Cytogenetic Abnormalities in Myelodysplastic Syndromes: An Overview

Abstract

Karyotype is one of the main constituents of the International Prognostic Scoring System (IPSS) and revised-IPSS that are the cornerstones for the prognostication of patients with myelodysplastic syndromes (MDS). Del(5q), –7/del(7q), +8 and –Y are among the most extensively studied cytogenetic abnormalities in MDS. The same applies for normal karyotype. There are hundreds of other rare cytogenetic abnormalities that have been reported in MDS, included but not limited to –X, 3q abnormalities, +13/del(13q), i(17q), +21/–21. However, due to a very low number of patients, their impact on the prognosis of MDS is limited. Knowledge of the molecular consequences of different cytogenetic abnormalities allows us to modify treatment regimens based on drugs most active against the specific karyotype present, allowing for the opportunity to individualize MDS treatment and improve patient care and prognosis.

Keywords

• Cytogenetics
• Karyotype
• Myelodysplastic syndromes
• Myelodysplasia
• Chromosomal abnormalities