Pediatric Myelodysplastic Syndromes (MDS): UnderstandingDiagnosis, Impact, and Advances in Care - A ComprehensiveOverview
- sunshine4cancerkid
- Aug 6
- 23 min read
Sarayu Lanka, Shanaya Roy, Sejal Sablok, Katrice Quinto, Mathumitha Vaithiyanathan
Words: 6594
Sarayu Lanka | Diagnoses & Conclusion
Howard High School
Shanaya Roy | Discussion & Impacts
Edison High School
Sejal Sablok | Introduction & Treatment
University of California Berkeley
Katrice Quinto | Statistics
John Fraser Secondary School
Mathumitha Vaithiyanathan | Abstract & Medical Professions
Marriotts Ridge High School
Table Of Contents
Table Of Contents.................................................................................................................2
Abstract..................................................................................................................................... 5
Introduction.............................................................................................................................. 6
Discussion..................................................................................................................................8
Why Focus on Pediatric MDS?............................................................................................8
How to Diagnose Patients...................................................................................................... 10
Medical Professions................................................................................................................13
Pediatric Hematologist....................................................................................................... 13
Pathologist..........................................................................................................................13
Bone marrow transplant specialist..................................................................................... 14
Pediatric oncology nurse.................................................................................................... 14
Child life specialist.............................................................................................................14
Treatments...............................................................................................................................16
Supportive Care..................................................................................................................16
Transfusion Therapy.....................................................................................................16
Growth Factor Support.................................................................................................17
Infection Management..................................................................................................17
Immunosuppressive Therapy............................................................................................. 18
Allogeneic Hematopoietic Stem Cell Transplantation (HSCT)......................................... 18
Donor Options.............................................................................................................. 19
Preparation Before Transplant......................................................................................19
Engraftment and Recovery...........................................................................................19
Possible Complications................................................................................................ 20
Outcomes......................................................................................................................20
Statistics...................................................................................................................................21
Incidence and Frequency....................................................................................................21
Age Distribution in Pediatric Myelodysplastic Syndromes (MDS)...................................21
Infants...........................................................................................................................21
Early childhood............................................................................................................ 22
Middle childhood......................................................................................................... 22
Pre-adolescence to early adolescence...........................................................................22
Adolescents.................................................................................................................. 22
Age and Demographic Additional Factors.........................................................................23
Gender Occurrence and Responses.................................................................................... 24
Risk and Predisposing Conditions......................................................................................25
Clinical Presentation and Diagnosis...................................................................................25
Subtypes of Pediatric MDS................................................................................................ 26
Prognosis and Outcomes.................................................................................................... 26
Risks and Complications of Pediatric Myelodysplastic Syndromes..................................27
Impacts.................................................................................................................................... 29
Introduction to the Challenges of Pediatric MDS.............................................................. 29
Physical Impacts ................................................................................................................29
Anemia......................................................................................................................... 29
Bleeding/Thrombocytopenia........................................................................................29
Infections/Leukopenia..................................................................................................29
Acute Myeloid Leukemia.............................................................................................30
Mental Impacts ..................................................................................................................30
Daily Life Change ....................................................................................................... 30
Emotional Support and Counseling .............................................................................31
Conclusion...............................................................................................................................32
Works Cited (MLA 9th Gen).................................................................................................33
Abstract
Pediatric Myelodysplastic Syndrome (MDS) is a rare blood disorder that affects
children. It can be characterized by abnormal blood cell development in the bone marrow.
The bone marrow produces blood cells that are abnormal in appearance and can lead to the
risk of anemia or low red blood cells, neutropenia or low white blood cells, thrombocytopenia
or low platelets, and acute myeloid leukemia (Myelodysplastic Syndrome in Children).
Pediatric Myelodysplastic Syndrome differs significantly from the adult form of MDS as it
involves genetically inherited mutations such as GATA2 or SAMD9/SAMD9L (Kennedy and
Shimamura).
This paper provides an in-depth breakdown of the diagnosis, medical professions,
treatments, statistics, and impacts involved in Pediatric Myelodysplastic Syndrome. It
highlights key findings such as how 70% of the pediatric cases show abnormal karyotypes,
with monosomy 7 being the most common mutation. While supportive therapies can help
manage symptoms, allogeneic hematopoietic stem cell transplantation (HSCT) is the only
curative treatment as it offers a 70-80% five-year survival rate in the low-risk cases. Early
diagnosis is also essential in order to improve the long-term outcomes in affected children.
