Public Health, University of Naples Federico II, Naples, Italy.
Public Health, University of Naples Federico II, Naples, Italy
J Clin Pathol. 2022 Jan;75(1):58-60. doi: 10.1136/jclinpath-2020-207107. Epub 2020 Dec 4.
V-Raf murine sarcoma viral oncogene homolog B () gene mutations have recently been approved to select advanced stages non-small cell lung cancer (NSCLC) patients for tyrosine kinase inhibitors treatments. In this setting, liquid biopsy may represent a valuable option for mutational testing in patients without tissue availability. Here, we reviewed 196 plasma based liquid biopsies analysed by an in-house developed next generation sequencing panel, termed SiRe. On the overall, 6 (3.1%) out of 196 mutated cases were identified, with an overall median allelic frequency of 3.4%. Exon 15 p.V600E was the most common detected mutation (2/6, 33.3%). Our data highlighted that the SiRe panel is a robust tool for mutation assessment on circulating tumour DNA. Further investigation is required to develop a diagnostic algorithm to harmonise testing on tissue and blood in advanced stages NSCLC patients.
V-Raf 鼠肉瘤病毒致癌基因同源物 B()基因突变最近被批准用于选择晚期非小细胞肺癌 (NSCLC) 患者进行酪氨酸激酶抑制剂治疗。在这种情况下，液体活检可能是一种有价值的选择，用于组织不可用的患者进行突变检测。在这里，我们回顾了 196 例通过内部开发的下一代测序 panel（称为 SiRe）分析的基于血浆的液体活检。总的来说，在 196 例突变病例中，有 6 例（3.1%）检测到 突变，总体等位基因频率中位数为 3.4%。外显子 15 p.V600E 是最常见的检测到的突变（2/6，33.3%）。我们的数据表明，SiRe panel 是一种用于评估循环肿瘤 DNA 中 突变的强大工具。需要进一步的研究来开发一种诊断算法，以协调晚期 NSCLC 患者组织和血液中 的检测。
