Diagnostics of myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML)

Abstract

Myelodysplastic syndromes (MDS) are clonal malignant diseases of the hematopoietic stem cell. They are diagnosed mainly in elderly cytopenic patients and are characterized by a heterogeneous course of the disease. The diagnosis is based on blood and marrow cytology, chromosomal examination, and histology of the marrow, taking into account the degree of dysplasia, peripheral and medullary blast count, and cytogenetic findings according to the proposals of the World Health Organization (WHO) classification. The assessment of cytologic findings is important because the different types of MDS differ in terms of prognosis and therapeutic considerations. Acute myeloid leukemias are discriminated from MDS according to the blast counts in the bone marrow or peripheral blood ( ≥ 20%). Diagnosis is based on morphology and cytogenetics, and histology is also important. In addition, immunophenotyping and molecular investigations are needed. Information derived from cytogenetics and molecular markers play an important role for prognostication. Minimal residual disease can be best investigated using immunophenotyping and measurement of molecular markers.

Ras gene mutation in acute myeloid leukemia and Myelodysplastic syndromes: a meta-analysis of its occurrence and prognostic relevance

“…Acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS) are characterized by a series of cytogenetic aberrations and mutations genes tightly connected with the leukemogenic process [1]. A prominent characteristic of MDS is its genetic instability, and nearly 30% of MDS cases will develop into AML [2][3] [4].…”