Precision medicine in multiple sclerosis: biomarkers for diagnosis, prognosis, and treatment response

This article highlights recent studies on MRI and body fluid molecular biomarkers with potential implications in diagnosis, prognosis, and response to treatment in patients with multiple sclerosis (MS).

In the MS diagnostic process, a reappraisal of well known MRI findings, including symptomatic and spinal cord lesions, and incorporation of newer, more specific, features of MS lesions, such as detection of central veins, are in a testing phase aiming to increase diagnostic accuracy. Lesion counts on T2-weighted scans and gadolinium uptake on postcontrast T1-weighted scans are well established prognostic brain MRI biomarkers. Evidences supporting the implementation of brain volume measures for disease and treatment monitoring are increasing, maybe within a 'zero tolerance' scheme in the overarching no evidence of disease activity concept. Cerebrospinal fluid (CSF) chitinase 3-like 1 and the light subunit of neurofilaments are consolidating their prognostic role in patients with clinically isolated syndrome. Blood CD62L and CSF IgM oligoclonal bands may become clinically useful biomarkers for progressive multifocal leukoencephalopathy risk stratification in MS patients treated with natalizumab.

Although more studies are needed, current and emerging imaging and molecular biomarkers in MS may contribute to outline the concept of precision medicine in MS.