Pediatric Myelodysplastic Syndrome is a sporadic and complex disorder that requires
a lot of attention. The continuation of research is essential to update and refine the most
recent diagnostic tools and develop targeted therapies that can enhance the long-term
prognosis and quality of life for affected children with MDS (Rau et al.).
Introduction
Myelodysplastic Syndromes, or MDS, are a group of rare blood disorders which
affects the production of blood cells in the bone marrow. In children with MDS, the bone
marrow does not produce enough healthy blood cells, leading to insufficient production of
red blood cells, white blood cells, and platelets.
In children, MDS is most often associated with inherited syndromes or genetic
disorders, such as Down syndrome, Fanconi anemia, congenital neutropenia, and other
syndromes affecting bone marrow cellularity. MDS in adults is often secondary to prior
cancer treatment, aging, or some other environmental factors. In children, the disease course
is often more aggressive, resulting in a need for earlier intervention, often requiring a stem
cell transplant. In adults, the disease can sometimes be managed with medication or
supportive care, without immediate treatment. It can be hard to diagnose MDS in children
because it shares many symptoms with other blood disorders like aplastic anemia. Pediatric
MDS is now treated as a different disease than adult MDS.
The World Health Organization now is more pediatric specific which helps accurately
diagnose and treat children. Refractory cytopenia of childhood, which is long-term low blood
count and abnormal bone marrow function, even when the number of immature cells remains
low. This specification has helped healthcare providers diagnose this condition and choose
the accurate treatment.
Children with MDS show symptoms like infections, fatigue, easy bruising, or
bleeding. Since MDS causes a drop in healthy blood cells, the symptoms often mimic those
of other bone marrow disorders. To make an accurate diagnosis and eliminate other
possibilities, doctors use blood tests, bone marrow analysis, and genetic testing.
This paper will cover how pediatric MDS is diagnosed, what symptoms it causes, how
it is treated, which healthcare professionals are involved, and how it affects children’s lives.
Discussion
Why Focus on Pediatric MDS?
● Myelodysplastic Syndromes, specifically in children who are under the age of 18, are very infrequent. Only about 1 to 4 cases are disclosed per million children each year. Because this disease is so rare in kids, most of what we know about MDS and how to treat it comes from studies on adults, but pediatric Myelodysplastic Syndromes are very distinct from Myelodysplastic Syndromes that occur in adults (Inam et al., 2024). There is a big opportunity to learn more about how pediatric MDS develops and affects kids, especially when it comes to immune system involvement and genetic
changes that may be unique to children.
● A recent study analyzed 30 advanced cases of the disease and found that 69% of the patients had abnormal karyotypes, with monosomy 7 being the most common genetic mutation. This highlights the importance of identifying and understanding genetic changes among patients to understand how this disease develops and impacts kids (Liu et al.).
● Since more targeted treatments are being used in pediatric MDS, it is essential to understand whether decreasing how severe the disease is provides more benefits than risks, despite possible side effects (Wachter et al.).
● The interplay between the child’s immune system and graft-versus-leukemia (GVL) effect in MDS is unclear, making it a valuable area for further study. These treatments are designed to support the immune system in fighting cancer more efficiently, but they can also carry the risk of the immune system fighting against healthy parts of the
body–something that remains a big concern (Wachter et al.).
How to Diagnose Patients
Pediatric Myelodysplastic Syndromes, MDS, is a bone marrow disease which affects
blasts, or bone marrow cells, causing them to function abnormally and turn into defective
blood cells(“Myelodysplastic Syndromes”). This can include red blood cells which carry vital
materials to all tissues of the body so cells can continue to function, white blood cells that
fight infection as part of the immune system, and platelets that allow the blood to clot in
promotion of healing(“Myelodysplastic Syndromes”).
