40 immune transcripts were differentially expressed in BRAFmutpTERTmut vs BRAFmutpTERT wildtype.
  • Validation analysis using 444 samples from TCGA yielded similar results.
  • BRAFmutpTERTwt tumors had higher stromal lymphocyte infiltration compared to BRAFwtpTERTwt tumors.

Takeaway

This study found that certain mutations in thyroid cancer can make the immune system less effective at fighting the cancer.

Methodology

The study analyzed immune gene expression in tumor samples using the NanoString nCounter® PanCancer Immune Profiling Panel.

Potential Biases

Potential biases may arise from the differences in sample processing and methodology between the Mayo Clinic and TCGA cohorts.

Limitations

The study's findings are based on a limited number of double mutant samples, which may affect the statistical power.

Participant Demographics

The cohort included 107 females and 40 males with a median age of 50.3 years.

Statistical Information

P-Value

p<0.05

Statistical Significance

p<0.05

Digital Object Identifier (DOI)

10.3389/fendo.2024.1440722

Want to read the original?

Access the complete publication on the publisher's website

View Original Publication