The power and potential of integrated diagnostics in acute myeloid leukaemia

Br J Haematol. 2020 Jan;188(1):36-48. doi: 10.1111/bjh.16360. Epub 2019 Dec 6.

Abstract

The field of acute myeloid leukaemia (AML) diagnostics, initially based solely on morphological assessment, has integrated more and more disciplines. Today, state-of-the-art AML diagnostics relies on cytomorphology, cytochemistry, immunophenotyping, cytogenetics and molecular genetics. Only the integration of all of these methods allows for a comprehensive and complementary characterisation of each case, which is prerequisite for optimal AML diagnosis and management. Here, we will review why multidisciplinary diagnostics is mandatory today and will gain even more importance in the future, especially in the context of precision medicine. We will discuss ideas and strategies that are likely to shape and improve multidisciplinary diagnostics in AML and may even overcome some of today's gold standards. This includes recent technical advances that provide genome-wide molecular insights. The enormous amount of data obtained by these latter techniques represents a great challenge, but also a unique chance. We will reflect on how this increase in knowledge can be incorporated into the routine to pave the way for personalised medicine in AML.

Keywords: AML diagnosis and management; acute myeloid leukaemia; artificial intelligence; multidisciplinary diagnostics; precision medicine.

Publication types

  • Review

MeSH terms

  • Cytogenetic Analysis*
  • Genome-Wide Association Study
  • Humans
  • Immunophenotyping*
  • Leukemia, Myeloid, Acute / diagnosis*
  • Leukemia, Myeloid, Acute / genetics
  • Leukemia, Myeloid, Acute / pathology
  • Precision Medicine*