Jane Thompson¹

¹South Australian Health and Medical Research Institute, The University of Adelaide, Australian Clinical Laboratories, Adelaide, Australia

Diagnostic testing paradigms for B/T cell-acute lymphoblastic leukaemia have undergone phenomenal recent advances, with approaches personalised in a manner analogous to precision therapeutics. This presentation will concentrate on diagnostic advances in the contexts of real-world cohorts, the ICC of Acute Lymphoblastic Leukaemia and the 5^th Edition of the WHO Classification of Hematolymphoid Tumors. The judicious recognition of clinically relevant subclasses will be discussed. 

Diagnosis of acute lymphoblastic leukaemia (ALL) has more recently focused on defining detailed genomic landscapes. For example, the detailed subclassification of B-ALL has improved prognostication, precision therapy and measurable residual disease monitoring. Diagnostic techniques such as whole transcriptome RNA sequencing and DNA-based whole genome and whole exome sequencing have become mainstream in many centres. Early integration of fluorescence in situ hybridisation (FISH) panels is common. However, in real-world cohorts, economic impacts and testing complexity may present challenges. 

Focusing on B-ALL, and in particular B-ALL with BCR::ABL1-like features (Ph-like ALL) as a model, the application of FISH panels to rationalise diagnosis and treatment will be discussed.  World-wide literature reporting algorithms that account for applicability to geographic locations, population ethnicities, economic situations and laboratory characteristics has provided valuable lessons to guide future directions.