Abstract 3125: Disturbance of CALR mutation profile in MPNs by NGS and Real-Time PCR

Myeloproliferative neoplasms (MPNs) are clonal disorders which are driven by one of three driver mutations that cause activation of JAK/STAT signaling. MPNs have classically been divided into three main conditions; essential thrombocythemia (ET), polycythemia vera (PV) and primary myelofibrosis (PMF). CALR mutations act as a driver mutation early in the pathogenesis of these disorders and the mutations in exon 9 of CALR gene occur in approximately 30% of patients with MPNs. Thus, in this study CALR mutation profiling had been performed by real time PCR then the next generation sequencing (NGS) to identify the differential genetic profile of Turkish population in MPNs. Genomic DNA was isolated from peripheral blood samples. A real time PCR test was used to detect c.1092_1143del variant, c.1154_1155insTTGTC variant and other 34 minor variants (Ipsogen CALR RGQ PCR Kit). Then the minor variants and possible other variants were identified via NGS (GeneReader NGS System). CALR mutations were detected in 34/128 of the patients. Among the 34 patients with CALR mutations, 15 of them had at least one mutation and 19 had at two mutations. 22 of 34 patients who were classified as in minor variants by real time PCR, were then studied via NGS to specify the mutations. The detected sub-variants are shown at Table 1. Interestingly, five mutations that are unique and not included in the real time PCR were identified by sequencing. Identification of the driver mutations are important for disease diagnosis and progress. Though, our study shows the disturbance of the mutations in Turkey together with the redundance of real time PCR and NGS data. Citation Format: Cagla Rencuzogullari, Sevcan Tug Bozdogan, Birol Guvenc, Atil Bisgin. Disturbance of CALR mutation profile in MPNs by NGS and Real-Time PCR [abstract]. In: Proceedings of the Annual Meeting of the American Association for Cancer Research 2020; 2020 Apr 27-28 and Jun 22-24. Philadelphia (PA): AACR; Cancer Res 2020;80(16 Suppl):Abstract nr 3125.