LQCL2514 - CMLE - Liquid Biopsy in Cancer Diagnosis and Management-LQCL2514

LQCL2514 - Educational Activity

Pdf Summary

The document focuses on the application of liquid biopsy in cancer diagnosis and management, particularly in the context of molecular pathology. It outlines learning objectives that include understanding the biological mechanisms of circulating tumor DNA (ctDNA) release, the clinical applications of ctDNA-based liquid biopsy, and comparing its advantages and limitations with traditional tissue biopsy. <br /><br />The document presents a case study of a 60-year-old male with relapsed/refractory diffuse large B-cell lymphoma (DLBCL). The oncologist utilized liquid biopsy to analyze ctDNA from the patient’s plasma to identify genetic alterations associated with lymphoma. Pre-analytical issues, like incorrect blood collection tube usage, were highlighted as potential factors compromising ctDNA analysis reliability. The resolution involved obtaining a new sample using appropriate methods, revealing mutations such as MYD88 L265P and TP53, guiding a change in the treatment plan.<br /><br />Liquid biopsy is described as a minimally invasive method to analyze ctDNA, allowing real-time insights into tumor genetics, monitoring minimal residual disease (MRD), and identifying treatment resistance. Droplet digital PCR (ddPCR) and next-generation sequencing (NGS) are key technologies used, offering high sensitivity and broad genetic profiling. Quality control and appropriate sample handling are emphasized for accurate results. Limitations include variability in ctDNA shedding and challenges in detecting low-frequency mutations.<br /><br />Despite these challenges, the technology allows for better cancer management through improved monitoring and treatment decisions. The document underscores the importance of laboratory protocols and clinician collaboration for effective ctDNA analysis, ultimately benefiting patients with more precise and timely therapeutic interventions.

Keywords

liquid biopsy

cancer diagnosis

molecular pathology

circulating tumor DNA

ctDNA analysis

diffuse large B-cell lymphoma

droplet digital PCR

next-generation sequencing

treatment resistance

minimal residual disease