Myelodysplastic Syndrome

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    Myelodysplastic syndromes are a group of diseases in which the bone marrow does not make enough healthy blood cells. It is also called preleukemia or smoldering leukemia. Learn about myelodysplastic syndromes and find information on how we support and care for children and teens before, during, and after treatment.

The Blood Disorders Center provides comprehensive diagnosis, treatment and preventive services for children and adolescents with all forms of non-malignant blood disorders and diseases.

The Blood Disorders Center features programs specializing in the treatment of blood clots, bone marrow failure, hemophilia, myelodysplastic syndrome, platelet function disorder, rare anemias and iron disorders, sickle cell disease and thalassemia.

From your child's first appointment, you will meet with medical experts and other professionals to help with all aspects your family's well-being and peace of mind during your child's care.

A highly experienced team of hematologists, immunologists, pathologists, registered nurses, social workers, clinical dietitians and other health professionals will work together to create a comprehensive care plan for your child.

We believe that families are especially important in the long-term health management plans of children with blood disorders, so we involve parents and families in making decisions about a patient's care throughout treatment.

Learn more about our Blood Disorders Center.

Information for: Patients | Healthcare Professionals

Myelodysplastic Syndrome

Overview

Normally, the bone marrow produces all of the blood cells your child’s body needs. Myelodysplastic syndrome (MDS) is a rare disease that results in improper and insufficient blood cell formation. Most of the time it develops in older patients (over 60 years old), but it can occur at any age and affect children as well.

  • MDS occurs when the bone marrow does not properly produce sufficient numbers of healthy red blood cells, white blood cells and platelets.
  • MDS is very rare in children, and children get different types of MDS than adults. It only occurs in 4 out of every million children.
  • MDS may be hereditary or caused by another event or illness, but often there is no known cause.
  • MDS used to be called “smoldering leukemia” or “pre-leukemia,” but only about one-third of cases of MDS actually progress to leukemia.
  • In most instances, the only cure for children with MDS is a stem cell transplant.

How Dana-Farber/Boston Children's Cancer and Blood Disorders Center approaches Myelodysplastic syndrome

Dana-Farber/Boston Children's Cancer and Blood Disorders Center is a national pediatric hematology oncology referral center, with one of the nation’s most experienced, multidisciplinary team at diagnosis and treating pediatric MDS.

If your child is cared for at Dana-Farber/Boston Children's, she’ll be seen through our Pediatric Myelodysplastic Syndrome Specialty Care Program. 

  • We offer specialized diagnostic and treatment options, including stem cell transplantation.
  • We offer direct referral to Dana-Farber/Boston Children's Pediatric Stem Cell Transplant Program, one of the nation’s oldest and most experienced pediatric stem cell transplant programs.
  • Boston Children's Hospital has recently established the first nationwide patient registry and tissue repository for Pediatric MDS and bone marrow failure disorders. This National Institutes of Health (NIH)-funded project will help us better understand MDS and identify potential new treatments.

In-depth

We understand how overwhelming a diagnosis of myelodysplastic syndrome can be. Right now, you probably have a lot of questions. How dangerous is this condition? What is the very best treatment? What do we do next?

We’ve tried to provide some answers to those questions here, and our expert pediatric subspecialists can explain your child’s condition fully when you meet with us.

What is myelodysplastic syndrome?

Myelodysplastic syndrome (MDS) is a rare disease of the blood. Most of the time it develops in older patients (over 60 years old), but it can occur at any age and affect children as well. MDS develops in the bone marrow, the soft, spongy center of the long bones that produces the three major blood cells:

  • white blood cells to fight infection,
  • red blood cells that carry oxygen, and
  • platelets that help blood clot and stop bleeding.

MDS occurs when the bone marrow does not properly produce sufficient numbers of healthy red blood cells, white blood cells and platelets. With this disease, the blood cells lose their ability to mature and function properly.

In normal bone marrow, the growth and development of blood cells is carefully controlled to produce the correct number of each type of blood cell to keep the body healthy.

All blood cells (while blood cells, red blood cells and platelets) are made from the start in the bone marrow from a single type of a cell called a stem cell. Stem cells make up a very small portion of all the cells in the bone marrow. When more cells are needed, the bone marrow activates stem cells to rapidly produce more blood cells.

