AbstractNext generation sequencing (NGS) investigates for somatic mutations. The utility of incorporating routine sequencing to guide diagnosis and therapeutic decisions remains challenging. We report an observational multicentric study that aimed to assess the impact of somatic mutations testing by NGS in a real-life setting of chronic myeloid malignancies (CMM). A total of 177 patients were enrolled, partitioned in two overlapping groups. In group A (N=94), the indication was to search for clonal hematopoiesis (CH), in a context of suspected myelodysplastic syndrome or myeloproliferative neoplasia. In group B (N=95), the theranostic impact of somatic mutations was studied. A panel of 34 genes was applied on DNA extracted from blood or bone marrow samples. Within group A, the detection of CH comforted the diagnosis of CMM for 31 patients while absence of CH ruled out the suspected diagnosis in 47 patients. Within group B, NGS identified prognostic somatic mutations in 32 patients, with a therapeutic impact in 18 cases. The use of NGS in daily practice was found here to be useful for an integrated final diagnosis in 83% of the patients through the presence or absence of somatic mutations. Moreover, exploration for somatic mutations had a prognostic impact that led to treatment modification in 19% of the cases. This study outlines the fact that adequate prescription of these new investigations may have a significant positive medico-economic impact by allowing appropriate management of the patients.
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Ferrata Storti Foundation, Pavia, Italy
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