Abstract
With the advent of next-generation sequencing (NGS), genomic profiling of tumors has been gradually introduced into the clinical setting and has become a standard in cancer care. NGS allows convenient, rapid, and inexpensive sequencing and the commercially available NGS panels enable the detection of single or global genomic alterations of germline and somatic origin. Today, genomic mutation profiling using NGS is indispensable for disease evaluation and prediction of prognosis or responsiveness to cancer therapy.
However, the challenges encountered when applying NGS testing for diagnostic use are numerous, particularly the ones concerning interpretation and reporting. The current recommendations concern NGS mutation profiling in hereditary genetics and somatic genetics applicable to solid tumors; however, clear guidelines are lacking in regard to the specific challenges encountered in the application of NGS mutation analysis to hematological malignancies.
In order to bridge this gap, the present report proposes recommendations for handling the specific challenges encountered while applying NGS mutation testing for the confirmation of diagnosis, risk stratification, and the prediction of response to therapy in the routine diagnostic setting for hematological neoplasia.