Abstract
Cell free nucleic acids (CFNAs) are nucleic acids released from cells that circulate within bodily fluids. Recent advances in molecular techniques have led the ability to interrogate CFNAs in a clinically meaningful way, for example the identification and assessment of foetal CFNAs in maternal blood, allowing minimally invasive testing for foetal genetic abnormalities. The majority of CFNAs arise from haemopoietic cells, making it a particularly rich source of genetic information in haematological conditions. Furthermore, the innate genetic heterogeneity of haematological malignancies, as epitomised by multiple myeloma, lend itself well to “liquid biopsies”. This approach promises to provide a more wholistic assessment of whole disease genetics, especially when contrasted against the current gold-standard of single site tissue biopsies. This review briefly summarises the definitions and physiology of CFNAs, both cell free DNA (cfDNA) and extracellular RNA (exRNA), before exploring the literature surrounding the current and future roles of cfDNA in the haematological malignancies and patient care.
Highlights
Cell free nucleic acids (CFNAs) were first identified in the blood in 1948[1], many decades passed before molecular techniques with adequate sensitivity to usefully interrogate the CFNAs were developed
This review briefly summarises the definitions and physiology of CFNAs relevant to liquid biopsies in haematology, with a focus on what is known about cell free DNA (cfDNA) in haematological conditions and the future potential of liquid biopsies in the clinic
This study found that the clonal IgH rearrangements in cfDNA became undetectable in patients who responded to therapy before a change in the paraprotein, suggesting cfDNA is a more immediate estimation of tumour burden than the traditional methods of monitoring
Summary
Cell free nucleic acids (CFNAs) were first identified in the blood in 1948[1], many decades passed before molecular techniques with adequate sensitivity to usefully interrogate the CFNAs were developed. The first cancer-associated mutations identified in CFNAs were in blood taken from patients with myelodysplastic syndrome[2,3] and most cell free DNA (cfDNA) is derived from haemopoietic cells[4,5]. In addition to IgH sequencing, cfDNA can be used to identify disease-specific somatic mutations in haematology patients[26].
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