Myelodysplastic syndromes (MDS) are bone marrow disorders. They stop the body from making enough healthy blood cells. MDS is common in older adults. More than 36 out of every 100,000 people age 80 or older have it. In children, it is rare. Only about 1 to 4 out of every million children are affected each year, and MDS makes up less than 5% of blood cancers diagnosed in childhood. Most cases in children are linked to a change in a gene. Some children are born with this gene change. Others develop it later, only in their bone marrow cells.
What are childhood myelodysplastic syndromes?
Myelodysplastic syndromes are a group of blood disorders that happen when the bone marrow (the part of our bodies responsible for making blood cells) doesn't work quite as it should. This can lead to low counts of different types of blood cells, which are vital for keeping our bodies healthy.
In adults, MDSs are more common and are often linked with getting older. However, when it comes to children, these disorders are quite rare. While more than 36 out of every 100,000 people who are 80 years or older might have sporadic MDS, only about 1 to 4 out of every million children are affected. In fact, MDSs account for less than 5% of blood-related cancers in kids
Risk factors for childhood MDS
Children with certain inherited genetic conditions or gene changes have a higher risk of developing a serious bone marrow disorder called myelodysplastic neoplasms (MDS). These underlying risk factors include hereditary or genetic conditions such as Fanconi anemia, telomere disorders, and Down syndrome, as well as specific gene mutations, such as GATA2 or RUNX1, that affect how the body produces blood cells.
Research indicates that approximately 22% of children with MDS carry one of these genetic variants, and many of these underlying genetic conditions are not initially suspected before starting treatment. Recognizing these inherited risk factors through genetic testing can help medical teams better understand the root cause of a child's condition and tailor their ongoing medical care accordingly.
What causes MDS in children?
In children, MDS are a rare group of blood disorders that function differently than they do in adults. While many cases had unknown causes. Recent research has shown that many children with MDS have an underlying inherited genetic predisposition. Specific genetic changes, such as those in the GATA2, SAMD9, SAMD9L, ETV6, and SRP72 genes, contribute to the development of these conditions. Identifying these genetic factors through testing is a vital part of modern care, as it helps doctors select the most appropriate therapies, such as stem cell transplantation, and allows for better monitoring of a child's long-term health.
Signs and symptoms of childhood MDS
Most symptoms of childhood MDS come from low blood cell counts, a condition called cytopenia. Depending on which blood cells are low, a child may have:
Pallor and fatigue, from a low red blood cell count, called anemia
Frequent or hard-to-treat infections, from a low white blood cell count
Easy bruising or bleeding, including nosebleeds or bleeding gums, from a low platelet count
The most common form of childhood MDS, called refractory cytopenia of childhood, is usually diagnosed between ages 7 and 8, and affects boys and girls equally. Some children have no symptoms at all. In these cases, routine blood tests often find the MDS, especially in children already being monitored for an inherited bone marrow condition.
Diagnosing childhood MDS can take some time. Its symptoms and blood test results can look similar to other bone marrow conditions. One example is severe aplastic anemia, where the bone marrow stops making enough of all blood cell types. Inherited bone marrow failure syndromes can also look similar. To tell these apart, doctors typically need a bone marrow biopsy. They also run blood tests that check for Fanconi anemia and telomere disorders.
Stages of childhood MDS
Doctors do not stage childhood MDS the way they stage solid tumors. Instead, they classify it by the percentage of blasts found in the bone marrow and blood. Blasts are immature blood cells that have not yet matured into working blood cells. Doctors also look at genetic features. The current classification groups childhood MDS into three types:
Childhood MDS with low blasts: fewer than 5% blasts in the bone marrow and fewer than 2% in the blood. This group is also called refractory cytopenia of childhood (RCC). It is the most common type in children.
Childhood MDS with increased blasts (sometimes still called MDS-EB in older records): a higher blast percentage than the low-blast group. It is still below the level used to diagnose leukemia.
MDS with defining genetic abnormalities: cases identified by a specific gene or chromosome change. Examples include a change in the SF3B1 gene, or the loss of both copies of the TP53 gene.
Treatment options for children with MDS
The main treatment for childhood MDS is a stem cell transplant using cells from a donor. For the most common childhood type, recent results show more than 90% of children survive after transplant.
Watchful waiting. Some children can be monitored closely instead of starting treatment right away. In these cases, doctors check blood counts on a regular schedule and start treatment only if the numbers get worse.
Stem cell transplant. An allogeneic hematopoietic stem cell transplant is the only treatment that can cure childhood MDS. It replaces a child's bone marrow with healthy blood-forming cells from a donor. Doctors generally recommend it once a child needs regular transfusions, has a low neutrophil count, or has higher-risk genetic features.
Outcomes depend on the type of MDS. For the low-blast form, a recent treatment registry reported that about 94% of children lived on, and about 88% were free of disease several years after transplant. For more advanced childhood MDS, one large study using a specific chemotherapy combination before transplant reported a 5-year survival of about 63%. Across studies, transplanting early, before the disease advances, tends to lead to better outcomes.
Immune-suppressing therapy. This option is sometimes used instead of an immediate transplant. It fits a smaller group of children: those with the low-blast form of MDS, The medicines used, calm an overactive immune response. About 75% of children respond within 6 months. But only around half stay free of relapse or further treatment several years later. Because of this, many of these children go on to need a transplant later.
Supportive care. While a child is waiting for or recovering from treatment, doctors may use blood transfusions to raise low blood counts. Antibiotics can treat or prevent infections.
Other therapies. Doctors are studying drug combinations, such as azacitidine and venetoclax, as a way to reduce disease activity before transplant. This use is still investigational in children. Lenalidomide is used in some adults with a specific subtype called isolated 5q deletion. This subtype is rare in children.
Side effects of MDS treatment
A stem cell transplant can have side effects during and shortly after the procedure. Children commonly have a weakened immune system and higher infection risk. Mouth sores, nausea, and fatigue are also common. An important risk is graft-versus-host disease. Longer-term effects can include slower growth and fertility problems. In some cases, there is a higher risk of developing another cancer later in life. How likely and severe these effects are depends on the intensity and duration of the treatment and the child's overall health.
If a child receives immune-suppressing therapy instead of a transplant, the medicines used can cause infusion reactions or flu-like symptoms during treatment.
Can childhood MDS be prevented?
There is currently no known way to prevent childhood MDS. Most cases are linked to a gene change present from birth, or to a bone marrow condition a child is born with. Neither of these can be prevented.
Prognosis and outlook for childhood MDS
While a childhood myelodysplastic neoplasm (MDS) diagnosis brings understandable uncertainty, advances in medical care continue to offer hope. Treatment outcomes depend on factors like the specific MDS subtype and underlying genetic features, but options like stem cell transplantation have achieved remarkable success, with survival rates reaching up to 94% for low-blast forms. Even for children with more advanced stages or complex underlying conditions, early diagnosis and tailored treatment plans give medical teams the best opportunity to clear the disease and support long-term recovery. Every child's situation is unique, and ongoing improvements in care are constantly expanding the possibilities for healing and a healthy future.
The treatment landscape is growing to offer more options to children with MDS
Researchers are still learning about the gene changes behind childhood MDS. That knowledge is already changing how doctors monitor and treat each child. The right approach depends on details unique to that child, such as blast count, genetics, and blood counts. A pediatric care team with experience in this disease is best placed to turn those details into a clear plan. Families do not need to track every detail alone. Staying in close contact with the care team and asking questions can help you advocate for yourself and your loved ones going through an MDS diagnosis.
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