Pisapia Pasquale, Pepe Francesco, Iaccarino Antonino, Sgariglia Roberta, Nacchio Mariantonia, Conticelli Floriana, Salatiello Maria, Tufano Rossella, Russo Gianluca, Gragnano Gianluca, Girolami Ilaria, Eccher Albino, Malapelle Umberto, Troncone Giancarlo
Department of Public Health, University of Naples Federico II, Naples, Italy.
CEINGE Biotecnologie Avanzate, Naples, Italy.
Front Med (Lausanne). 2021 Feb 11;8:633923. doi: 10.3389/fmed.2021.633923. eCollection 2021.
Molecular cytopathology is a rapidly evolving field embracing both conventional microscopy and molecular pathology. Its growing popularity stems from the fact that in many types of advanced cancers, including non small cell lung cancer (NSCLC), cytological samples often constitute the only available specimens for morphomolecular analysis. Indeed, non formalin fixed and paraffin embedded (FFPE) cytological samples feature a higher quality of extracted nucleic acids than histological specimens. However, because of the growing complexity of molecular testing, several efforts should be made to validate the analytical performance of the wide array of currently available molecular technologies, including next generation sequencing (NGS). This technology has the terrific advantage of allowing simultaneous detection of scores of predictive biomarkers even in low-input DNA/RNA specimens. Here, we briefly review the role of the modern cytopathologist in the morphomolecular diagnosing of advanced stage NSCLC and the adoption of NGS in conventional cytopreparations (cell blocks, direct smears, and liquid-based cytology) and supernatants.
分子细胞病理学是一个迅速发展的领域，涵盖传统显微镜检查和分子病理学。它越来越受欢迎的原因在于，在包括非小细胞肺癌（NSCLC）在内的许多类型的晚期癌症中，细胞学样本通常是形态分子分析的唯一可用标本。事实上，非福尔马林固定和石蜡包埋（FFPE）的细胞学样本提取的核酸质量高于组织学标本。然而，由于分子检测的复杂性不断增加，应该做出一些努力来验证目前可用的各种分子技术（包括下一代测序（NGS））的分析性能。这项技术具有巨大的优势，即使在低输入DNA/RNA样本中也能同时检测数十种预测性生物标志物。在这里，我们简要回顾现代细胞病理学家在晚期NSCLC形态分子诊断中的作用，以及NGS在传统细胞制备（细胞块、直接涂片和液基细胞学）和上清液中的应用。
