Hematologic malignancies constitute a heterogeneous group of neoplastic diseases of the hematopoietic and lymphoid tissues. Collectively, they represent ~10% of all cancer types and are characterized by variable incidence, etiology, clinical presentation, management and prognosis. They can be divided into two major categories: (i) lymphoid and (ii) myeloid, while their incidence is increased in older individuals.
Hematologic malignancies may be life-threatening; therefore, early and accurate diagnosis as well as robust risk stratification are critical to their immediate treatment.
Recent technological advances have paved the way towards the implementation of genomic medicine in everyday practice, expanding our knowledge regarding cancer ontogeny and evolution, allowing to reach three main conclusions:
- each entity is characterized by a complex genetic background consisting of a constellation of somatic genomic aberrations
- several malignancies are characterized by disruption in a particular pathway or process
- specific genetic lesions are also detected in precancerous conditions or even in the general population
In parallel, application of genomic medicine approaches to the everyday management of patients with hematologic malignancies has revealed the power of this approach for accurate risk stratification, hence meaningfully assisting in clinical decision making, including treatment selection. This translates in optimal outcomes by maximizing benefits while minimizing adverse events and unnecessary costs.