Diagnosing Myelodysplastic Syndromes in Older Adults: Essential Tests and Evaluations
Myelodysplastic syndromes (MDS) are a group of disorders characterized by the bone marrow's inability to produce healthy, mature blood cells. Diagnosing MDS in older adults requires a comprehensive and systematic approach involving multiple tests and assessments. Early and accurate diagnosis is crucial for determining disease severity, identifying potential treatment pathways, and improving long-term outcomes.
Core Diagnostic Testing for MDS
The foundation of MDS diagnosis lies in a series of laboratory and pathological evaluations. These tests help confirm the presence of abnormal blood cell production and assess the extent of bone marrow dysfunction.
1. Complete Blood Count (CBC) and Peripheral Blood Smear
A routine blood test is typically the first step. A complete blood count reveals low levels of red blood cells (anemia), white blood cells (leukopenia), or platelets (thrombocytopenia)—common indicators of MDS. The peripheral blood smear allows hematologists to examine the shape, size, and maturity of blood cells under a microscope, often revealing dysplastic (abnormally developed) features typical of MDS.
2. Bone Marrow Aspiration and Biopsy
This is the gold standard for diagnosing MDS. During this procedure, a small sample of bone marrow—usually taken from the hip bone—is analyzed to evaluate cellularity, detect abnormal cell morphology, and identify blast percentage. The biopsy helps differentiate MDS from other conditions like aplastic anemia or leukemia.
3. Cytogenetic Analysis
Chromosome testing (karyotyping) of bone marrow cells identifies specific genetic abnormalities such as deletions or translocations (e.g., del(5q), trisomy 8). These findings play a critical role in confirming the diagnosis, predicting disease progression, and guiding therapy decisions.
4. Molecular Genetic Testing
Advanced gene panel testing—often performed on either bone marrow or peripheral blood—detects mutations in genes such as TET2, ASXL1, SF3B1, and TP53. These mutations provide deeper insights into prognosis and can influence eligibility for targeted therapies or clinical trials. Although costly, molecular profiling has become increasingly important in personalized MDS management.
Comprehensive Health Assessment
Beyond hematologic testing, evaluating the patient's overall health is essential—especially in elderly individuals who may have coexisting medical conditions.
Cardiac and Organ Function Evaluation
Tests such as electrocardiogram (ECG), echocardiogram, and computed tomography (CT) scans help assess heart function and detect any underlying organ abnormalities. This information is vital when considering aggressive treatments like stem cell transplantation or intensive chemotherapy.
Performance Status Scoring
Physicians often use tools like the Eastern Cooperative Oncology Group (ECOG) scale to evaluate a patient's physical ability and daily functioning. This helps determine how well they might tolerate various treatment regimens.
Screening for Secondary Causes and Comorbidities
It's important to rule out other conditions that can mimic MDS or contribute to its development.
Autoimmune and Inflammatory Disorders
Some patients with autoimmune diseases such as lupus or rheumatoid arthritis may develop MDS-like symptoms. Blood tests for autoantibodies and inflammatory markers may be necessary to exclude these possibilities.
Oncologic Screening
MDS can sometimes occur secondary to prior cancer treatments (therapy-related MDS) or alongside other malignancies. Imaging studies and tumor marker tests may be recommended to screen for concurrent cancers, especially in high-risk individuals.
Risk Stratification and Prognostic Implications
All diagnostic data—including blood counts, blast percentage, cytogenetics, and gene mutations—are integrated into prognostic scoring systems like the Revised International Prognostic Scoring System (IPSS-R). This system classifies patients into risk categories ranging from very low to very high, helping clinicians decide whether supportive care, hypomethylating agents, or curative-intent therapies are most appropriate.
In summary, diagnosing MDS in older adults involves a multifaceted evaluation that goes beyond basic blood work. While the process can be time-consuming and expensive—particularly due to advanced genetic testing—it provides critical information that shapes every aspect of patient care, from prognosis to personalized treatment planning.