Understand the diagnosis of Myelodysplastic Syndrome. Learn about bone marrow biopsies, genetic testing, and risk scoring (IPSS-R) at Liv Hospital.
Send us all your questions or requests, and our expert team will assist you.
Diagnosis and Evaluation
Diagnosing Myelodysplastic Syndrome (MDS) is a meticulous process that requires more than a simple blood test. Because the symptoms of MDS fatigue, infection, and bruising overlap with many other conditions, confirming the disease involves looking deep inside the bone marrow to analyze the cells at their source.
At Liv Hospital, we approach the diagnosis of MDS not just as a label, but as a roadmap. Our hematology team utilizes advanced diagnostic tools, including flow cytometry and Next-Generation Sequencing (NGS), to create a complete genetic profile of your disease. This level of precision is critical because MDS is not one single disease; it is a spectrum of disorders, and the specific subtype you have dictates which treatment will save your life.
From the initial blood work to the final risk stratification score, this guide explains how we confirm a diagnosis of MDS and what you can expect during the evaluation process.
The diagnostic journey almost always begins with a Complete Blood Count (CBC). This routine test measures the number of red blood cells, white blood cells, and platelets in your blood. In patients with MDS, the CBC typically reveals cytopenias lower than normal counts in one or more of these cell lines.
However, low blood counts alone are not enough to diagnose MDS. Before proceeding to invasive tests, our doctors must “rule out” other common causes of bone marrow failure, such as:
If these reversible causes are ruled out and cytopenias persist, the next step is to examine the bone marrow directly.
Looking at the cells is not enough; we must also look at their genes. Cytogenetics is the study of chromosomes within the bone marrow cells. Roughly 50% of MDS patients have visible chromosomal abnormalities.
Common findings include:
In addition to standard cytogenetics, Liv Hospital employs Next-Generation Sequencing (NGS). This advanced technology scans for specific gene mutations (such as SF3B1, TET2, ASXL1, or TP53) that are too small to be seen on a standard chromosome map. These molecular markers are crucial for predicting how the disease will behave and for identifying patients who may benefit from targeted therapies.
The Bone Marrow Aspiration and Biopsy is the “gold standard” for diagnosing MDS. While the idea of a bone marrow test can be anxiety-inducing, it is a routine, safe, and quick procedure performed in our outpatient clinic.
The procedure involves two steps, usually taken from the back of the hip bone :
Is it painful?
At Liv Hospital, patient comfort is a priority. We use local anesthesia to numb the skin and the surface of the bone. Many patients also receive mild sedation to help them relax. Most patients report feeling pressure but minimal pain.
What do pathologists look for?
Under the microscope, our expert hematopathologists look for two key features:
Looking at the cells is not enough; we must also look at their genes. Cytogenetics is the study of chromosomes within the bone marrow cells. Roughly 50% of MDS patients have visible chromosomal abnormalities.
Common findings include:
In addition to standard cytogenetics, Liv Hospital employs Next-Generation Sequencing (NGS). This advanced technology scans for specific gene mutations (such as SF3B1, TET2, ASXL1, or TP53) that are too small to be seen on a standard chromosome map. These molecular markers are crucial for predicting how the disease will behave and for identifying patients who may benefit from targeted therapies.
Once the diagnosis is confirmed, the most important question is: “How serious is it?” To answer this, doctors use the Revised International Prognostic Scoring System (IPSS-R).
This system calculates a score based on five factors:
Based on the total score, patients are placed into one of five risk groups:
This score is the foundation of your personalized treatment plan at Liv Hospital.
Sometimes, MDS can look very similar to other bone marrow disorders. Misdiagnosis is a risk if the evaluation is not comprehensive.
Our multidisciplinary tumor board reviews every case to ensure the diagnosis is accurate before any treatment begins.
Send us all your questions or requests, and our expert team will assist you.
Most patients feel a sharp sting when the numbing medicine is injected and a brief sensation of pressure or “tugging” during the aspiration. The pain is generally mild and short-lived.
Initial results from the biopsy (morphology) are usually available within 24-48 hours. Genetic testing (cytogenetics and NGS) takes longer, typically 7-14 days, as the cells need time to grow in the lab.
A blast is an immature blood cell that has not yet finished developing. In healthy marrow, they are rare (<5%). In MDS, they accumulate and crowd out healthy cells.
No. While blood tests show that something is wrong (low counts), they cannot prove why. Only a bone marrow biopsy can confirm the dysplastic changes and genetic mutations required for an MDS diagnosis.
High-risk MDS means the disease has many blasts or poor genetics, leading to a high chance of becoming acute leukemia (AML) within a few years or months. This requires aggressive treatment immediately.
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