Normally, bone marrow produces all of the blood cells your child’s body needs. Myelodysplastic syndrome (MDS) is a rare disease that keeps the body from properly producing blood cells and producing enough of them. MDS develops in the bone marrow — the soft, spongy center of the long bones that produces white blood cells to fight infection, red blood cells that carry oxygen, and platelets that help blood clot and stop bleeding. With this disease, blood cells lose their ability to mature and function properly.
The types of MDS in children, which are classified by the fraction of blasts (immature white blood cells) found in the bone marrow and blood, are:
Children and young adults with MDS are treated at Dana-Farber/Boston Children's Cancer and Blood Disorders Center through our Bone Marrow Failure and Myelodysplastic Syndrome Program, recognized
as one of the nation’s best pediatric treatment and research programs for bone
marrow failure, MDS, and related conditions. Our patients have access to
advanced diagnostic evaluations and treatments, including individually tailored stem cell
transplantation and ongoing clinical trials that are investigating new treatments.
Our program also has been designated a “Center of Excellence” from the MDS
Foundation – the only large pediatric center in the country awarded this
Myelodysplastic syndrome (MDS) is a rare disease of the blood, only occurring in four out of every 1 million children. While it develops in older patients (greater than 60 years old) most of the time, it can occur at any age. MDS develops in the bone marrow, the soft, spongy center of the long bones that produces the three major blood cells:
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 are carefully controlled to produce the correct number of each type of blood cell to keep the body healthy.
All blood cells (white blood cells, red blood cells and platelets) originate in the bone marrow from a single type of 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 by which a stem cells matures into a red or white cell or a platelet is disturbed.
MDS used to be called “smoldering leukemia” or “pre-leukemia,” but only about one-third of cases of MDS actually progress to childhood leukemia, a cancer of the blood and bone marrow.
There are two different major categories of myelodysplastic syndrome (MDS), divided up by cause:
Some pediatric patients with MDS have a chromosomal abnormality associated with the disease, most often involving chromosomes 7 and 8. However, these changes are not inherited from a parent. Instead, these abnormalities, which are thought to play a role in the development of MDS, arise on their own only within bone marrow cells and the blood cells they produce.
Sometimes, pediatric MDS can be associated with other rare conditions, such as inherited bone marrow failure disorders and other rare congenital disorders.
Physicians have identified several sub-types of MDS, based on how blood and marrow cells appear under the microscope. The hallmark of MDS is dysplasia, which describes the abnormal and bizarre-looking cells under the microscope. The cells used to be normal, precursor cells that produce white blood cells, red cells or platelets. When MDS develops, these cells have an abnormal appearance. Pediatric MDS is largely classified by the fraction of blasts (immature white blood cells) found in the marrow and blood. Importantly, the subtypes that have been identified in children are somewhat different from the ones that physicians are using for adults and older people.
The types of pediatric MDS are:
When the amount of blasts in a child’s bone marrow exceeds 30 percent, the condition is considered to be acute myelogenous leukemia (AML), which 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).
Because MDS is a disease of the bone marrow, initial symptoms are often related to abnormal bone marrow function. The bone marrow is responsible for producing the body's red blood cells, white blood cells and platelets. The most common presenting symptom is bleeding related to low platelet counts. However, in many children, MDS is discovered accidentally when a child is having a routine blood test for other reasons.
While your child may experience symptoms differently, the most common symptoms of MDS include:
The symptoms of MDS may resemble other blood disorders or medical problems, some of which are very common and easy to treat, others of which could be more serious. The symptoms listed above are common presentations of the disease, but do not include all possible symptoms.
In addition to a complete medical history and physical examination, myelodysplastic syndrome (MDS) can be accurately diagnosed only by a full evaluation of the blood and bone marrow. Your child’s physician may order some or all of the following tests:
MDS is often more difficult to diagnose than other bone marrow disorders and takes an experienced physician and pathologist who is highly skilled to look at bone marrow specimens of children to make the correct diagnosis. This is particularly true for children. Therefore, the diagnostic process may take time. 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 for MDS.
At Dana-Farber/Boston Children’s, children with myelodysplastic syndrome are treated through our Myelodysplastic Syndrome Specialty Program. We offer specialized diagnostic and treatment options, including direct referral to our pediatric Stem Cell Transplant Center, one of the nation’s oldest and most experienced pediatric stem cell transplant programs.
Your child’s physician will determine a specific course of treatment based on several factors, including:
Treatment of MDS usually begins with supportive care, which helps control and treat the consequences of the disease, but not eradicate it.
In almost all instances, MDS in children can be cured only 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—either a relative (usually a sibling) or an unrelated individual—are given through an infusion to the patient to restore the bone marrow that was previously destroyed by the chemotherapy and/or radiation therapy.
Coping & support
There are a number of patient and family support services available at Dana-Farber/Boston Children's to help you and your family through this difficult time.
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.
Your child's prognosis greatly depends on:
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 to determine response to treatment, detect recurrent disease and manage late effects of treatment is essential for the child diagnosed with MDS. Side effects of chemotherapy, as well as second malignancies, can occur in survivors of MDS. Frequent examinations by a specialist and laboratory tests (including repeat bone marrow examinations) are most important for a successful management of disease.
In about one-third of patients, MDS progresses to acute myelogenous leukemia, usually within months to a few years.
Without a stem cell transplant, the prognosis for MDS is poor. Continuous follow-up care to determine response to treatment, detect recurrent disease and manage late effects of treatment is essential for children diagnosed with MDS. Side effects of chemotherapy, as well as second malignancies, can occur in MDS survivors.
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 transplant is currently the only treatment that can cure the disease.
Dana-Farber/Boston Children's received grant funding from the National Institutes of Health (NIH) to establish the first nationwide Pediatric MDS and BMF Registry. Over the last three years we have collected information on over 150 patients with MDS and BMF disorders. For the first time this will allow researchers at Dana-Farber/Boston Children's and collaborating institutions to collect clinical information and tissue samples to help us better understand this condition. Along with other centers we have recently identified genetic causes for several families with “familial MDS.” Ultimately, we hope to identify new therapies for this condition, which is currently cured only with a bone marrow transplant.
To learn more about participating in the registry, please contact our research nurse, Grace Yoon, at 888-5-pediMDS, or email us at firstname.lastname@example.org. For more information, visit our website: www.PediMDS.org.
For many children with rare or hard-to-treat conditions, clinical trials provide new options.
Leslie Lehmann, MD, explains stem cell transplants. Dana-Farber/Boston Children's has one of the most experienced pediatric stem cell transplant programs in the United States.