KEY TAKEAWAYS
- The study aimed to investigate the detection rate of MYD88 L265P and CD79B Y196 mutations in cfDNA in the plasma patients with PCNSL.
- Researchers noticed that cfDNA detection of MYD88 L265P and CD79B Y196 mutations in PCNSL patients is limited for routine diagnostics, and ddPCR offers promise for challenging cases.
Primary central nervous system lymphoma (PCNSL) is a rare mature B-cell lymphoproliferative disease, often featuring MYD88 L265P and CD79B Y196 hotspot mutations. Diagnosis can prove challenging due to these characteristics.
Yujie Zhong and the team aimed to scrutinize the detection rate of MYD88 L265P and CD79B Y196 mutations in cell-free DNA (cfDNA) extracted from the plasma of PCNSL patients.
Researchers performed an inclusive analysis using digital droplet PCR (ddPCR) to determine the presence of MYD88 L265P and CD79B Y196 hotspot mutations in cfDNA extracted from plasma samples of 24 PCNSL patients with active disease. Corresponding tumor samples were available for 14 cases. Setting a stringent cut-off based on observed false positive rates in 8 healthy control samples, MYD88 L265P and CD79B Y196 mutation thresholds were established at 0.3% and 0.5%, respectively.
About MYD88 L265P and CD79B Y196 mutations, the study revealed detection in 9 out of 14 tumor biopsies (64%) and 2 out of 13 tumor biopsies (15%), respectively. In cfDNA samples, MYD88 L265P mutation was found in 3 out of 24 cases (12.5%), while CD79B Y196 mutation wasn’t detected in any of the 23 tested cfDNA samples. The combined analysis showed no improvement in the detection rate compared to individual mutations.
The study concluded that the low detection rate of MYD88 L265P and CD79B Y196 mutations in cfDNA in the plasma of PCNSL patients suggests its limited utility in routine diagnostics. However, the potential use of ddPCR for MYD88 L265P detection in cfDNA in challenging cases warrants consideration.
The study received no funds.
Source: https://pubmed.ncbi.nlm.nih.gov/38566053/
Zhong Y, Tan GW, Bult J, et al. (2024). “Detection of circulating tumor DNA in plasma of patients with primary CNS lymphoma by digital droplet PCR.” BMC Cancer. 2024 Apr 2;24(1):407. doi: 10.1186/s12885-024-12191-z. PMID: 38566053; PMCID: PMC10985975.
