When using molecular tests to quantify BCR-ABL1 in CML patients, it is recommended that the test be performed in a standardized laboratory. Standardization ensures that results comply with the ELN (European LeukemiaNet; Baccarani et al., Blood 2013) guidelines, enables comparisons to be made between laboratories and serves as quality assurance.
Our understanding of the genetic changes underpinning malignant disease has expanded tremendously in the past few years. This is also reflected in the increasingly complex diagnostics on offer, particularly in the field of molecular genetics.
Approx. 10% of all hematological neoplasias are plasma cell diseases such as multiple myeloma (MM) or plasma cell leukemias. As is the case for other hematological diseases, molecular genetic diagnostics can be viewed as increasingly relevant in the diagnosis, prognosis and therapeutic stratification of MM.
Next-generation sequencing (NGS) has rapidly become an indispensable tool in diagnostic molecular genetics. A recent article in Blood (Steensma Blood 2018) examined how patients with ambiguous cytopenia or with a (suspected) MDS diagnosis can benefit from the diagnostic potential of NGS.