Elsevier

Surgical Pathology Clinics

Volume 6, Issue 4, December 2013, Pages 693-728
Surgical Pathology Clinics

Update on Myelodysplastic Syndromes Classification and Prognosis

https://doi.org/10.1016/j.path.2013.08.005Get rights and content

Abstract

Myelodysplastic syndromes (MDS) are a collection of cytogenetically heterogeneous clonal bone marrow (BM) failure disorders derived from aberrant hematopoietic stem cells in the setting of an aberrant hematopoietic stem cell niche. Patients suffer from variably progressive and symptomatic bone marrow failure with a risk of leukemic transformation. Diagnosis of MDS has long been based on morphologic assessment and blast percentage as in the original French-American-British classification. The recently developed Revised International Prognostic Scoring System provides improved prognostication using more refined cytogenetic, marrow blast, and cytopenia parameters. With the advent of deep sequencing technologies, dozens of molecular abnormalities have been identified in MDS.

Section snippets

Key points

  • 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.

  • The 2008 WHO classification of MDS incorporates peripheral blood and bone marrow morphologic findings, blast percentage, cytogenetics, and history of chemotherapy/radiation.

  • Benign mimics of MDS include vitamin/micronutrient deficiencies, infections, drugs/toxins, autoimmune/rheumatologic disease and congenital

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).10

Differential Diagnosis of Myelodysplastic Syndromes

Differentials
 Vitamin/micronutrient deficienciesVitamin B12/folate, copper
 InfectionsHIV, parvovirus, visceral leishmaniasis
 ToxinsEthanol, heavy metals, zinc-induced copper deficiency
 Drug effectChemotherapeutic 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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    Disclosure Statement: The authors have nothing to disclose.

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