  • In MDS, this process of maturation from a stem cell into a mature cell is disturbed.
  • Red and white blood cells may mature, but not normally or in insufficient numbers.
  • Sometimes the number of immature blood cells, called blasts, increases.
  • As the disease progresses, these blasts continue to increase and invade the bone marrow, preventing it from working effectively.

MDS used to be called “smoldering leukemia” or “pre-leukemia,” but only about one-third of cases of MDS actually progress to leukemia. Leukemia is a cancer of the blood and bone marrow. As you read further below, you will find general information about MDS. If you would like to view summary information about cancer first, see the cancer overview.

What causes MDS?

Pediatric MDS is a very rare condition. It only occurs in 4 out of every million children.

  • Most of the time MDS develops in previously healthy children, with no identifiable cause.
  • In some patients, MDS occurs secondary to some other event or illness. We call this secondary MDS. It can occur in patients who have had chemotherapy or radiation therapy for another illness or malignancy.
  • Other patients have rare underlying conditions of their bone marrow called inherited bone marrow failure disorders.

Many patients with MDS have a chromosomal abnormality associated with the disease; however, these changes are not inherited from someone in the family. Instead, these abnormalities are changes in the chromosomes that only exist in the diseased blood and bone marrow cells.

  • The most common abnormalities occur in chromosomes 5 and 7 and 8.
  • These acquired chromosomal alterations are thought to play a role in the development of the disease.
  • Certain congenital chromosomal disorders, including Down syndrome, are also associated with an increased risk for the development of childhood MDS and leukemia.
What are the different types of MDS?

There are two different major categories of myelodysplastic syndrome: primary and secondary.

  • In primary MDS, the disease occurs for no known reason. This group also includes MDS that runs in families.
  • In secondary MDS, the disease is caused by another condition. This group includes MDS resulting from previous chemotherapy or radiation therapy. It also includes MDS caused by inherited bone marrow failure disorders, such as Fanconi anemia.

Physicians have identified several sub-types of MDS, based on how blood and marrow cells appear under the microscope. However, they are largely classified by the fraction of blasts (immature blood cells) found in the marrow and blood. The subtypes that have been identified in children are somewhat different then the ones physicians have identified for adults and older people.

The types of MDS in children are:

  • Refractory cytopenia (RC) — less than 5 percent blasts in bone marrow
  • Refractory anemia with excess blasts (RAEB) — 5-20% of blasts in the bone marrow
  • RAEB in transformation (RAEB-t) — 21-30% of blasts in the bone marrow

When the amount of blasts in a child’s bone marrow exceeds 30 percent, the condition is considered to be acute myelogenous leukemia.

When MDS predominantly affects white blood cells, the immature forms of white blood cells (blasts) increase in number and the number of mature white blood cells typically decrease.

  • It is normal to have a small number of blasts even in a healthy bone marrow (up to 5%).
  • However, in MDS patients with number often increases over 5%, which is then called Refractory Anemia with Excess Blasts (RAEB).
  • If the blasts become especially numerous and the disease gains more and more the appearance of acute myeloid leukemia (AML), the disease is called Refractory Anemia with Excess Blasts in transformation (RAEB-t).
  • AML is a type of leukemia characterized by an increase in a particular type of white blood cell. AML that has developed after MDS is, in general, much harder to cure than "de novo" AML (regular AML that started anew without any underlying MDS or other disease).

In adults other forms of MDS have been described and include:

  • Refractory anemia (RA) — less than 5 percent blasts in bone marrow. The developing red cells in the bone marrow are often unable to process iron properly. RA is the adult equivalent to the childhood RC mentioned above.
  • Refractory anemia with ringed sideroblasts (RAS) — less than 15 percent blasts. Developing red cells in the bone marrow are unable to process the iron that normally goes into hemoglobin. The iron is then deposited inside the red blood cells and forms a "ring" that can be seen under a microscope. This from of MDS is common in older people but almost never occurs in children.
  • Refractory cytopenia with multi-lineage dysplasia (RCMD) — less than 5% blasts in the bone marrow. Two or all three of the developing bone marrow cells (red cells, white cells and platelets) are not maturing and developing properly and appear abnormal (dysplastic). The significance of this degree of dysplasia remains unclear in children.
  • MDS with isolated del (5q) (5q- syndrome) — less than 5% blasts in the bone marrow. The syndrome is characterized by a specific abnormality in one of the chromosomes (link to chromosomes), where a part of the 5th chromosome is deleted (absent). This syndrome does usually not occur in children.