To identify this in a patient, there are a variety of signs that can be caught early on in
order to have a treatment be as effective as possible. A primary condition that MDS would
cause is Anemia, which is a problem in which too few red blood cells or hemoglobin, the
main protein in red blood cells, are present in the body(“Diagnosis of Myelodysplastic
Syndrome (MDS) | Memorial Sloan Kettering Cancer Center”). Due to the condition, organs
and the several biological systems will be exposed to problems because of insufficient
resources such as Oxygen. As cells and systems will be inhibited from working effectively, it
can cause symptoms such as fatigue, an inability to exercise, shortness of breath, and
headaches/migraines often(WebMD Editorial Contributors). Additionally, infections
occurring regularly could be another sign of MDS. When white blood cells are not produced
enough, it can result in the immune system becoming significantly weaker, so susceptibility to
germs and viruses increase. A sign of infections is especially common in children. Easily
bruising and excessive bleeding can also be a symptom of Pediatric Myelodysplastic
Syndromes. When platelets do not divide properly and mutations or abnormalities occur,
blood clotting will not effectively occur, potentially causing a patient to bleed more and
bruise easily(“Myelodysplastic Syndromes”).
Diagnosing a patient definitively includes the administration and analysis of medical
tests. One set would include blood tests. Medical professionals may order blood tests in order
to check for a count of the number of each blood cell type to check for any abnormalities in
size and number which would occur due to MDS(“Diagnosis of Myelodysplastic Syndrome
(MDS) | Memorial Sloan Kettering Cancer Center”). If the results do turn out to be atypical
and not within the regular range in numbers, then physicians may order further tests,
including but not limited to a bone marrow biopsy. A bone marrow biopsy is a medical
examination done to analyze the bone marrow in a particular patient. It is performed by
inserting a needle into the bone, extracting small amounts of bone marrow from it, and
assessing it and dissecting it for any potential issues(“Diagnosis of Myelodysplastic
Syndrome (MDS) | Memorial Sloan Kettering Cancer Center”). If the individual is diagnosed
with MDS, it would mean that their bone marrow displayed results known as Morphologic
Dysplasia, which refers to irregular growth and development of cells in a tissue. Specifically,
patients with MDS would exhibit cell sizes and shapes that are not normal to the bone
marrow cell kind of type, or blasts(“Diagnosis of Myelodysplastic Syndrome (MDS) |
Memorial Sloan Kettering Cancer Center”).
Within bone marrow tests, there are four internal studies done after a sample is
acquired from the patient. This includes Cytogenetic studies, Histochemistry studies, Flow
Cytometry, and Molecular Genetic Studies. Cytogenetic testing is used to provide information
about a cell’s chromosomes, or DNA, which can be used as evidence of different genetic
diseases or cancer, such as MDS. When cells become cancerous, changes can occur to the
number of chromosomes in the DNA, or the structure of chromosomes as well. As different
types are analyzed to see which one fits, it can also be understood whether a patient has MDS
or not(McNulty). Furthermore, histochemistry is utilized by staining tissue based on chemical
components to identify essential information about the structure of tissue and cells, the
activity of biochemical processes, and the molecular components of samples. Changes in
tissue through development and disease can be found and marked, which will help to
diagnose diseases including MDS(“What Is Histochemistry?”). In addition to that, flow
cytometry is a laser-based exam that uses technologies to find physical and chemical changes
in cells or particles(Cleveland clinic). Finally, molecular genetic studies are used to further
check the DNA of cells, and would be used for bone marrow cells in MDS(“A Detailed Look
at the Science of Molecular Genetics”). These, as a combination, are examinations used to
analyze whether a patient might have Pediatric Myelodysplastic Syndromes, and can help
make a diagnosis more clear and certain.
Medical Professions
Pediatric Myelodysplastic syndrome is a rare blood disease in children, characterized
by the production of a low number of healthy blood cells in the bone marrow. The treatment
for MDS requires a multidisciplinary team of health professionals, including a pediatric
hematologist, pathologist, bone marrow transplant specialist, pediatric oncology nurses, child
life specialists, and other medically trained professionals (Pediatric Cancer Care Team).
Pediatric hematologist
A pediatric hematologist plays a role in diagnosing and treating blood disorders and
cancer in children. They do a variety of activities such as conducting physical exams,
interpreting laboratory tests, developing a treatment plan, prescribing medications, and
performing procedures such as bone marrow transfusions. Pediatric hematologists usually
obtain a four-year bachelor’s degree, attend medical school for four years, and complete a
three-year specialized residency to become a board-certified internal medicine doctor in
hematology (Gustafson). Based on their location and experience, a pediatric hematologist
makes between $245,000 and $394,000 per year (Pediatric Oncologist Salaries).
