Pediatric Myelodysplastic Syndrome: Essential Diagnostic Tests and What Parents Should Know
Myelodysplastic syndrome (MDS) in children is a rare but serious blood disorder that affects the bone marrow's ability to produce healthy blood cells. Early and accurate diagnosis is crucial for effective management and improving long-term outcomes. Unlike adult MDS, pediatric cases often present with unique characteristics, requiring a comprehensive diagnostic approach.
Common Diagnostic Blood Tests
One of the first steps in evaluating suspected pediatric MDS is a complete blood count (CBC). This routine test measures key components of the blood, including white blood cells (particularly neutrophils), red blood cells, platelets, and reticulocytes. Abnormalities such as persistent cytopenias—low levels of one or more blood cell types—are often the initial clue pointing toward a bone marrow disorder.
In many cases, the CBC may reveal dysplastic changes, such as abnormally shaped cells or reduced cell counts across multiple lineages. While these findings are not definitive on their own, they strongly suggest the need for further investigation, especially when combined with clinical symptoms like fatigue, frequent infections, or unexplained bruising.
Confirming Diagnosis Through Bone Marrow Evaluation
The cornerstone of diagnosing pediatric myelodysplastic syndrome is bone marrow examination. This includes both bone marrow aspiration and biopsy, which allow hematologists to assess the cellular composition and structure of the marrow directly.
Bone Marrow Aspiration and Morphological Analysis
During aspiration, a small amount of liquid bone marrow is extracted, usually from the hip bone, and analyzed under a microscope. This test helps identify dysplasia—abnormal development—in one or more blood cell lines. Signs such as abnormal nuclear shapes, irregular granulation, or imbalanced maturation are key indicators of MDS.
Bone Marrow Biopsy for Structural Insight
A biopsy complements the aspiration by providing a tissue sample that shows how cells are arranged within the marrow. It helps determine cellularity (whether the marrow is hypercellular or hypocellular) and detects early signs of fibrosis or infiltration by abnormal cells. In some pediatric cases, the biopsy may also reveal increased blasts, which raises concern for progression to acute myeloid leukemia (AML).
Additional Specialized Testing
Beyond standard tests, advanced diagnostics play a growing role in pediatric MDS. These include:
- Cytogenetic analysis – to detect chromosomal abnormalities such as deletions or translocations.
- Flow cytometry – to examine cell surface markers and identify abnormal immune phenotypes.
- Molecular genetic testing – to uncover mutations in genes associated with MDS and inherited bone marrow failure syndromes (e.g., GATA2, RUNX1).
These tests not only support diagnosis but also help differentiate MDS from other conditions like aplastic anemia or inherited cytopenias, which can mimic its presentation in children.
Why Early Detection Matters
Pediatric MDS is often aggressive and carries a significant risk of transformation into leukemia. Unlike adult forms, childhood MDS may be linked to underlying genetic syndromes, making family history and genetic counseling important parts of the evaluation process.
Due to limited treatment options and variable response to therapy, timely and precise diagnosis is essential. A multidisciplinary approach involving pediatric hematologists, pathologists, and geneticists ensures the most accurate assessment and guides decisions about potential treatments, including stem cell transplantation—the only curative option available today.