Ann Lab Med.  2017 Nov;37(6):465-474. 10.3343/alm.2017.37.6.465.

Diagnostics and Prognostication of Myelodysplastic Syndromes

• Zini G

• KMID: 2425986
• DOI: http://doi.org/10.3343/alm.2017.37.6.465

Abstract

MDS are a heterogeneous and complex group of clonal hematological neoplasms arising from a hematopoietic stem cell, and characterized by ineffective hematopoiesis, resulting in increased apoptosis in the bone marrow and peripheral cytopenia, which involves one or more lineages. Epigenetic changes are reported as "˜founder' mutations in the case of MDS. Its incidence in the general population has been reported as five new MDS diagnoses per 100,000 people. It affects men more frequently than it does women, and its incidence increases with age. The diagnostic classification, now in use, is the one of the World Health Organization, revised in August 2016. It recognizes six distinct entities in addition to a provisional entity of childhood. In most of the cases, diagnosis is based on the morphologic quantitative and qualitative evaluation of the peripheral blood and bone marrow using basic hematological techniques. Bone marrow biopsy and flow cytometric immunophenotyping also offer support for further diagnostic elucidation, while cytogenetics and molecular genetics are presently fully integrated into prognostication, treatment processes, and decision-making.

Keyword

Myelodysplastic syndromes (MDS); WHO 2016 classification; Diagnosis; Prognostication

MeSH Terms

Apoptosis
Biopsy
Bone Marrow
Classification
Cytogenetics
Diagnosis
Epigenomics
Evaluation Studies as Topic
Female
Hematologic Neoplasms
Hematopoiesis
Hematopoietic Stem Cells
Humans
Immunophenotyping
Incidence
Male
Molecular Biology
Myelodysplastic Syndromes*
World Health Organization

Figure

• 

  Fig. 1 Erythroid series: morphologic dysplastic features. (A) Internuclear bridging (May-Grünwald-Giemsa stain, ×50), (B) Nuclear budding and megaloblastic changes (May-Grünwald-Giemsa stain, ×100), (C) Nuclear lobation and cytoplasmic vacuolization (May-Grünwald-Giemsa stain, ×50), (D) Multinuclearity (May-Grünwald-Giemsa stain, ×100), (E) Karyorrehexis (May-Grünwald-Giemsa stain, ×50), (F) Abnormal Periodic acid-Schiff positivity (PAS stain, ×50), and (G) Ring sideroblasts (Perls' Prussian Blue Stain, ×50).

• 

  Fig. 2 Granulocytic series: morphologic dysplastic features. (A) Small size, nuclear hypolobulation/pseudo-Pelger and decreased granules/agranularity (May-Grünwald-Giemsa stain, ×100), (B) Pseudo-Pelger in 17p del (May-Grünwald-Giemsa stain, ×100), (C) Nuclear hypersegmentation (May-Grünwald-Giemsa stain, ×100), (D) Coalescent granules Pseudo Chédiak-Higashi (May-Grünwald-Giemsa stain, ×100), (E) Unusual large size and agranularity (May-Grünwald-Giemsa stain, ×100), and (F) Auer rods (May-Grünwald-Giemsa stain, ×100) (in the box: myeloperoxidase stain positivity).

• 

  Fig. 3 Megakaryocytic series: morphologic dysplastic features (May-Grünwald-Giemsa stain, ×50). (A) Multinuclearity, (B) Nuclear hypolobulation, (C) Mononucleated micromegakaryocyte (arrow), and (D) Binucleated micromegakaryocyte.

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