NGS-based multi-gene panel testing in hematological malignancies: diagnosis and prognostic prediction

Abstract

Diagnosis and classification of hematological diseases have been based on morphological and immunological findings, but the emergence of next-generation sequencing (NGS) technology has highlighted the importance of genomic alterations. With the advent of this novel technology, numerous genetic alterations have been identified in hematological malignancies. In fact, more than 300 genetic alterations have been listed in the latest WHO classification, such as NPM1 mutation, for the subcategorization of acute myeloid leukemia. In addition, increasing evidence has suggested that combining genetic information with clinical factors improves prognostic prediction in several hematological malignancies. Although NGS-based genomic profiling has been used to provide precision medicine in solid cancers, no comprehensive genomic profiling test for hematological diseases is covered by public health insurance both in Japan and abroad. Identification of targetable alterations is the main purpose of NGS-based genomic profiling in solid cancers, whereas genetic information is useful not only for treatment stratification but also for diagnosis and prognostic prediction. In addition, genetic profiles of solid and hematological malignancies are quite different. Therefore, the development of a comprehensive genomic profiling test for hematological disease is imperative. Here, we discuss the clinical utility of a comprehensive genomic profiling test for hematological malignancies with an emphasis on diagnosis and prognostic prediction.