Genetic Stratification in Myeloid Diseases: From Risk Assessment to Clinical Decision Support Tool

Rambam Maimonides Medical Journal

Yishai Ofran¹ 

[1] Department of Hematology and Bone Marrow Transplantation, Rambam Health Care Campus, Haifa, Israel and Bruce Rappaport Faculty of Medicine, Technion, Israel Institute of Technology, Haifa, Israel;

关键词: Acute myeloid leukemia;    allogeneic hematopoietic cell transplantation;    genetic aberrations;    minimal residual disease;    myelodysplastic syndrome;   

DOI  :  10.5041/RMMJ.10159

来源: DOAJ

【 摘 要 】

Genetic aberrations have become a dominant factor in the stratification of myeloid malignancies. Cytogenetic and a few mutation studies are the backbone of risk assessment models of myeloid malignancies which are a major consideration in clinical decisions, especially patient assignment for allogeneic stem cell transplantation. Progress in our understanding of the genetic basis of the pathogenesis of myeloid malignancies and the growing capabilities of mass sequencing may add new roles for the clinical usage of genetic data. A few recently identified mutations recognized to be associated with specific diseases or clinical scenarios may soon become part of the diagnostic criteria of such conditions. Mutational studies may also advance our capabilities for a more efficient patient selection process, assigning the most effective therapy at the best timing for each patient. The clinical utility of genetic data is anticipated to advance further with the adoption of deep sequencing and next-generation sequencing techniques. We herein suggest some future potential applications of sequential genetic data to identify pending deteriorations at time points which are the best for aggressive interventions such as allogeneic stem cell transplantation. Genetics is moving from being mostly a prognostic factor to becoming a multitasking decision support tool for hematologists. Physicians must pay attention to advances in molecular hematology as it will soon be accessible and influential for most of our patients.

【 授权许可】

Unknown