Genetic diagnosis in malignant hemopathies: from cytogenetics to next-generation sequencing

Since the first specific chromosomal abnormality was identified in leukemia more than 50 years ago, technology has much evolved, now allowing the deciphering of cancer genomes in ever-greater detail. However, much has still to be learned as we have not yet completely dissected all the genomic aberrations driving the genesis and the evolution of malignant hemopathies. The first techniques that have been developed allowed 'gross' chromosomal abnormalities to be identified. They include conventional and molecular cytogenetics and microarray-based techniques. However, these techniques can only reveal part of the problem, as genes can be altered in a number of ways (mutations, methylation and so on). This led to the development of what is now known as next-generation sequencing (NGS). Each method has advantages and limits. At present, no single method can decipher all the mechanisms involved in leukemogenesis. Therefore, in our view, it is unlikely that a particular technique will become the 'gold standard'.