Silvestri Roberto, Rea Filomena, Vitiello Marianna, Moretti Gabriele, Aprile Vittorio, Lucchi Marco, Aretini Paolo, Mazzanti Chiara Maria, Landi Stefano, Gemignani Federica
Department of Biology, University of Pisa, via Derna 1, 56126, Pisa, Italy.
Department of Surgical, Medical, Molecular Pathology and Critical Area, University of Pisa, Via Savi 10, 56126, Pisa, Italy.
Heliyon. 2024 May 31;10(11):e32152. doi: 10.1016/j.heliyon.2024.e32152. eCollection 2024 Jun 15.
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).
Single pleural biopsy, PFs, and blood were collected from PM patients. DNA was extracted from these samples and then subjected to Whole-Exome Sequencing.
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.
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.
本研究旨在确定从胸膜间皮瘤(PM)患者的胸腔积液(PF)中提取的DNA测序是否准确代表从实体组织对应活检中获得的遗传信息,特别关注单核苷酸变异(SNV)的识别。
收集PM患者的单次胸膜活检组织、PF和血液。从这些样本中提取DNA,然后进行全外显子组测序。
在PF中鉴定出的SNV数量高于实体组织活检(STB)。大多数SNV在PF样本中检测到,但在STB样本中未检测到,而只有少数SNV在STB样本中检测到,但在PF样本中未检测到。
目前的研究结果支持PF可能更有力地描绘癌症分子多样性的观点。尽管如此,目前的结果对液体活检可以涵盖患者体内所有变异的说法提出了挑战。确实,一部分潜在的癌症驱动SNV仅在STB中被鉴定出来。然而,仅依靠STB会排除检测到仅存在于PF中的重要SNV。这意味着虽然PF是STB的有价值补充,但它们并不能取代STB。