2020 June 9

Cytogenetics in the Genomic Era

The Myelodysplastic Syndrome group, directed by Francesc Solé, has published the chapter "Cytogenetics in the genomic era", within the monograph coordinated by Torsten Haferlach "Deciphering molecular genetics in malignant haemopathies."

The presence of recurrent chromosomal abnormalities characterizes haematological malignancies. For this reason, cytogenetics is essential to establish the diagnosis and prognosis of these diseases. Chromosome banding analysis is mandatory for the diagnosis of chronic myeloid leukemia, eosinophilic neoplasms, myelodysplastic syndromes, and acute leukemias. However, in other myeloid neoplasms, such as chronic lymphocytic leukemia, non-Hodgkin's lymphoma, and multiple myeloma, the study should be complemented with fluorescence in situ hybridization (FISH) or microarrays, which overcome some of the deficiencies of band analysis to identify possible cryptic alterations or reciprocal translocations. Furthermore, in the genomic era, technologies such as next-generation sequencing are being used in routine clinical analysis, as they offer the possibility of studying mutations and copy number alterations in a single study with higher resolution or sensitivity. However, they require highly qualified personnel and greater standardization, especially in terms of data analysis, which limits their current applicability.

With these premises, the group of myelodysplastic syndromes has participated with a chapter within the monographic coordinated by Torsten Haferlach: "Deciphering molecular genetics in malignant haemopathies," with more referent collaborators in biomedical research and haematology. The Chapter has been recently published as an article in the journal Best Practice & Research Clinical Haematology: "Cytogenetics in the genomic era." In addition to Dr. Francesc Solé, Isabel Granada, Laura Palomo, Neus Ruiz, and Mar Mallo are co-authors of this Chapter.