关键词: Cancer-specific mutations Liquid biopsies Pleural mesothelioma Tumour heterogeneity Whole-exome sequencing

来  源:   DOI:10.1016/j.heliyon.2024.e32152   PDF(Pubmed)

Abstract:
UNASSIGNED: This study aims to determine whether the sequencing of DNA extracted from pleural fluids (PFs) of Pleural Mesothelioma (PM) patients accurately represents the genetic information obtained from the solid tissue counterpart biopsies with particular attention to the identification of single nucleotide variants (SNVs).
UNASSIGNED: Single pleural biopsy, PFs, and blood were collected from PM patients. DNA was extracted from these samples and then subjected to Whole-Exome Sequencing.
UNASSIGNED: A higher number of SNVs was identified in PFs than in solid tissue biopsies (STBs). Most SNVs were detected in PFs samples but not in STBs samples, while only a few SNVs were detected in STBs samples but not in PFs samples.
UNASSIGNED: The current findings support the notion that PFs might offer a more robust depiction of cancer\'s molecular diversity. Nonetheless, the current outcomes challenge the assertion that liquid biopsies can encompass the entirety of intra-patient variations. Indeed, a subset of potential cancer-driver SNVs was exclusively identified in STBs. However, relying solely on STBs would have precluded the detection of significant SNVs that were exclusively present in PFs. This implies that while PFs serve as a valuable complement to STBs, they do not supplant them.
摘要:
本研究旨在确定从胸膜间皮瘤(PM)患者的胸膜液(PF)中提取的DNA的测序是否准确地代表了从实体组织对应活检中获得的遗传信息,特别注意单核苷酸变异(SNV)的鉴定。
单胸膜活检,PFs,并从PM患者中收集血液。从这些样品中提取DNA,然后进行全外显子组测序。
与实体组织活检(STB)相比,在PF中鉴定出更多的SNV。大多数SNV在PFs样本中检测到,但在STBs样本中未检测到,而在STBs样品中仅检测到少数SNV,而在PFs样品中未检测到。
目前的研究结果支持这样的观点,即PFs可能对癌症的分子多样性提供更有力的描述。尽管如此,目前的结果挑战了液体活检可以涵盖患者内部变化的全部的断言.的确,在STB中专门鉴定了一个潜在的癌症驱动SNV子集.然而,仅依靠STB将排除检测仅存在于PF中的重要SNV。这意味着,虽然PFs作为STBs的宝贵补充,他们不会取代他们。
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