Symptoms

What are the symptoms of MDS?

Because MDS is a disease of the blood-forming tissue called the bone marrow, initial symptoms are often related to abnormal bone marrow function. The bone marrow is responsible for producing the body's blood cells, including the red blood cells, white blood cells, and platelets. Sometimes MDS is discovered when a child is having a routine blood test for other reasons.

The most common symptoms of MDS include:

  • Anemia — Anemia occurs when red blood cells are not produced properly or in inadequate numbers the amount of the oxygen carrying protein hemoglobin is decreased. With anemia, the child may appear tired, pale, and may breathe faster to compensate for the decrease in the ability to deliver oxygen to the body.
  • Bleeding — In MDS platelets, which help stop bleeding, are often reduced. Therefore patients with MDS may experience bruising or abnormal bleeding (prolonged nose bleeds, bleeding from the gums).
  • Infections — In many cases of MDS the type of white blood cells that fight off bacterial infections (neutrophils) can be very low. This condition is called neutropenia. Neutropenia may be the result of a failure of immature precursors in the bone marrow to mature or an increase in blasts that crowds out normal cells in the bone marrow. In other cases of MDS, the white cell count can be unusually high.

In both cases, there are not enough normal healthy white blood cells present in the blood to fight infection. The child may have had repetitive infections or even serious infections with high fevers.

It is important to understand that the symptoms of MDS may resemble other blood disorders or medical problems, some of them which are very common and easy to treat, others which could be more serious. The symptoms listed above are common presentations of the disease, but do not include all possible symptoms.

Your child may experience symptoms differently. Therefore, it is important to be evaluated by a physician to obtain an accurate diagnosis. Always consult your child's physician if you have concerns.

Questions to ask your child’s doctor

After your child is diagnosed with MDS, you may feel overwhelmed with information. It can be easy to lose track of the questions that occur to you.

Lots of parents find it helpful to jot down questions as they arise – that way, when you talk to your child’s doctors, you can be sure that all of your concerns are addressed.

If your child is old enough, you may want to suggest that she write down what she wants to ask her health care provider, too.

Some of the questions you may want to ask include:

  • What type of myelodysplastic syndrome does my child have?
  • How will my child’s symptoms be managed?
  • Can my child receive a stem cell transplant?
  • How long will my child need to be in the hospital?
  • What are the possible short and long-term complications of treatment? How will they be addressed?
  • What is the likelihood of cure?
  • What services are available to help my child and my family cope?

FAQ

Q: Where will my child be treated?

A: Children treated through Pediatric Myelodysplastic Syndromes Specialty Care will receive outpatient care through Dana-Farber/Boston Children's. If your child receives a stem cell transplant, she will see doctors at the Jimmy Fund Clinic at Dana-Farber and will stay in Boston Children's Hospital's specialized stem cell transplant unit.

Q: What services are available to help my child and my family cope?

A: We offer a variety of services to help you, your child, and your family get through this difficult time.

Q: What is the expected outcome after treatment for myelodysplastic syndromes?

A: A child’s prognosis greatly depends on:

  • The specific diagnostic category of MDS, chromosomal abnormalities, and the number of blasts in the blood and bone marrow
  • Whether the MDS is a primary disorder or secondary to another disease
  • The availability of a suitable bone marrow transplantation donor.

Your child’s physician is available to answer questions about treatment options and outcomes.

Tests

The first step in treating your child is forming an accurate and complete diagnosis. Your child’s physician may order a number of different tests to determine the type and severity of MDS. In addition to a complete medical history and physical examination, myelodysplastic syndrome (MDS) can only be diagnosed accurately by a full evaluation of the blood and bone marrow.

To diagnose MDS, your child’s physician may order some or all of the following tests:

  • Complete blood count (CBC) — a measurement of size, number, and maturity of different blood cells in blood, which tells us if the bone marrow is working properly. If the results are abnormal a bone marrow test might be indicated.
  • Additional blood tests — may include blood chemistries, evaluation of liver and kidney functions, and genetic studie.
  • Bone marrow aspiration and biopsy — A bone marrow sample is usually taken from the back of the hipbone. A sample is removed by inserting a needle into the hipbone and sucking out some of the liquid part of the marrow with a syringe (a bone marrow aspirate). In addition, a small piece of the spongy bone containing intact marrow may be obtained (a bone marrow biopsy).

