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MDS is a collection of cytogenetically heterogeneous clonal BM failure disorders derived from aberrant hematopoietic stem cells in the setting of an aberrant hematopoietic stem cell niche.
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The 2008 WHO classification of MDS incorporates peripheral blood and bone marrow morphologic findings, blast percentage, cytogenetics, and history of chemotherapy/radiation.
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Benign mimics of MDS include vitamin/micronutrient deficiencies, infections, drugs/toxins, autoimmune/rheumatologic disease and congenital
Update on Myelodysplastic Syndromes Classification and Prognosis
Section snippets
Key points
Overview
MDS is an umbrella term for a clinically and cytogenetically heterogeneous collection of clonal BM failure disorders. The pathophysiology of MDS is shaped by its clonal origin from aberrant hematopoietic stem cells1 in the setting of an aberrant hematopoietic stem cell niche.2 Patients with MDS can have a relatively stable clinical course, may suffer from the complications of refractory cytopenias, or may develop acute myeloid leukemia. MDS is diagnosed in more than 10,000 patients a year in
Gross features
MDS are diagnosed exclusively based on features of the peripheral blood (PB) and BM. Gross diagnosis is not applicable.
Microscopic features of MDS
Examination of a high-quality PB smear and BM aspirate smear, iron stain, and core biopsy are crucial for accurate determination of blast count and morphologic dysplasi, as well as to identify or exclude alternate causes of cytopenias, such as hemolysis or lymphoproliferative disorders.
Red blood cell abnormalities include anemia, oval macrocytes, and poikilocytosis (Fig. 1A). Dimorphic red blood cells, typically a mixture of normochromic normocytic or macrocytic forms and hypochromic
Differential diagnosis of MDS
The differential diagnosis of MDS includes nutritional or infectious causes, drug or toxin effect, autoimmune/rheumatologic conditions, and congenital disorders (see Differential Diagnosis box and Pitfalls box).10Differential Diagnosis of Myelodysplastic Syndromes
Differentials Vitamin/micronutrient deficiencies Vitamin B12/folate, copper Infections HIV, parvovirus, visceral leishmaniasis Toxins Ethanol, heavy metals, zinc-induced copper deficiency Drug effect Chemotherapeutic agents/folate antagonists
Diagnosis of MDS
Minimal criteria for diagnosis of MDS were elucidated by the International Working Group on Morphology of Myelodysplastic Syndrome (IWGM-MDS) in 200631 and are largely reflected in the 2008 WHO criteria (Table 1).6, 7 These consist of a combination of clinical, morphologic, and cytogenetic findings (see Pathologic Key Features Box). Otherwise unexplained cytopenias must be present at least 6 months. Dysplasia is assessed in the erythroid, megakaryocytic, and myeloid lineages and must be present
Prognosis of MDS
The clinical and biologic heterogeneity of MDS leads to difficulty in evaluating the prognosis of these patients. The International Prognostic Scoring System (IPSS) has been an important standard for assessing prognosis of primary untreated adult MDS patients since 1997, combining critical clinical and biologic features: marrow blast percentage, cytogenetics, and number of cytopenias.50 Both modification of existing parameters and additional prognostic systems have since been proposed to
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Cited by (1)
Beyond the niche: Myelodysplastic syndrome topobiology in the laboratory and in the clinic
2016, International Journal of Molecular Sciences
Disclosure Statement: The authors have nothing to disclose.