Blood tests

Blood tests can help to detect abnormalities in the blood cells counts. A reduced blood count can raise the suspicion of blood or marrow disorders.

Blood tests can also help to detect any abnormalities in the size, appearance, and shape of the blood cells.

Bone marrow biopsy

A bone marrow biopsy and aspiration involve the insertion of a thin needle into a long bone of the body to withdraw a small amount of marrow. The sample can be tested in a laboratory to detect any abnormalities linked to MDS.Specific tests are performed on the bone marrow aspirate including:

• Immunophenotyping
  Immunophenotyping is a specialist test that is performed on either a blood sample or bone marrow aspirate sample. The patient sample is analysed through a machine known as a flow cytometer, which allows identification of abnormal markers which are present on the surface of white cells.
  Immunophenotyping allows for the detection of blood cancers, and aids in the classification of the sub-type of the blood cancers. In addition, as the test can detect even small amounts of residual disease in the blood or bone marrow, it is used following treatment to assess disease response.
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• Cytogenetic tests
  Genetic tests of the bone marrow can help to confirm the diagnosis of MDS. The results of these studies can also be useful for determining how the disease will progress in the future.
  This test involves the examination of the chromosomes in the cells of the marrow sample taken during a biopsy. It can help to detect mutations in the chromosomes that can affect the functions of the bone marrow and trigger the development of MDS.
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• Molecular testing
  Increasingly, there are several recognised molecular genetic abnormalities (mutations) in MDS cells that are linked to prognosis. Molecular testing provides information on the risk group of MDS patients. In addition, monitoring of the level of known mutations in patients often also allows us to measure the response of patients to therapy, even when there may be only very small levels of MDS disease in the bone marrow.

The prognosis of MDS is determined by several factors including the risk category, the presence of other medical conditions as well as age.

One of the most established prognostic scoring systems is the IPSS-R (International Prognostic Scoring System – Revised). This score is based on various patient factors including the haemoglobin level, neutrophil count, platelet count, bone marrow blasts and the cytogenetic category. The score helps to determine if a patient has low risk MDS or high risk MDS. Patients with low risk MDS tend to live for longer without the need for intervention. However, patients with high risk MDS generally require treatment sooner and may have a shorter life expectancy.

The IPSS-R (International Prognostic Scoring System – Revised) is a scoring system that helps to classify MDS patients at diagnosis into 1 of 5 groups. Patients are categorised from very low risk to very high risk groups based on 1) their risk of transformation to acute myeloid leukaemia (AML) and 2) risk of mortality.

Early-stage or low-risk MDS patients often have little or no symptoms from their MDS. Their blood counts may be lower than normal and they have a lower need for blood transfusion support.

Low-risk MDS patients usually have favourable or standard risk features on their bone marrow assessment for myeloblasts, cytogenetics and molecular mutations.

The IPSS-R (International Prognostic Scoring System – Revised) is a scoring system that helps to classify MDS patients at diagnosis into 1 of 5 groups. Patients are categorised from very low risk to very high risk groups based on 1) their risk of transformation to acute myeloid leukaemia (AML) and 2) risk of mortality.

Patients with high-risk MDS often have low blood counts and are symptomatic (lethargy, increased infections or bruising and bleeding).

High-risk patients will have an increased number of abnormal (myeloblast) cells in their bone marrow and often have poor risk features (such as high-risk cytogenetics or molecular mutations).

In the vast majority of cases, MDS is not inherited, meaning MDS is not passed from parent to child within a family.

The rate of progression of MDS to leukaemia is related to the severity of the underlying MDS. This is determined by factors including the extent of abnormalities in the full blood count, the genetic (cytogenetic) profile of the MDS, the mutation profile of the MDS (on next-generation sequencing), and whether there are blasts present on the bone marrow assessment.

Prognostic scoring systems like the IPSS-R (International Prognostic Scoring System – Revised) help to determine a patient’s risk of progression to AML.

Many patients with early or low-risk MDS may not have any symptoms, and the condition is sometimes found by blood tests done for other reasons.

However, many MDS patients may experience generalised symptoms, such as feeling tired or weak, losing weight without trying to, having a fever, getting black and blue marks or bleeding easily.

For patients with intermediate to high risk MDS, the disease will gradually progress without treatment, eventually leading to acute leukaemia, a life-threatening condition.

Some patients with very low risk MDS, on the other hand, may not require treatment or may only require supportive care with blood transfusions.

The prognosis of MDS is determined by several factors, including the risk category, the presence of other medical conditions, and age.

