Balkan Journal of Medical Genetics

DROPLET DIGITAL PCR AS A MOLECULAR TOOL FOR THE DETECTION OF THE EGFR T790M MUTATION IN NSCLC PATIENTS WITH THE EGFR ACTIVATING MUTATIONS
Durgut S, Salihefendić L, Pećar D, Čeko I, Mulahuseinović N, Izmirlija M, Konjhodžić R
*Corresponding Author: Selma Durgut, MD, ALEA Genetic Center, Olovska 67, 71000 Sarajevo, Bosnia and Herzegovina; Mob.: +38761904549, Email: selma.durgut@agc.ba
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INTRODUCTION

Lung cancer is one of the most commonly diagnosed cancers, while non-small cell lung cancers (NSCLC) ac- count for 80-85% of all lung cancer cases [1,2] . Determining the presence of EGFR mutations in this type of lung cancer is an essential step, as it helps in selecting tyrosine kinase inhibitor therapy (TKI therapy). TKIs target the EGFR receptor in NSCLC patients and thus harbor activating EGFR mutations [3,4] . The presence of mutations in NSCLC is crucial for a patient’s diagnosis, therapy assessment, and prognosis [5] . However, a significant number of patients who initial- ly respond successfully to TKI therapy, eventually develop acquired resistance to EGFR-TKIs [6,7] . It has been found that specific secondary mutations occur and cause resis- tance to the applied therapy and lead to disease relapse [8,9] . The most frequent secondary mutation in NSCLC patients is a secondary mutation in exon 20, called the T790M mutation, which occurs in nearly 50% of cases where the disease recurs in patients who have undergone TKI therapy [8] . As a result, third-generation EGFR-TKIs have been developed to target resistance mutation by blocking T790M mutant EGFR irreversibly [10] . Since secondary EGFR mutations, such as T790M, cause resistance to the prescribed TKI therapy, monitor- ing potential changes after the administration of therapy is crucial. This approach implies multiple sampling, and therefore the standard method of tissue biopsy, which is invasive, can make it difficult to resample regularly. To overcome this, liquid biopsy, which is minimally invasive, is becoming a more frequent method in clinical diagnos- tics [11] . It is also a suitable sampling method for patients in whom tumor formations have developed in inaccessible lo- cations in the body or for those who may be at risk of some health complications in the event of a tissue biopsy [12] . Droplet digital PCR has several unique advantages, especially regarding rare mutation detection and precise DNA quantification [5] . Droplet digital PCR utilizes water- oil emulsion technology to partition each sample into 20 000 nanoliter-sized droplets, where target and background DNA are distributed randomly into the droplets. When properly designed, ddPCR can detect 1 mutant in 10 000 wild-type alleles [13] . Using ddPCR to test for mutation T790M from plasma samples, could be a promising ap- proach for treating NSCLC patients.

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