A literature review focused on the prognostic role of cytogenetics in Philadelphia (Ph)-negative myeloproliferative neoplasms (MPN) was recently published in Medicina.
In the article, the authors concentrated on the most prevalent Ph-negative MPN classifications: polycythemia vera (PV), essential thrombocythemia (ET), and myelofibrosis.
Cytogenetics has a well-established prognostic role in acute leukemias and in myelodysplastic syndromes, where it drives clinical decisions, and the cytogenetics analysis in Ph-negative MPNs can similarly offer useful information on prognosis.
Although the natural histories of Ph-negative MPNs can sometimes last decades, the authors point out that over that time, altered DNA methylation, which is associated with age and mutations, can also cause DNA breakage that can lead to deletions and duplications. Along with acquired point mutations and telomere shortening, these chromosomal alterations are also prognostically important for leukemic transformation.
The conventional method for cytogenetics is G-banding of metaphase nuclei from a cell culture to obtain a karyotype. Additional techniques include fluorescence in situ hybridization with labeled DNA probes, and hybridization with protein nucleic acid probes.