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Case Study: Advanced Molecular Testing in DLBCL

NextEdge Admin

28 Jul 2024

2 min 43 sec

Genomics,lymphoma,leukemia,Fortis Hospitals

Patient Profile:

- Age/Gender: 48-year-old male

- Diagnosis:Diffuse Large B-Cell Lymphoma (DLBCL)

- History: Multiple lines of treatment, post-autotransplant, and post-CAR-T therapy

- Current Status: Development of new liver lesions

Challenge:

A traditional biopsy for Next-Generation Sequencing (NGS) based molecular testing was not feasible due to the unavailability of a suitable biopsy sample.

Innovative Approach:

For the first time in the country, a liquid biopsy based NGS was performed using circulating tumor DNA (ctDNA) isolated from peripheral blood. This approach is particularly beneficial in cases where a traditional biopsy is not possible.

Methodology:

- Technique: Liquid biopsy based NGS

- Sample: ctDNA from peripheral blood

- Panel: 95-gene panel designed and validated in-house

- Special Features: The panel categorizes based on new methylation classes and identifies rare poor-risk GCB subtypes by detecting enrichment of specific mutations within these classes.

Findings:

The ctDNA analysis conformed to the disease burden and revealed significant mutations in the following genes:

- TP53

- RNF213

- TNFAIP3

These mutations are associated with relapse/refractory conditions and contribute to an aggressive disease biology.

Conclusion:

This case represents a landmark achievement in India for using ctDNA in a clinical setting for DLBCL. The findings provided crucial insights into why the patient did not respond to previous treatments. This innovative molecular approach demonstrates the potential for improved diagnostic and therapeutic strategies in managing complex cases of DLBCL.

Call to Action:

It is time to embrace and integrate advanced molecular testing technologies. India is poised to lead in this field, ensuring that patients receive the most accurate and effective treatments available.

Acknowledgements

Dr. Rahul Bhargava

Dr. Shrinidhi Nathany

Fortis Health Care