Molecular and Cytogenetic Markers and Their Clinical Implications

New Research on Hematological Malignancies, David K. Gioia, Editör, NOVA Science Publishers Inc. , New York, ss.1-50, 2021

Myeloproliferative neoplasms (MPNs) are clonal disorders of

the hematopoietic stem cells that are characterized by increased

proliferation of erythroid, megakaryocytic, or granulocytic cells in

the bone marrow that is associated with increased peripheral blood

parameters. According to the revised World Health Organization

(WHO) classification (2016), MPNs include chronic myeloid

leukemia (CML), chronic neutrophilic leukemia (CNL),

polycythemia vera (PV), primary myelofibrosis (PMF), essential

thrombocythemia (ET), chronic eosinophilic leukemia [not

otherwise specified (NOS)] and MPN-unclassifiable (MPN-U). This

classification is based on the morphology of the cell, as well as the

clinical and genetic features of each disease.

Many molecular and cytogenetic abnormalities have been

identified for the pathogenesis of these diseases. Chromosomal

aberrations such as total or partial trisomy, deletion, unbalanced

translocation and rarely balanced translocation and somatic

mutations detected in MPNs affect the expression of some tumor

suppressor genes and/or oncogenes resulting in initiation and/or

progression of the disease. It is of major importance to detect

these abnormalities for differential diagnosis, follow-up of the

patient and prognosis of the disease. Therefore, the physician

should consider evaluating the laboratory and clinical findings

together to achieve the best outcome. The aim of this chapter is to

focus on cytogenetic and molecular markers and summarize their

importance in identification, treatment and prognosis in patients

with MPNs.