Myelodysplastic Syndromes (MDS)

Symptoms of Myelodysplastic Syndromes (MDS)

Symptoms of MDS are similar to other medical conditions. It is important to see your doctor if you experience any symptoms so we can provide a prompt and accurate diagnosis.

Symptoms of MDS include:

  • Shortness of breath
  • Weakness or feeling tired
  • Easy bruising or bleeding
  • Petechiae (flat, pinpoint spots under the skin caused by bleeding)

MDS Diagnosis

If you experience these symptoms, we will use specialized tests to diagnose MDS.

Diagnostic Tests for MDS

If you experience any symptoms of MDS, we will use a combination of tests to confirm a diagnosis.

A number of tests may be used to diagnose MDS, including:

  • Physical exam and history
  • Biopsy
  • Bone marrow aspiration and biopsy
  • Chest X-Ray
  • Blood tests:
    • Blood chemistry study
    • Complete blood count (CBC)
    • Cytogenetic analysis
    • Immunophenotyping
    • Peripheral blood smear

MDS Treatment

Once we confirm a diagnosis of MDS, we will stage the disease to determine how advanced it is. Then, we can tailor an effective treatment plan that will offer you the best outcome.

Myelodysplastic Syndromes (MDS) Staging

MDS Staging: French American British (FAB) Classification

  • Refractory anemia (RA): <5% marrow blasts
  • Refractory anemia with ring sideroblasts (RARS)
  • Refractory anemia with excess blasts (RAEB): 5-20% blasts (now called AML)
  • Refractory anemia with excess blasts in transformation (RAEB-T): 21-30% blasts
  • Chronic myelomonocytic leukemia (CMML):  5-20% blasts

Acute myeloid leukemia (AML) is considered to be associated with >30% marrow blasts.

MDS Staging: World Health Organization Typing System

A newer, slightly more complicated system for classifying MDS has been developed by the World Health Organization (WHO). Along with the cell type and maturity of the cells, this system takes into account other factors, such as chromosome changes in the cells and whether or not the leukemia is the result of previous cancer treatments. It classifies MDS according to factors that differ from those of the FAB system, including:

  • Considers molecular and chromosomal (cytogenetic) data
  • Defines RAEB-T to be a leukemia rather than a subtype of MDS
  • Defines patients with more than 20% blasts in marrow as having acute myeloid leukemia (AML)
  • Includes the category of myelodysplastic syndromes/myeloproliferative diseases (MDS/MPD)
  • Includes juvenile myelomonocytic leukemia (JMML) and chronic myelomonocytic leukemia (CMML) in the MDS/MPD category

According to the WHO typing system, MDS includes the following subtypes:

  • Refractory cytopenia with unilineage dysplasia (RCUD), which includes subtypes:
    • Refractory anemia (RA)
    • Refractory neutropenia (RN)
    • Refractory thrombocytopenia (RT)
  • Refractory cytopenia with multilineage dysplasia (RCMD): <5% blasts
  • Refractory anemia with ring sideroblasts (RARS): <5% blasts with RS
  • Refractory anemia with excess blasts type 1 (RAEB-1): 5-9% blasts
  • Refractory anemia with excess blasts type 2 (RAEB-2): 10-19% blasts
  • MDS with isolated deletion 5q (5q-syndrome): <5% blasts
  • Unclassifiable MDS (MDS-u)

MDS Staging: International Prognostic Scoring System (IPSS)

The International Prognostic Scoring System (IPSS) aids doctors in assessing the severity of a patient’s MDS. The IPSS uses three “prognostic indicators” to predict the course of the patient’s disease:

  • The percentage of blast cells in the marrow
  • The type of chromosomal changes, if any, in the marrow cells
  • The presence of one or more low blood cell counts (cytopenias)

Each indicator is rated according to its severity, and doctors come up with a “score” that describes the patient’s risk. Risk categories are:

  • Low
  • Intermediate-1
  • Intermediate-2
  • High

The low and intermediate categories are sometimes combined into a lower risk group; the intermediate-2 and high categories are sometimes combined into a higher risk group.

A treatment plan is designed around the patient’s score and the doctor’s personal observations of the patient.

MDS Staging: Revised International Prognostic Scoring System (IPSS-R)

Our program also uses the revised International Prognostic Scoring System (the IPSS-R) for Myelodysplastic Syndromes. This revised IPSS-R includes five rather than three cytogenetic prognostic subgroups with specific and new classifications of a number of less common cytogenetic subsets, splitting the low marrow blast percentage value, and depth of low blood counts (cytopenias). In addition to the major prognostic variables of marrow blasts, cytogenetics and peripheral low blood counts, cytopenias, additive features for survival include patient age, performance status, serum ferritin and LDH.