Recent Advancements in Defining, Diagnosing, and Staging MDS
Christopher Benton, MD
Jamile M. Shammo, MD
Tiffany Tanaka, MD
Amer Zeidan, MBBS, MD
Rohit Gosain, MD
Key Points
- The definition of myelodysplastic syndromes (MDS) has shifted as understanding of the disease’s distinct biologies has grown.
- Risk scoring models for MDS have been refined in recent years, and can help select patients for transplant or other intensive therapies.
- In low-risk MDS, treatment is primarily focused on improving quality of life and managing symptoms of MDS–related anemia.
As part of a discussion led by Rohit Gosain, MD, of Roswell Park Comprehensive Cancer Center, on the treatment paradigm for low-risk MDS following the approval of luspatercept, Amer Zeidan, MBBS, MD, of Yale School of Medicine; Jamile M. Shammo, MD, of Northwestern Feinberg School of Medicine; and Tiffany Tanaka, MD, of University of California San Diego, shared insights on the hallmarks of MDS and the typical diagnosis and staging process.
The definition of MDS has evolved over time to cover a distinct group of blood cancers, as opposed to its former name of preleukemia. In addition, updated scoring models have refined the risk stratification of patients with MDS. However, even patients with low-risk MDS carry significant morbidity related to bone marrow failure, cytopenias, and progression to acute myeloid leukemia.
A key component of diagnosing MDS is ruling out other causes of myelodysplasia in patients, including nutritional deficiencies, autoimmune disorders, or medication side effects. Although bone marrow biopsy is the standard for a formal diagnosis, peripheral blood testing can effectively identify features of a patient’s MDS, said Dr. Zeidan.
After confirming a diagnosis of MDS, the standard workup involves pathology, cytogenetic, and next-generation sequencing testing. These assessments are fed into the Molecular International Prognostic Scoring System (IPSS-M) to assign a risk score. Treatment for high-risk patients may include transplant or other intensive therapies, whereas treatment for patients with low-risk MDS primarily focuses on improving quality of life by reducing transfusion burden and improving anemia.