The IPSS-R (International Prognostic Scoring System – Revised) helps determine if a patient has low-risk or high-risk MDS. Patients with low risk MDS tend to live for longer without the need for intervention. However, patients with high risk MDS generally require treatment sooner and may have a shorter life expectancy.

The IPSS-R gives a general estimate of the time/risk of a patient to 1) develop acute myeloid leukaemia and 2) overall survival.

Many forms of lower-risk MDS can be managed with supportive care and/or treatments, with patients maintaining a good quality of life.

For patients with higher-risk MDS, though, the condition has an increased risk of progression to acute leukaemia over time. As such, bone marrow transplantation is the only curative option.

There are drug therapies for patients who are not eligible for transplantation to treat the underlying high-risk MDS effectively. However, there remains a high risk of disease relapse and progression.

Low-risk MDS patients may not require any blood transfusions, and some subtypes of MDS patients with anaemia may respond well to medications that stimulate the production of red cells. There are also targeted drugs that improve the underlying MDS and boost the red cell count.

If you require transfusions, the frequency will vary between patients; some need transfusions every few months while others need one every couple of weeks. Very often, once a patient has started having regular blood transfusions, the length of time between transfusions will gradually get shorter.

These drugs encourage the growth of more healthy white and red blood cells. This will decrease the number of blood transfusions you may need.

Lenalidomide is used to treat low-risk MDS. It can inhibit the formation of new blood vessels in the affected tissues and prevent the survival of abnormal cells so that less blood transfusions are needed.

Epigenetics agents like 5-azacitidine inhibits the cellular processes controlled by genes that are involved in MDS development. By reversing the genes that are suppressed in the bone marrow, the epigenetics agents help to restore a healthy bone marrow.

Engraftment refers to transplanted stem cells settling into the bone marrow to begin creating new blood cells.

It typically takes between 10-14 days after the transplant for engraftment to occur.

A bone marrow transplant can fail if the body does not accept the new donor cells. This is known as graft failure and is suspected in patients whose counts do not increase after three to four weeks following a bone marrow transplant.

Graft failure can result in severe bleeding and infection and is more likely to occur in patients who receive a lower number of stem cells or when the patient and donor are not well matched.

Should a patient’s graft fail, they can receive a second dose of stem cells from the original donor. Sometimes a second transplant from a different donor is required.

The cost of a bone marrow transplantation depends on several factors, which include the type of transplant (autologous vs allogeneic), type of donor (related, vs unrelated, vs haploidentical) as well as the disease status of the patient and whether any potential complexities are expected for the procedure.

At CFCH, our team will work to establish the most appropriate treatment strategies for your condition. If a bone marrow transplantation is required, a detailed transparent breakdown of the costs will be provided upfront to you.

If you are concerned about the costs required for your bone marrow transplant, feel free to get in touch with us. We will be happy to help you understand the various fees involved.

MDS is a disease of the elderly, and the incidence of MDS increases significantly above the age of 60.

The only curative therapy for MDS remains an allogeneic haematopoietic stem cell transplantation (bone marrow transplant). However, many older patients are often unsuitable candidates due to the high risk of the disease.

The treatment for MDS in older patients depends on the stage of the disease, your age, and your overall physical status.

• Supportive care, including blood transfusions and drugs to boost the blood counts
• Immunosuppressive or immunomodulating agents (usually for lower-risk MDS)
• Targeted chemotherapy drugs (usually for higher-risk MDS)
• Stem Cell Transplantation

Our haematologists at CFCH will discuss the MDS treatment options with you and your family to work out the best-tailored treatment plan for you.

The cost of treating Myelodysplastic Syndromes varies depending on the therapy required. This is dependent on the stage of MDS, the age of the patient and the extent of co-morbidities of the patient.

Some MDS patients may not need any treatment or supportive care, while others may require intensive chemotherapy and even an allogeneic haematopoietic stem cell transplantation.

Our doctors at CFCH will evaluate your medical condition and assist in providing a detailed medical treatment plan, including the estimates of treatment costs.

At the present moment, an allogeneic haematopoietic stem cell transplantation is the only form of curative therapy for MDS.

However, other forms of less intensive therapies are available for MDS, which can often be effective in stabilising the condition and improving quality of life. There are newer directed therapies for MDS, such as the oral drug venetoclax, which has been used together with 5-azacitidine in the treatment of higher-risk MDS.

Our doctors at CFCH will evaluate your medical condition and assist in providing a detailed medical treatment plan, including the most appropriate therapies.