    This procedure is usually done under local anesthesia and some sedation to limit pain or discomfort. The samples will be examined under the microscope by one of our expert pediatric hematopathologists. In most cases, doctors will perform additional special tests on the bone marrow such as chromosomal analysis (see below).
  • Chromosomal analysis — This test is also called cytogenetic testing. It evaluates all of our chromosomes, which carry our genetic information, to detect any abnormalities. The test usually takes about one week. Cytogenetic studies often help to confirm the diagnosis of MDS and can help distinguish it from certain forms of leukemia. This is important to help physicians tailor treatment to the specific disease.

MDS is often more difficult to diagnose than other disorders of the bone marrow and takes an expertise physician and pathologist to make the correct diagnosis. This is particularly true for children. Therefore the diagnostic process may take time and occasionally repeated blood and bone marrow tests are needed to make the diagnosis with certainty.

After we complete all necessary tests, our experts meet to review and discuss what they have learned about your child's condition. Then we will meet with you and your family to discuss the results and outline the best treatment options.

Treatment and care

We know how difficult a diagnosis of myelodysplastic syndrome can be, both for your child and for your whole family. That’s why our physicians are focused on family-centered care: From your first visit, you’ll work with a team of professionals who are committed to supporting all of your family’s physical and psychosocial needs. We’ll work with you to create a care plan that’s best for your child.

If your child has been diagnosed with myelodysplastic syndrome, you’ll naturally be eager to know how your child’s physician will treat it. Your child’s physician will determine a specific course of treatment based on several factors, including:

  • your child's age, overall health and medical history
  • the type and severity of MDS
  • your child's tolerance for specific medications, procedures or therapies
  • how your child's doctors expects the disease to progress
  • the availability of a suitable stem cell donor
What are the treatments for MDS?
  • Treatment usually begins with supportive care, which intends to control and treat the consequences of the disease, but not to eradicate it.
  • Children may receive a transfusion of red cells and platelets to improve symptoms of anemia and to prevent bleeding.
  • Because patients with MDS are at higher risk of developing infections, immediate evaluation by a health care provider for any fevers is critical.
  • Treatment with antibiotics is often necessary and important, when a child has a fever.

Chemotherapy is usually used for the treatment of cancers, including leukemia. However, chemotherapy is not typically useful for the treatment of MDS. Chemotherapy is used to prepare children with MDS for a stem cell transplant.

In almost all instances, MDS in children can only be cured through a bone marrow transplant also known as a hematopoietic stem cell transplant (HSCT).

  • HSCT uses high doses of chemotherapy or radiation therapy to destroy all the cells in the bone marrow, healthy and diseased ones.
  • Healthy cells from the bone marrow of another person are given through an infusion to the patient to restore the bone marrow that was previously destroyed by the chemo- and/or radiation therapy.
  • The use of stem cells from another individual whose tissue is the same as, or almost the same as, the patient's is called allogeneic transplantation.
  • The donor cells may come from a relative, usually a sibling, or an unrelated individual.

Continuous follow-up care to determine response to treatment, detect recurrent disease, and manage late effects of treatment is critical. Frequent examinations by a specialist and laboratory test (including repeat bone marrow examinations) are most important for a successful management of disease.

What is the prognosis for a child with MDS?

Prognosis greatly depends on:

  • The specific diagnostic category of MDS, chromosomal abnormalities, and the number of blasts in the blood and bone marrow.
  • Whether the MDS is a primary disorder or secondary to another disease.
  • The availability of a suitable bone marrow transplantation donor.

As with any serious medical condition, prognosis and long-term survival can vary greatly from child to child. Prompt medical attention and aggressive therapy are important for the best prognosis. Continuous follow-up care is essential for the child diagnosed with MDS. Side effects of chemotherapy, as well as second malignancies, can occur in survivors of MDS. New methods are continually being discovered to improve treatment and to decrease side effects of the treatment for the disease.

Coping and support

We understand that you may have a lot of questions if your child is diagnosed with MDS. Will it affect my child long term? What do we do next? We’ve tried to provide some answers to those questions in these pages, but there are also a number of other resources to help you and your family through this difficult time.

