Abstract Optical Genome Mapping (OGM) is rapidly emerging as an exciting cytogenomic
technology both for research and clinical purposes. In the last 2 years alone, multiple studies …

The proliferation of new molecular technologies in recent years has greatly advanced our
knowledge of the genetics that underlie hematologic cancers. Particularly, with the advent …

Simple Summary Acute leukemia is a rare but severe disease for which genetic
characterization allows diagnostic and prognostic classification and therapeutic …

Myelodysplastic neoplasms (MDS) are clonal hematopoietic neoplasms. Chromosomal
abnormalities (CAs) are detected in 40–45% of de novo MDS and up to 80% of post …

MDS and AML are clonal hematopoietic stem cell disorders of increasing incidence, having
a variable prognosis based, among others, on co-occurring molecular abnormalities. TP53 …

Chromosomal abnormalities are frequent in chronic lymphocytic leukemia (CLL), and most
have prognostic value. In addition to the four well-known abnormalities (13q, 11q and 17p …

Genetic data are becoming increasingly essential in the management of hematological
neoplasms as shown by two classifications published in 2022: the 5th edition of the World …

Myelodysplastic syndromes (MDS) are considered to be diseases associated with splicing
defects. A large number of genes involved in the pre-messenger RNA splicing process are …

Since the discovery of the Philadelphia chromosome in 1960, cytogenetic studies have been
instrumental in detecting chromosomal abnormalities that can inform cancer diagnosis …

Karyotype complexity is established by enumerating the number of chromosome
abnormalities present in a karyotype. In chronic lymphocytic leukemia (CLL), karyotype …