Pathologist
A pathologist helps in the diagnosis of diseases like MDS by examining tissue
samples and other specimens. Some pathologists also research to advance the treatment of
diseases. A pathologist usually requires a bachelor's degree in a science-related field, four
years of medical school, specialized pathology residency that typically lasts four years, and
certification and licensing to become board-certified by passing multiple exams. The salary
range for pathologists depends on their experience. An entry-level pathologist makes between
$200,00 and $250,000 annually. An experienced pathologist makes between $300,000 and $350,000 annually, and a top-earning pathologist may earn upwards of $400,000 annually
(UAG).
Bone marrow transplant specialist
A bone marrow transplant specialist is an expert in bone marrow and stem cell
transplantation. They assess if the patient is eligible for transplant procedures, perform as
well as assist with bone marrow and stem cell transplants, support and monitor patients
post-transplant for relapse or other issues, and also participate in research. Bone marrow
transplant specialist has to undergo a four-year medical degree program, three to four years of
residency in internal medicine or pediatrics, two to three years of fellowship training in
hematology-oncology, followed by specialized fellowship in bone marrow transplantation
along with a board certification in hematology and medical oncology (Torres). A bone
marrow transplant specialist makes between $280,000 at the 25th percentile and $400,000 for
top earners (Hematologist Bone Marrow Transplant Physician Salary).
Pediatric oncology nurse
A pediatric oncology nurse cares for children with cancer, such as MDS. They help
administer chemotherapy and medications, among other treatments, observe patients for side
effects or symptoms, educate the parents and child, and provide emotional support for the
child. A pediatric oncology nurse tends to have an associate’s degree in nursing or a bachelor
of science in nursing, as well as a state-issued license. The median salary for a pediatric
oncology nurse is $75,330 annually (How Can I Become a Pediatric Oncology Nurse).
Child life specialist
A child life specialist helps young patients cope with the challenges faced in
hospitalization, illness, and disability. They use creative approaches such as utilizing play, art,
and other engaging activities to ease the stress and anxiety of children during procedures and
treatments. A child life specialist requires a bachelor's degree in any field of study, a master's
degree in child life, a certified child life specialist credential, and additional training through
a clinical internship. A certified child life specialist earns between $49,000 and $68,736
annually (Bouchrika).
Overall, both hematologists and pathologists play crucial roles in the treatment of
MDS. But the multidisciplinary team of health professionals is important to ensure that the
child's hospitalization goes smoothly from both an emotional and physical perspective.
Treatments
The treatment of pediatric myelodysplastic syndromes (MDS) is primarily determined
by the disease subtype, the extent and duration of cytopenias, bone marrow cellularity,
cytogenetic and molecular abnormalities, and the risk of progression to acute myeloid
leukemia (AML). Since genetic findings and symptoms differ for each patient, treatment
must be personalized to reflect the unique characteristics of each case. While certain patients
may experience temporary benefit from supportive or immunosuppressive therapy, allogeneic
hematopoietic stem cell transplantation (HSCT) remains the only curative option currently
available.
Supportive Care
Supportive care is essential for managing pediatric MDS, especially for patients who
are not receiving curative treatments right away. It does not modify how the disease develops
but it helps stabilize children with cytopenias (a low number of blood cells in the body) and
prevent complications in children who are waiting for a hematopoietic stem cell
transplantation.
Transfusion Therapy
RBC blood transfusion is needed for cases where the anemia is symptomatic, meaning
increased fatigue and reduced activity levels. Platelet transfusions are given when counts fall
below a safe threshold, i.e. below 10 × 109/L. There are some risks included, if there are
multiple transfusions, there can be a secondary iron overload which may damage liver, heart,
and endocrine organs. To monitor this, serum ferritin levels are checked regularly. If levels
remain elevated over time, especially in patients who are transfusion-dependent, iron
chelation therapy is started to prevent further complications. The most commonly used chelating agent in pediatric patients is deferasirox, which is taken orally and helps the body
excrete excess iron.