Patient education: From the first visit through follow-up care, our staff will be on hand to walk you through your child’s treatment and help answer any questions you may have — How long will my child be in the hospital? How often will my child require follow-up? They will also reach out to you by phone, continuing the care and support you received through Dana-Farber/Boston Children's.

Parent to parent: Want to talk with someone whose child has been treated for MDS? We can often put you in touch with other families who have been through the same experience that you and your child are facing, and share with you their experience at Dana-Farber/Boston Children's.

Faith-based support: If you are in need of spiritual support, we will help connect you with the chaplaincy. Our program includes nearly a dozen clergy representing Episcopal, Jewish, Lutheran, Muslim, Roman Catholic, Unitarian and United Church of Christ traditions who will listen to you, pray with you and help you observe your own faith practices during your hospital experience.

Social work: Our clinical social workers have helped many other families in your situation. Your social worker can offer counseling and assistance with issues such as coping with your child’s diagnosis, stresses relating to coping with illness and dealing with financial difficulties.

Palliative care: When necessary, our Pediatric Advanced Care Team (PACT) is available to provide supportive treatments intended to optimize the quality of life and promote healing and comfort for children with life-threatening illness. In addition, PACT can provide psychosocial support and help arrange end of life care when necessary.

Innovations and research

What is the latest research on MDS?

At the moment, very little is known about the initiating events that lead to MDS, therefore limited specific therapies exist and a hematopoietic stem cell transplantation is currently the only curative option to treat the disease.

Boston Children's Hospital received grant funding from the National Institute of Health (NIH) to establish the first nationwide patient registry and tissue repository for Pediatric MDS and bone marrow failure disorders. This will allow researchers and collaborating institutions to collect information and tissue samples to help us better understand this condition. Ultimately, we hope to identify new therapies for this condition which is currently only cured with a bone marrow transplant.

Myelodysplastic Syndrome

Overview

Myelodysplastic syndrome (MDS) is a rare disease of the blood. Most of the time it develops in older patients (over 60 years old), but it can occur at any age and affect children as well.

  • MDS occurs when the bone marrow does not properly produce sufficient numbers of healthy red blood cells, white blood cells and platelets.
  • MDS is very rare in children, and children get different types of MDS than adults.
  • MDS may be hereditary or caused by another event or illness, but often there is no known cause.
  • MDS used to be called smoldering leukemia or pre-leukemia, but only about one-third of cases of MDS actually progress to leukemia.
  • In most instances, the only curative treatment for children with MDS is a bone marrow or stem cell transplant.

How Dana-Farber/Children's Hospital Cancer Center approaches MDS

Dana-Farber/Children's Hospital Cancer Center is a national pediatric hematology/oncology referral center, with one of the nation's most experienced, multidisciplinary team at diagnosis and treating pediatric MDS.

  • We offer specialized diagnostic and treatment options, including stem cell transplantation.
     
  • We offer direct referral to Dana-Farber/Children's Hospital Cancer Care's Pediatric Stem Cell Transplant Program, one of only eight institutions around the country investigating the use of umbilical cord transplantation for children with MDS.
     
  • Boston Children's Hospital is establishing the first nationwide patient registry and tissue repository for Pediatric MDS and bone marrow failure disorders. This National Institute of Health (NIH)-funded project will help us better understand MDS and identify potential new treatments.
What is myelodysplastic syndrome?

Myelodysplastic syndrome (MDS) is a rare disease of the blood. Most of the time it develops in older patients (over 60 years old), but it can occur at any age and affect children as well. MDS develops in the bone marrow, the soft, spongy center of the long bones that produces the three major blood cells:

  • white blood cells to fight infection
  • red blood cells that carry oxygen
  • platelets that help blood clot and stop bleeding

MDS occurs when the bone marrow does not properly produce sufficient numbers of healthy red blood cells, white blood cells and platelets. With this disease, the blood cells lose their ability to mature and function properly.
 
In the normal bone marrow growth and development of blood cells is carefully controlled to produce the correct number of each type of blood cell to keep the body healthy. All blood cells (while blood cells, red blood cells and platelets) are made from the start in the bone marrow from a single type of a cell called a stem cell. Stem cells make up a very small portion of all the cells in the bone marrow. The stem cells are stored in the bone marrow until a specific type of cell is needed, for example a red cell. When more red cells are needed the bone marrow activates the stem cells in reserve to rapidly produce more red cells. At that time the stem cell matures and develops more and more into a red cell.

