Department of Hematology, Gregorio Marañón General University Hospital, C/ Doctor Esquerdo 46, 28007, Madrid, Spain.
Gregorio Marañón Health Research Institute (IiSGM), Madrid, Spain.
Sci Rep. 2021 Nov 24;11(1):22815. doi: 10.1038/s41598-021-02362-4.
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.
尽管淋巴瘤的下一代测序 (NGS) 数据在实际应用前还需要进一步验证，但 NGS 的临床应用已经近在咫尺。本研究的目的是验证一个用于组织和液体活检的 NGS 淋巴肿瘤面板，该面板涵盖最常见的非霍奇金淋巴瘤[滤泡性淋巴瘤 (FL) 和弥漫性大 B 细胞淋巴瘤 (DLBCL)]。在本系列中，通过组织活检，在 93.6% (44/47) 的患者中检测到 372 个体细胞改变。在 FL 中，我们鉴定出 93 个体细胞改变，每个样本的中位数为 7.4 个突变。在 DLBCL 中，我们检测到 279 个体细胞变体，中位数为 8.6 个突变（范围 0-35）。在 92% (24/26) 的病例中，我们能够在循环肿瘤 DNA 中检测到一些变体。我们总共检测到 386 个变体；63.7% 在两种类型的样本中均有检测到，13.2% 仅在循环肿瘤 DNA 中检测到，23% 仅在组织活检中检测到。我们发现循环肿瘤 DNA 突变数量与晚期和肿块疾病之间存在相关性。该面板中检测到的遗传改变与之前在诊断时描述的改变一致。因此，液体活检样本是一种补充工具，可以提供新的遗传信息，即使在无法进行实体活检或获得的样本不足的情况下也是如此。总之，我们在本研究中描述和分析了在非霍奇金淋巴瘤诊断中纳入液体活检到临床实践中所遇到的发现和困难。