Growth Factor Support
Growth factors are sometimes used in children with myelodysplastic syndromes to
improve blood cell production when the bone marrow is not functioning well. One commonly
used medication is granulocyte colony-stimulating factor, or G-CSF, which stimulates the
production of neutrophils. Neutrophils are a type of white blood cell that protects the body
from bacterial and fungal infections, and when their levels drop significantly, a condition
called neutropenia, the risk of infection becomes much higher. In children with very low
neutrophil counts and a history of frequent or severe infections, G-CSF may be considered.
Its use is cautious, since stimulating the marrow may encourage the growth of abnormal cells
in some MDS subtypes.
Infection Management
Infection is one of the biggest risks in pediatric MDS, mainly because many patients
have neutropenia, meaning their neutrophil count is low. Neutrophils are important white
blood cells that help fight off bacteria and fungi, so when they are reduced, even mild
infections can turn serious quickly. If a child with neutropenia develops a fever, antibiotics
are usually started right away, even before the specific infection is found, because waiting can
be dangerous. Some patients, especially those getting ready for stem cell transplant or
receiving drugs that suppress the immune system, might also be given antifungal or antiviral
medications ahead of time to lower their risk of infection. Since these infections can become
life-threatening, regular monitoring and fast treatment are a big part of managing the disease
safely.
Immunosuppressive Therapy
Immunosuppressive therapy can be used in some children with myelodysplastic
syndromes, but only in certain cases. It is mostly considered for patients who have refractory
cytopenia of childhood, which is a type of MDS where the bone marrow has fewer cells than
normal and the child has low blood counts, but not many abnormal or immature cells. These
patients usually have a low number of red cells, white cells, or platelets, but their condition is
more stable compared to more advanced forms of MDS. Immunosuppressive therapy is
mainly used when a stem cell transplant cannot be done right away, either because a donor is
not available or because the patient is not ready for transplant yet. The treatment usually
involves two drugs: antithymocyte globulin, also called ATG, and cyclosporine. ATG is a
medicine that reduces the number of immune cells that might be attacking the bone marrow.
Cyclosporine keeps the immune system from becoming too active, which can help the bone
marrow start making blood cells again. In some children, this treatment can improve red cell
and platelet counts and reduce how often they need transfusions. But it does not work for
everyone, and even when it helps, the effect may not last. Many children still end up needing
a stem cell transplant later on. This kind of therapy is not used if the child has high-risk
genetic changes like monosomy 7, because those cases usually do not respond well and have
a higher risk of progressing to leukemia. That’s why doctors only use immunosuppressive
therapy in selected patients where it has a chance of helping.
Allogeneic Hematopoietic Stem Cell Transplantation (HSCT)
Stem cell transplant is the only treatment that can fully cure pediatric MDS. It
replaces the abnormal bone marrow with healthy stem cells from a donor so that the body can
start making normal blood cells again. Most kids with advanced MDS or genetic
abnormalities like monosomy 7 will eventually need a transplant. It can also be used in children with refractory cytopenia who are transfusion dependent or not improving with other
treatments. The earlier the transplant is done, the better the chances of success, especially
before the disease turns into leukemia.
Donor Options
The best outcome usually comes from a fully matched sibling donor. If no sibling is a
match, other options include matched unrelated donors, haploidentical (half-matched) family
members, or umbilical cord blood. In pediatric cases, bone marrow is often preferred over
peripheral blood stem cells because it lowers the risk of complications like graft-versus-host
disease.
Preparation Before Transplant
Before the transplant, the child receives a treatment called conditioning. This uses
chemotherapy, and sometimes radiation, to destroy the diseased marrow and prepare the body
for the new cells. There are different types of conditioning. Myeloablative conditioning uses
high doses of chemotherapy and is more intense, while reduced-intensity conditioning is
gentler and used in kids who might not tolerate the stronger version. The choice depends on
things like age, general health, and how aggressive the disease is.
Engraftment and Recovery
After the new stem cells are given, they travel to the bone marrow and start making
new blood cells. This process is called engraftment, and it usually takes two to four weeks.
During this time, the child is at high risk for infections, bleeding, and other side effects, so
they need to be monitored closely. Transfusions, antibiotics, and other supportive care are
often needed while the immune system recovers.
