From the Guidelines
The workup for a patient with suspected myelodysplastic syndrome (MDS) should begin with a complete blood count with differential and peripheral blood smear to identify cytopenias and morphologic abnormalities, followed by a comprehensive bone marrow evaluation including aspiration and biopsy with cytogenetic analysis, as recommended by the European LeukemiaNet 1. The initial evaluation should include a thorough medical history to exclude other causes of cytopenias, such as medication effects, autoimmune disorders, and other hematologic malignancies.
- Key laboratory tests include:
- Hematology: WBC count, WBC full differential count, RBC count, hemoglobin, platelet count, RBC indices, and reticulocyte count
- Biochemistry: RBC-folate, serum-folic acid, cobalamin, iron, total iron binding capacity, ferritin, lactate dehydrogenase, bilirubin, and haptoglobin
- Virus testing: anti-HIV, anti-parvovirus B19, and cytomegalovirus test
- Other tests: paroxysmal nocturnal hemoglobinuria clone and specific genetic analyses in patients with suspected inherited bone marrow failure The bone marrow evaluation should include morphologic studies of peripheral blood and bone marrow to evaluate abnormalities of peripheral blood cells and hematopoietic precursors, as well as cytogenetics to identify nonrandom chromosomal abnormalities 1.
- The diagnosis of MDS may be difficult in patients with a normal karyotype or noninformative cytogenetics, and repeated bone marrow examinations may be required to establish the diagnosis and identify patients with rapid disease progression 1. It is essential to classify every case according to the World Health Organisation (WHO) criteria and establish the prognosis by IPSS and IPSS-R scoring systems, as recommended by the ESMO clinical practice guidelines 1.
- A comprehensive workup allows for accurate diagnosis, risk stratification, and guides treatment decisions ranging from supportive care to disease-modifying therapies.
From the Research
Symptoms of Myelodysplastic Syndrome
- Myelodysplastic syndromes (MDS) are characterized by reduced numbers of peripheral blood cells, an increased risk of acute myeloid leukemia transformation, and reduced survival 2
- MDS typically has an insidious presentation, consisting of signs and symptoms associated with anemia, thrombocytopenia, and neutropenia 2
- Patients with MDS can present with varying degrees of anemia, neutropenia, and thrombocytopenia, and at presentation can range from indolent to life threatening 3
Workup for Myelodysplastic Syndrome
- Diagnosis of MDS is based on morphological evidence of dysplasia upon visual examination of a bone marrow aspirate and biopsy 4
- Information obtained from additional studies such as karyotype, flow cytometry, and molecular genetics is usually complementary and may help refine diagnosis 4
- A mandatory cytogenetic examination of the bone marrow is necessary to exclude other diseases accompanied by cytopenia 5
- Primary care physicians are encouraged to conduct comprehensive evaluations to exclude non-MDS-related causes for persistent cytopenias 3
Risk Stratification and Management
- Prognosis of patients with MDS can be calculated using a number of scoring systems, including the Revised International Prognostic Scoring System (IPSS-R) 6, 4
- Therapy is selected based on risk, transfusion needs, percent of bone marrow blasts, cytogenetic and mutational profiles, comorbidities, potential for allogeneic stem cell transplantation (alloSCT), and prior exposure to hypomethylating agents (HMA) 4
- Treatment of patients with MDS should be individualized, taking into account risk group stratification, age, and physical status 5
- Epigenetic therapy with azacitidine has an advantage in improving the quality of life of patients with MDS 5