The Molecular Pathology of Myelodysplastic Syndrome

Abstract

The diagnosis and classification of myelodysplastic syndromes (MDS) are based on cytomorphology and cytogenetics (WHO classification). Prognosis is best defined by the Revised International Prognostic Scoring System (IPSS-R). In recent years, an increasing number of molecular aberrations have been discovered. They are already included in the classification (e.g., SF3B1) and, more importantly, have emerged as valuable markers for better classification, particularly for defining risk groups. Mutations in genes such as SF3B1 and IDH1/2 have already had an impact on targeted treatment approaches in MDS.

Surveillance of Myelodysplastic Syndrome via Migration Analyses of Blood Neutrophils: A Potential Prognostic Tool

“…The present study demonstrated its usefulness in MDS, a group of heterogeneous neoplasias gaining various genetic alterations due to genetic instability, whose causes of initiation are not completely understood (47,48). The incidence is four to five out of 100,000 people per year and .30 out of 100,000 are over the age of 70 (49). The disease is staged by blood cell counts, bone marrow blast percentages, and cytogenetic results, leading to the calculation of the IPSS-R as a prognostic parameter (28).…”

Traditional Chinese Medicine Containing Arsenic Treated MDS Patients Effectively through Regulating Aberrant Hypomethylation

“…Although many therapeutic strategies have been employed, the disease remains incurable [2,3]. e pathophysiology of MDS involves epigenetic, genetic, and cytogenetic aberrations [4]. Aberrant DNA methylation plays a key role in MDS.…”

Miyelodisplastik Sendromlu Olguların Kan ve Kemik İliği Örneklerinin Konvansiyonel Sitogenetik ve Floresan İn Situ Hibridizasyon (FISH) Yöntemiyle İncelenmesi

“…Miyelodisplastik sendrom (MDS) yetersiz ve displastik hematopoez ile karakterize, klonal bir hematolojik hastalıktır. Kemik iliğinde hiperselülarite ve blast hücre artışı olmasına karşın, perifer kanında sitopeni gözlenir (1). MDS'li hastaların klinik fenotipi çok çeşitlidir.…”