Possible Complications
One of the main risks after transplant is graft-versus-host disease (GVHD). This
happens when the new immune cells from the donor see the child’s body as foreign and start
attacking it. GVHD can be mild or severe and may affect the skin, gut, liver, or other organs.
Doctors usually give immunosuppressive medicine to lower the risk. Other possible side
effects include infections, organ damage from chemo, or delayed recovery of blood counts.
Still, despite the risks, HSCT gives the best chance at a cure for most children with MDS.
Outcomes
The outcome after transplant depends on factors like the type of MDS, the timing of
the transplant, and the donor match. Survival rates are highest when the disease is caught
early and a good donor match is available. In some cases, the survival rate can be over 80
percent, especially in kids who get transplants for refractory cytopenia before the disease
becomes more aggressive. The chances are lower if transplant happens after the disease turns
into leukemia, but it can still be life-saving.
Statistics
Incidence and Frequency
Pediatric myelodysplastic syndromes (MDS) are rare blood disorders in children,
accounting for less than 5% of all childhood hematologic cancers. The estimated worldwide
incidence is roughly 1 to 4 cases per million children per year. In the United States, this
translates to about 75 to 150 newly diagnosed pediatric cases each year. In Europe, the
number is around 30 to 60 cases annually. In Canada, based on an incidence rate of
approximately 1 to 2 cases per million children per year and a population of around 7.5
million children under 18 years old, there are typically an estimated 8 to 15 new pediatric
MDS cases each year. Despite being rare, awareness and early diagnosis have improved due
to advances in diagnostic techniques and broader awareness among pediatric oncologists.
Age Distribution in Pediatric Myelodysplastic Syndromes (MDS)
Infants (<1 year):
Pediatric MDS is relatively uncommon in infants, accounting for about 10% to 15%
of cases. When it occurs in this age group, it often indicates a possible underlying genetic or
congenital predisposition, such as inherited bone marrow failure syndromes. The disease in
this youngest cohort can be challenging to diagnose due to overlapping symptoms with other
neonatal conditions. Early recognition is critical as it may guide genetic counseling and
treatment decisions.
Early childhood (1–4 years):
This age group represents one of the highest proportions of pediatric MDS diagnoses,
approximately 25% to 30%. Many children diagnosed in this period present with refractory
cytopenia of childhood (RCC), a lower-risk form of MDS. However, some may have more aggressive subtypes. The higher incidence here underscores the importance of monitoring
young children who present with persistent unexplained blood abnormalities. Outcomes can
be better when detected early, with hematopoietic stem cell transplantation (HSCT) offering
curative potential.
Middle childhood (5–9 years):
Similar to early childhood, about 25% to 30% of pediatric MDS cases are diagnosed
in this group. Clinical presentation is often with symptoms related to anemia, low white cells,
or platelets, and the spectrum of disease can range from low to high risk. Because children in
this age group are often more robust, they may tolerate aggressive treatments better, which
can influence survival positively.
Pre-adolescence to early adolescence (10–14 years):
This group accounts for approximately 15% to 20% of new pediatric MDS cases.
Diagnosis tends to be less frequent here, but the risk of harboring higher-grade or
transformation-prone variants increases. Cytogenetic abnormalities may be more common,
which can worsen prognosis and emphasize the need for close monitoring and timely
therapeutic intervention.
Adolescents (15–18 years):
The least frequently affected group, adolescents constitute about 10% to 15% of
pediatric MDS cases. In this transitional age, the disease biology may start to resemble that of
adult MDS, which can carry different prognostic factors and therapeutic challenges.
Treatment decisions may be more complex due to factors like psychosocial considerations
and eligibility for adult protocols.
Age and Demographic Additional Factors
Myelodysplastic syndromes (MDS) in children can manifest at any age, but the
disorder most commonly presents during early to middle childhood. The median age at
diagnosis is approximately 7 years, reflecting that the majority of cases are detected in
younger children. Around 50% to 60% of pediatric MDS cases occur before the age of 10.
This age distribution highlights the importance of awareness among pediatricians and
oncologists for early detection, particularly in this vulnerable age group.
In Canada specifically, epidemiologic data align with global trends, with most
pediatric MDS cases diagnosed before age 10. Given the estimated annual incidence rate of
about 1 to 2 cases per million children, and a pediatric population (under 18 years) of roughly
7.5 million, Canada observes approximately 8 to 15 new pediatric MDS diagnoses each year.
