MOLECULAR DIAGNOSIS IN CLINICAL BIOCHEMISTRY: LIQUID BIOPSY

Yıl 2026, Cilt: 27 Sayı: 2 , 276 - 286 , 16.04.2026

Hamit Yaşar Ellidağ

https://doi.org/10.18229/kocatepetip.1628346

https://izlik.org/JA76WJ72NU

Öz

Whether unicellular or multicellular, the fundamental drive of life is to survive and persist. This principle also applies to cancer cells. Humanity's relentless battle against cancer continues, and a crucial strategy in this fight is to determine the enemy’s position and strength. Currently, tissue biopsy remains the gold standard for tumor diagnosis. However, liquid biopsy has emerged as a promising alternative, focusing on detecting tumor-derived circulating free DNA (cfDNA), circulating free RNA (cfRNA), microvesicles (exosomes, extracellular vesicles: EVs), circulating tumor cells (CTCs), and tumor-educated platelets (TEPs) in bodily fluids such as blood, saliva, and urine. In cancer diagnosis, liquid biopsy plays a crucial role in early detection, monitoring treatment response, and tracking genetic changes in tumors. Advances in next-generation sequencing (NGS), quantitative polymerase chain reaction (qPCR), and digital droplet PCR (ddPCR) have significantly improved the sensitivity and specificity of data obtained through liquid biopsy. Beyond cancer, liquid biopsy is also being utilized in the diagnosis of neurodegenerative diseases, cardiovascular diseases, infections, and genetic disorders. In cardiovascular diseases, circulating microRNA profiles provide valuable insights into disease progression. However, several challenges must be addressed before liquid biopsy can be fully integrated into clinical practice. These challenges include standardizing methodologies, enhancing the sensitivity of biomarkers, and completing clinical validation processes. Additionally, advanced bioinformatics analysis techniques are needed to interpret the data obtained from liquid biopsy and translate it into clinical applications. In the future, liquid biopsy has the potential to become a standard diagnostic tool for managing various diseases, particularly cancer. The incorporation of artificial intelligence and machine learning-based data analysis methods is expected to further refine the accuracy and reliability of liquid biopsy results. This review will discuss the fundamental principles, advantages, limitations, and clinical applications of liquid biopsy, a rapidly evolving and highly relevant diagnostic approach.

Anahtar Kelimeler

Cell fee DNA , Cell fee RNA , Extracellular vesicles , Circulating tumor cells.

Proje Numarası

yok

KLİNİK BİYOKİMYADA MOLEKÜLER TANI: SIVI BİYOPSİ

https://izlik.org/JA76WJ72NU

Öz

İster tek hücreli, ister çok hücreli olsun, canlılığın en temel dürtüsü varlığını sürdürmek ve hayatta kalmaktır. Bu durum kanser hücreleri içinde geçerlidir. İnsanoğlunun kanserle amansız savaşı devam etmektedir. Bu savaş sırasında düşmanın konumunu ve gücünü tespit etmek temel stratejidir. Bu amaçla günümüzde doku biyopsisi tümör teşhisi için altın standart olmaya devam etmektedir. Bununla birlikte, sıvı biyopsi, tümör hücrelerinden salgılanan dolaşımdaki serbest DNA (cell-free tumor DNA : cftDNA), RNA (circulating cell-free RNA : cfRNA), mikrovezikül (ekzosomlar, ekstrasellüler veziküller :EVs), dolaşımdaki tümör hücreleri (circulating tumor cells (CTCs) ve tümör etkileşimli trombositlerin (tumor-educated platelets (TEPs) tespiti için başta kan, tükrük, idrar gibi vücut salgılarına odaklanan yöntemlerdir. Kanser tanısında sıvı biyopsi, hastalığın erken evrede belirlenmesi, tedavi yanıtının izlenmesi ve tümör genetiğindeki değişikliklerin takip edilmesi açısından büyük önem taşır. Yeni nesil dizileme (NGS), kantitatif polimeraz zincir reaksiyonu (qPCR) ve dijital damlacık PCR (ddPCR) gibi ileri teknolojiler sayesinde sıvı biyopsiden elde edilen verilerin duyarlılığı ve özgüllüğü artırılmaktadır. Kanser dışında sıvı biyopsi, nörodejeneratif hastalıklar, kardiyovasküler hastalıklar, enfeksiyonlar ve genetik bozuklukların teşhisinde de kullanılmaktadır. Kardiyovasküler hastalıklarda ise dolaşımdaki mikroRNA profilleri, hastalığın progresyonu hakkında önemli bilgiler sunmaktadır. Bununla birlikte, sıvı biyopsinin klinik uygulamalara tam anlamıyla entegre edilebilmesi için bazı zorluklar mevcuttur. Bu zorluklar arasında yöntemlerin standardizasyonunun sağlanması, biyobelirteçlerin duyarlılığının artırılması ve klinik doğrulama süreçlerinin tamamlanması bulunmaktadır. Sıvı biyopsiden elde edilen verilerin yorumlanması ve klinik pratiğe aktarılması için ileri biyoinformatik analiz yöntemlerinin geliştirilmesi gerekmektedir. Gelecekte sıvı biyopsi, kanser başta olmak üzere birçok hastalığın yönetiminde standart bir tanı yöntemi haline gelebilir. Özellikle yapay zeka ve makine öğrenmesi tabanlı veri analiz yöntemleri ile sıvı biyopsiden elde edilen bilgilerin daha hassas şekilde değerlendirilmesi mümkün olacaktır. Bu derlemede, şu an oldukça güncel olan sıvı biyopsi yöntemlerinin temel prensipleri, avantajları, sınırlamaları ve klinik uygulama alanları ele alınacaktır.

Anahtar Kelimeler

Serbest DNA , Serbest RNA , Ekstraselüler vezikül , Serbest tümör hücreleri.

Etik Beyan

yok

Destekleyen Kurum

yok

Proje Numarası

yok

Teşekkür

yok

Kaynakça

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