  • In MDS this process of maturation from a stem cell into a mature cell is disturbed.
  • Red and white blood cells may mature, but not normally or in insufficient numbers.
  • Sometimes the number of immature blood cells, called blasts, increases.
  • As the disease progresses these blasts continue to increase and invade the bone marrow, making it impossible to work effectively.

MDS used to be called smoldering leukemia or pre-leukemia, but only about one-third of cases of MDS actually progress to leukemia. Leukemia is a cancer of the blood and bone marrow. As you read further below, you will find general information about MDS.

What causes MDS?

MDS occurs in 4 out of one million children.

  • Most of the time MDS develops in previously healthy children, with no identifiable cause.
     
  • In some patients, MDS occurs secondary to some other event or illness. We call this secondary MDS. It can occur in patients who have had chemotherapy or radiation therapy for another illness or malignancy.
     
  • Other patients have rare underlying conditions of their bone marrow called inheritedbone marrow failure disorders.

Many patients with MDS have a chromosomal abnormality associated with the disease; however, these changes are not inherited from someone in the family. Instead, these abnormalities are changes in the chromosomes that only exist in the diseased blood and bone marrow cells.

  • The most common abnormalities occur in chromosomes 5 and 7 and 8.
  • These acquired chromosomal alterations are thought to play a role in the development of the disease.
  • Certain congenital chromosomal disorders, including Down syndrome, are also associated with an increased risk for the development of childhood MDS and leukemia.
What are the different types of MDS?

Physicians have identified several types of MDS, based on how blood and marrow cells appear under the microscope. However, they are largely classified by the fraction of blasts (immature blood cells) found in the marrow and blood. The subtypes that have been identified in children are somewhat different then the ones physicians have identified for adults and older people.
 
The types of MDS in children are: 

  • Refractory cytopenia (RC) - less than 5 percent blasts in bone marrow     
  • Refractory anemia with excess blasts (RAEB) - 5-20% of blasts in the bone marrow     
  • RAEB in transformation (RAEB-t) - 21-30% of blasts in the bone marrow     

When MDS predominantly affects white blood cells, the immature forms of white blood cells (blasts) increase in number and the number of mature white blood cells typically decrease.

  • It is normal to have a small number of blasts even in a healthy bone marrow (up to 5%).
  • However, in MDS patients with number often increases over 5%, which is then called Refractory Anemia with Excess Blasts (RAEB).
  • If the blasts become especially numerous and the disease gains more and more the appearance of acute myeloid leukemia (AML), the disease is called Refractory Anemia with Excess Blasts in transformation (RAEB-t).
  • AML is a type of leukemia characterized by an increase in a particular type of white blood cell. AML that has developed after MDS is, in general, much harder to cure than "de novo" AML (regular AML that started anew without any underlying MDS or other disease).
What are the symptoms of MDS?

The most common symptoms of MDS are:

  • Anemia -- Anemia occurs when red blood cells are not produced properly or in inadequate numbers the amount of the oxygen carrying protein hemoglobin is decreased. With anemia, the child may appear tired, pale, and may breathe faster to compensate for the decrease in the ability to deliver oxygen to the body.
     
  • Infections -- In many cases of MDS the type of white blood cells that fight off bacterial infections (neutrophils) can be very low. This condition is called neutropenia. Neutropenia may be the result of a failure of immature precursors in the bone marrow to mature or an increase in blasts that crowds out normal cells in the bone marrow. In other cases of MDS the white cell count can be unusually high. In both cases there are not enough normal healthy white blood cells present in the blood to fight infection. The child may have had repetitive infections or even serious infections with high fevers.
     
  • Bleeding -- In MDS platelets, which help stop bleeding, are often reduced. Therefore patients with MDS may experience bruising or abnormal bleeding (prolonged nose bleeds, bleeding from the gums). 

It is important to understand that the symptoms of MDS may resemble other blood disorders or medical problems, some of them which are very common and simple, others which could be more serious. The symptoms listed above are common presentations of the disease, but do not include all possible symptoms. Children may experience symptoms differently.

How is Myelodysplastic Syndrome diagnosed?

In addition to a complete medical history and physical examination, myelodysplastic syndrome (MDS) can only be diagnosed accurately by a full evaluation of the blood and bone marrow.
 