These cases predominantly reflect the typical age distribution seen worldwide, emphasizing
that early childhood remains the most critical period for diagnosis and intervention.
Table 1 - Age Distribution Table
Gender Occurrence and Responses
There is a slight male predominance in pediatric MDS, with a male-to-female ratio of
approximately 1.2:1. This gender difference, though modest, is consistent across multiple
geographic regions including the United States, Europe, and Canada.
Table 2: Comparison of Incidence, Age Distribution, and Risk Factors in Male vs. Female
Pediatric Myelodysplastic Syndromes
Table 3:MDS Incidence by Gender (% of cases)
------------------------------------
Male | ████████████████████ 64%
Female | ██████████████ 36%
------------------------------------
Total patients = 4580
Risk and Predisposing Conditions
In contrast to adults, a significant proportion (about 20–30%) of pediatric MDS cases
are associated with underlying inherited bone marrow failure syndromes or genetic disorders
(for example: Down syndrome, Fanconi anemia, and GATA2 deficiency). Additionally, about
10–15% of pediatric MDS is considered “secondary” and arises after prior exposure to
chemotherapy or radiation therapy for other conditions.
Clinical Presentation and Diagnosis
Children with Pediatric Myelodysplastic Syndromes (MDS) usually present with
symptoms caused by low blood cell counts. Approximately anemia affects over 80% of
pediatric MDS patients, manifesting as fatigue and pallor. About 50%–60% experience
neutropenia, leading to frequent or recurrent infections, while thrombocytopenia (low platelet
count), causing easy bruising or bleeding, is noted in roughly 40%–50% of cases. Because
these signs can be subtle or overlap with other common childhood conditions, diagnosis often
requires careful and repeated evaluations. Confirmation is achieved through blood tests
showing cytopenias and a bone marrow examination, which includes morphological
assessment, plus specialized genetic and molecular analyses. Chromosomal abnormalities are
detected in approximately 40%–50% of pediatric MDS cases, with mutations that
significantly influence prognosis and guide treatment decisions.
Subtypes of Pediatric MDS
Refractory Cytopenia of Childhood (RCC):
Accounts for approximately 50% to 75% of pediatric MDS cases. This is a
lower-risk subtype characterized by slower progression.
Refractory Anemia with Excess Blasts (RAEB) and RAEB in Transformation
(RAEB-T):
Represent 25% to 50% of cases and carry a higher risk due to increased
numbers of abnormal blasts. These subtypes have a greater chance of evolving into
acute myeloid leukemia (AML) and require closer monitoring and more aggressive
treatment.
Prognosis and Outcomes
Pediatric MDS is a serious, potentially life-threatening condition. However, outcomes
have improved with the use of hematopoietic stem cell transplantation (HSCT), which is
currently the only curative therapy.
Table 4: Subtype and Survival
Subtype 5-year Survival with HSCT
Without HSCT, survival rates are much lower, generally in the 20–30% range over 5 years.
Risks and Complications of Pediatric Myelodysplastic Syndromes
Pediatric MDS carries significant risks and complications primarily related to
ineffective blood cell production and progression of disease:
Progression to Acute Myeloid Leukemia (AML): Approximately 20% to 40% of
pediatric MDS patients, especially those with RAEB or RAEB-T subtypes, experience
progression to AML within five years if untreated. This transformation represents a critical
worsening of prognosis.
Infections: Due to neutropenia, children are at an increased risk of severe bacterial,
fungal, and viral infections, which can lead to hospitalization and life-threatening
complications. About 50% to 60% of patients experience clinically significant infections.
Bleeding and Hemorrhage: Thrombocytopenia predisposes patients to easy bruising,
spontaneous bleeding, and hemorrhagic events. Around 40% to 50% of pediatric MDS
patients may exhibit bleeding complications, posing acute risks, especially with severe
platelet reductions.
Anemia-Related Symptoms: With anemia occurring in over 80% of patients,
symptoms such as fatigue, pallor, shortness of breath, and decreased exercise tolerance
substantially impair quality of life.
Genetic Predisposition and Associated Syndromes: Roughly 20% to 30% of pediatric
MDS cases are linked to underlying inherited bone marrow failure syndromes or germline
mutations (e.g., GATA2 deficiency, Fanconi anemia), which may cause additional organ
system complications and require specialized management.
