Molecular techniques in cytopathology practice

TLDR

Molecular techniques have become increasingly integrated into cytopathology over the past decade, expanding diagnostic capabilities across gynecological, non‑gynecological, and fine‑needle aspirate specimens and supporting the growing clinical use of liquid‑based systems. This review aims to highlight and discuss published results on the application of molecular techniques across various cytopathology fields. The review examines how diverse molecular methods are applied to cytology specimens—including serous effusions, pulmonary samples, urine, and fine‑needle aspirations—for diagnosis, prognosis, and therapeutic target assessment. The combined use of morphology and molecular biology in HPV‑related lesions demonstrates that a single brushed sample can simultaneously support diagnosis and research, highlighting the potential for integrated testing.

Abstract

In the last decade, new molecular techniques were introduced into pathology laboratories. Cytology also benefited from the innovations emerging from this new era. Molecular cytopathology (MCP) can be defined as molecular studies applied on all types of cytological specimens, namely gynaecology cytology, exfoliative non- gynaecology cytology and fine needle aspirates. The development of many new ancillary techniques has paralleled the emergence of clinical cytology as a major diagnostic specialty. Clinical applications of these techniques have been growing in the last decade. The widespread acceptance of liquid-based systems in gynaecological cytology emphasises the relation between cells and molecules. The increased use of morphology and molecular biology in human papillomavirus-induced lesions for example, showed the potential to optimise, in one single brushed sample, diagnosis and research. Cytology samples from serous effusions, the pulmonary tree, urine, and aspirations, among others, are now likely to be studied by different molecular techniques for diagnosis, prognosis, or even assessment of therapeutic targets. In this review, the main published results concerning the application of molecular techniques in different fields of cytopathology are highlighted, and their applications discussed.