Abstract
Although next-generation sequencing (NGS) data on lymphomas require further validation before being implemented in daily practice, the clinical application of NGS can be considered right around the corner. The aim of our study was to validate an NGS lymphoid panel for tissue and liquid biopsy with the most common types of non-Hodgkin’s lymphoma [follicular lymphoma (FL) and diffuse large B-cell lymphoma (DLBCL)]. In this series, 372 somatic alterations were detected in 93.6% (44/47) of the patients through tissue biopsy. In FL, we identified 93 somatic alterations, with a median of 7.4 mutations per sample. In DLBCL, we detected 279 somatic variants with a median of 8.6 mutations (range 0–35). In 92% (24/26) of the cases, we were able to detect some variant in the circulating tumor DNA. We detected a total of 386 variants; 63.7% were detected in both types of samples, 13.2% were detected only in the circulating tumor DNA, and 23% were detected only in the tissue biopsy. We found a correlation between the number of circulating tumor DNA mutations, advanced stage, and bulky disease. The genetic alterations detected in this panel were consistent with those previously described at diagnosis. The liquid biopsy sample is therefore a complementary tool that can provide new genetic information, even in cases where a solid biopsy cannot be performed or an insufficient sample was obtained. In summary, we describe and analyze in this study the findings and difficulties encountered when incorporating liquid biopsy into clinical practice in non-Hodgkin’s lymphoma at diagnosis.
Highlights
Next-generation sequencing (NGS) data on lymphomas require further validation before being implemented in daily practice, the clinical application of next-generation sequencing (NGS) can be considered right around the corner
When we compared the mutations in follicular lymphoma (FL) (n = 15) versus those in diffuse large B-cell lymphoma (DLBCL) (n = 32), we found that the variants in the following genes were more frequently present in FL than in DLBCL: BCL2 (p = 0.003), CREBBP (p = 0.003), KMT2D (p = 0.012), and TNFRS14 (p = 0.015), with significant differences
Numerous studies over the past decade have analyzed hundreds of tumor genomes of DLBCLs and FLs to better understand the molecular pathogenesis of these diseases[3,4,5,11,12,13]
Summary
Next-generation sequencing (NGS) data on lymphomas require further validation before being implemented in daily practice, the clinical application of NGS can be considered right around the corner. The aim of our study was to validate an NGS lymphoid panel for tissue and liquid biopsy with the most common types of non-Hodgkin’s lymphoma [follicular lymphoma (FL) and diffuse large B-cell lymphoma (DLBCL)]. In this series, 372 somatic alterations were detected in 93.6% (44/47) of the patients through tissue biopsy. The aim of our study was to validate an NGS lymphoid panel for solid and liquid biopsy in the most common NHLs (DLBCL and FL) and to assess the concordance between genetic mutations detected in solid and liquid biopsies
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