Application of precision medicine in clinical routine in haematology—Challenges and opportunities

Abstract

Precision medicine is revolutionising patient care in cancer. As more knowledge is gained about the impact of specific genetic lesions on diagnosis, prognosis and treatment response, diagnostic precision and the possibility for optimal individual treatment choice have improved. Identification of hallmark genetic aberrations such as the BCR::ABL1 gene fusion in chronic myeloid leukaemia (CML) led to the rapid development of efficient targeted therapy and molecular follow‐up, vastly improving survival for patients with CML during recent decades. The assessment of translocations, copy number changes and point mutations are crucial for the diagnosis and risk stratification of acute myeloid leukaemia and myelodysplastic syndromes. Still, the often heterogeneous and complex genetic landscape of haematological malignancies presents several challenges for the implementation of precision medicine to guide diagnosis, prognosis and treatment choice. This review provides an introduction and overview of the important molecular characteristics and methods currently applied in clinical practice to guide clinical decision making in haematological malignancies of myeloid and lymphoid origin. Further, experimental ways to guide the choice of targeted therapy for refractory patients are reviewed, such as functional precision medicine using drug profiling. An example of the use of pipeline studies where the treatment is chosen according to the molecular characteristics in rare solid malignancies is also provided. Finally, the future opportunities and remaining challenges of precision medicine in the real world are discussed.

Survival in hematological malignancies in the Nordic countries through a half century with correlation to treatment

“…During this study period, a wide range of technological advances has been made that have transformed the diagnosis and management of HMs. These include new imaging modalities (e.g., computed tomography, magnetic resonance imaging, positron emission tomography), flow cytometry, chromosomal techniques (e.g., cytogenetics and fluorescence in situ hybridization) and techniques in molecular biology (e.g., Sanger sequencing and high-throughput sequencing) [23][24][25]. This 50-year time series showed notable HM-specific temporal features, and below we consider the possible contributing factors to improvements in survival.…”

Global burden of hematologic malignancies and evolution patterns over the past 30 years

“…During the past study period, advances in laboratory techniques have had a significant impact on the diagnosis and management of hematologic malignancies [ 34 , 35 ]. With the development of new technologies, such as next-generation sequencing, flow cytometry, and molecular genetics, it is now possible to identify specific genetic mutations and biomarkers that can be used to classify and prognosticate hematologic malignancies [ 36 ].…”

Clinical Efficacy of Venetoclax and Azacitidine Treatment for an AML-M5 Patient with Poor Prognosis MDS-EB2 Transformation: A Case Report

“…However, these drugs also harm normal cells and are particularly dangerous for elderly and un t patients [3]. Recent advances have shed light on the molecular characteristics and genetic mutations of AML, leading to more precise treatment options [4,5]. The novel venetoclax and azacitidine (VEN + AZA) combo has improved AML outcomes in elderly and un t patients, prolonging remission and survival while minimizing adverse effects, and represents a positive step forward in AML treatment [6].…”