Treatment-Related Risks: Hematopoietic stem cell transplantation (HSCT), the only
curative treatment, carries risks including graft-versus-host disease (GVHD), infections, and
treatment-related morbidity and mortality. Some patients may be ineligible or resistant to
treatment.
Diagnostic Challenges: Overlap with other bone marrow failure syndromes and
aplastic anemia complicates diagnosis; delayed recognition may worsen outcomes.
Impacts
Introduction to the Challenges of Pediatric MDS
A child diagnosed with pediatric MDS may be prone to experiencing many negative
side effects throughout their treatment. Common symptoms include anemia,
thrombocytopenia, and leukopenia, and acute myeloid leukemia. In addition to physical
symptoms, MDS can also take a toll on a child’s mental health, leading to challenges such as
anxiety, depression, and emotional stress.
Physical Impacts
Anemia
When the body doesn’t make enough red blood cells or they don’t develop properly,
hemoglobin levels drop, which means less oxygen gets carried throughout the body. When
this happens, kids might seem unusually tired or pale, and they might start breathing faster as
their body tries to make up for the lack of oxygen being delivered (“Myelodysplastic
Syndrome in Children”).
Bleeding/Thrombocytopenia
Pediatric MDS can lead to low platelet count, which makes it easier for patients to
bruise or bleed longer than usual. This can include frequent nosebleeds or bleeding from the
gums (“Myelodysplastic Syndrome in Children”).
Infections/Leukopenia
Children with MDS don’t often have enough healthy white blood cells to fight against
infections. In some cases, they may have extremely low neutrophil levels–a condition called
neutropenia–which occurs either because the cells in the bone marrow can’t fully mature or
because irregular blast cells overcrowd them. Alternatively, the white blood cell count in the
body might be abnormally high in some cases, but they still do not function appropriately to
resist infection. Due to this, children may experience frequent or severe infections with fevers
(“Myelodysplastic Syndrome in Children”).
Acute Myeloid Leukemia
In pediatric MDS, the bone marrow often produces too many cells, but many of these
cells don’t develop properly. This unusual growth can sometimes lead to a more severe
condition called acute myeloid leukemia, though the number of immature cells usually stays
below 20% (“Childhood Myelodysplastic Neoplasms Treatment (PDQ®)–Health
Professional Version”). Around one-third of pediatric MDS cases eventually evolve into acute
myeloid leukemia, typically over time, ranging from a few months to years. Without a stem
cell transplant, the long-term outcome of the disease is generally unfavorable. Regular
follow-up care is crucial, not just to track how the child responds to the treatment, but also to
recognize possible relapse or long-term complications early on (“Myelodysplastic Syndrome
in Children”).
Mental Impacts
Daily Life Change
As treatment progresses, families often find their schedules overwhelmed with
medical appointments, which can lead to children missing school. This disruption may cause
students to fall behind academically, while their involvement in extracurricular activities can
frequently be delayed or temporarily paused. Dealing with MDS can be emotionally difficult
for anyone, and every illness has its own set of challenges. Mental health challenges can be
especially difficult to deal with because they often come with stigma (Reed).
Emotional Support and Counseling
Coping with MDS can cause patients to develop mental health challenges such as
depression, anxiety, and excessive worry. However, no one has to face it alone; support from
friends, family, religious communities, support groups, or mental health professionals can
make a significant difference (“Living as a Myelodysplastic Syndrome (MDS) Survivor”).
Conclusion
All in all, Pediatric Myelodysplastic Syndromes is a significant disease that impacts people
globally. It occurs when blood cells do not divide regularly causing abnormalities in their
function and performance. It affects red and white blood cells, as well as platelet division and
production. When these cells are impacted, it can also significantly affect the body working
together as a whole. Diagnosis is completed of potential patients through a variety of blood
tests including bone marrow biopsies and examinations within that. Several types of medical
professionals assist with diagnosis, and then treatment later on, including but not limited to
pediatric oncologists. Treatments include supportive care, transfusion therapy, and more. This
disease can affect a multitude of people and has made its mark in many communities. It is
important to have awareness in order to understand how society can move towards an
inclusive world for those who require support and care.
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