To diagnose MDS the following test might be preformed:

  • Complete blood count (CBC) - a measurement of size, number, and maturity of different blood cells in blood, which tells us if the bone marrow is working properly. If the results are abnormal a bone marrow test might be indicated.

     
  • Additional blood tests - may include blood chemistries, evaluation of liver and kidney functions, and genetic studies.
     
  • Bone marrow aspiration and biopsy -- A bone marrow sample is usually taken from the back of the hipbone. A sample is removed by inserting a needle into the hipbone and sucking out some of the liquid part of the marrow with a syringe (a bone marrow aspirate). In addition a small piece of the spongy bone containing intact marrow may be obtained (a bone marrow biopsy). The procedure is usually done under local anesthesia and some sedation to limit pain or discomfort. Both, the aspirate and the biopsy will be examined by an expert pathologist (a pediatric hematopathologist) under the microscope. In most cases doctors will perform additional special tests on the bone marrow such as chromosomal analysis (see below).

     
  • Chromosomal analysis -- This test is also called cytogenetic testing. It evaluates all of our chromosomes, which carry our genetic information, to detect any abnormalities. The test usually takes about one week. Cytogenetic studies often help to confirm the diagnosis of MDS and can help distinguish it from certain forms of leukemia. This is important to help physicians tailor treatment to the specific disease.

MDS is often more difficult to diagnose than other disorders of the bone marrow and takes an expertise physician and pathologist to make the correct diagnosis. This is particularly true for children. Therefore the diagnostic process may take time and occasionally repeated blood and bone marrow tests are needed to make the diagnosis with certainty.

What are the treatments for MDS?

Treatment usually begins with supportive care, which intends to control and treat the consequences of the disease, but not to eradicate it.

  • Children may receive a transfusion of red cells and platelets to improve symptoms of anemia and to prevent bleeding.
  • Because patients with MDS are at higher risk of developing infections, immediate evaluation by a health care provider for any fevers is critical.
  • Treatment with antibiotics is often necessary and important, when a child has a fever.

Chemotherapy is usually used for the treatment of cancers, including leukemia. However, chemotherapy is not typically useful for the treatment of MDS.

In almost all instances, MDS in children can only be cured through a bone marrow transplant also known as a hematopoietic stem cell transplant (HSCT).

  • HSCT uses high doses of chemotherapy or radiation therapy to destroy all the cells in the bone marrow, healthy and diseased ones.
  • Healthy cells from the bone marrow of another person are given through an infusion to the patient to restore the bone marrow that was previously destroyed by the chemo- and/or radiation therapy.
  • The use of stem cells from another individual whose tissue is the same as, or almost the same as, the patient's is called allogeneic transplantation.
  • The donor cells may come from a relative, usually a sibling, or an unrelated individual.

Continuous follow-up care to determine response to treatment, detect recurrent disease, and manage late effects of treatment is critical. Frequent examinations by a specialist and laboratory test (including repeat bone marrow examinations) are most important for a successful management of disease.

What is the prognosis for a child with MDS?

Prognosis greatly depends on:

  • The specific diagnostic category of MDS, chromosomal abnormalities, and the number of blasts in the blood and bone marrow.
  • Whether the MDS is a primary disorder or secondary to another disease.
  • The availability of a suitable bone marrow transplantation donor.

As with any serious medical condition, prognosis and long-term survival can vary greatly from child to child. Prompt medical attention and aggressive therapy are important for the best prognosis. Continuous follow-up care is essential for the child diagnosed with MDS. Side effects of chemotherapy, as well as second malignancies, can occur in survivors of MDS. New methods are continually being discovered to improve treatment and to decrease side effects of the treatment for the disease.

What is the latest research on MDS?

At the moment, very little is known about the initiating events that lead to MDS, therefore limited specific therapies exist and a hematopoietic stem cell transplantation is currently the only curative option to treat the disease.

Dana-Farber/Children's Hospital Cancer Care's Pediatric Stem Cell Transplant Program is one of only eight institutions around the country investigating the use of umbilical cord transplantation for children with MDS.

Recently, Boston Children's Hospital received grant funding from the National Institute of Health (NIH) to establish the first nationwide patient registry and tissue repository for Pediatric MDS and bone marrow failure disorders.

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