Survival outcomes following treatment delays among patients with early-stage female cancers: a nationwide study
Study Reveals Why Children With Down Syndrome Have Higher Risk Of Leukemia
People with Down syndrome face a higher risk of developing leukemia. Now researchers from the University of Copenhagen and Stanford University explain why, by identifying specific changes in blood cells of people with Down syndrome.
The study "Single-cell multi-omics map of human fetal blood in Down syndrome" has been published in Nature.
In the world, one out of 700 children is born with Down syndrome. A syndrome, where the child has an extra copy of chromosome 21, resulting in 47 chromosomes instead of 46. This typically results in characteristic physical features and some level of learning disability.
But newborns with Downs syndrome also tend to have an elevated number of red blood cells, and as they grow older, they face a 150-fold higher risk of developing leukemia compared to those without the condition.
"Our study revealed that the additional chromosome 21 alters how DNA is packed inside the cells. This difference affects how certain genes are regulated and can contribute to the development of leukemia," explains Rebecca Moller, one of the researchers from University of Copenhagen behind the new study.
To more precisely understand the impact of the extra chromosome 21, the researchers sequenced the genes of over 1.1 million cells from fetuses with and without Down syndrome.
"Interestingly, the dysregulations are not uniform and vary depending on the cell type and its environment. We found, for example, that blood stem cells in individuals with Down syndrome show dysregulations of genes involved in making red blood cells, explaining the symptoms in newborns," says Professor Ana Cvejic, the senior lead scientist from University of Copenhagen.
The researchers also identified another crucial difference in the blood stem cells of people with Down syndrome: an increased number of mitochondria.
While energy production is vital, too many mitochondria can damage a cell and its DNA by producing harmful molecules.
"These harmful molecules, called reactive oxygen species, are known to attack DNA, creating mutations that can lead to pre-leukemia and, eventually, leukemia," explains Dr. Andrew Marderstein, from Stanford University and the first author of the study.
The findings from the study underscore the importance of understanding the intricate relationship between genetics and the cellular environment of blood cells in individuals with Down syndrome.
"This study is the largest of its kind, and it shows that the environment and genetic makeup of cells are crucial in understanding how blood cells and leukemia develop. Understanding these mechanisms is essential for guiding future research in stem cell biology and cancer," says Professor Ana Cvejic, who emphasizes that these insights pave the way for a better comprehension of disease development in Down syndrome.
More information: Ana Cvejic, Single-cell multi-omics map of human fetal blood in Down syndrome, Nature (2024). DOI: 10.1038/s41586-024-07946-4. Www.Nature.Com/articles/s41586-024-07946-4
Citation: Study reveals why children with Down syndrome have higher risk of leukemia (2024, September 25) retrieved 25 September 2024 from https://medicalxpress.Com/news/2024-09-reveals-children-syndrome-higher-leukemia.Html
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Chronic Lymphocytic Leukemia (CLL) Vs. Multiple Myeloma
CLL and multiple myeloma are two types of blood cancer that have some similarities and differences. Both conditions may not cause symptoms at first but can include fatigue, swollen lymph nodes, and unexplained weight loss.
Blood cancer is an umbrella term for cancers that affect your blood cells and bone marrow. Experts have discovered more than 100 types of blood cancer, which fall into three primary categories:
Each category of blood cancer can fall into subcategories depending on how the cancer develops and the type of cells affected.
Chronic lymphocytic leukemia (CLL) is the most common form of leukemia in adults. Multiple myeloma is the most common form of plasma cell tumor. If the CLL process occurs in the lymph nodes, it's called small lymphocytic lymphoma (SLL).
This article examines the similarities, differences, and possible connections between CLL and multiple myeloma.
CLL is the most common type of leukemia in adults in Western countries. The American Cancer Society (ACS) estimates that 20,700 people in the United States will receive a CLL diagnosis in 2024.
The term "chronic lymphocytic leukemia" describes how and where it develops. Chronic leukemias tend to develop slowly. Lymphocytic leukemias develop in a type of white blood cell called lymphocytes.
CLL develops in a specific type of lymphocyte in your bone marrow called B cells. Healthy B cells help your body fight infections, but leukemic B cells develop abnormally and can't fight infections in the same way.
As CLL progresses, your body makes more leukemic B cells that crowd out healthy blood cells. Having fewer healthy white blood cells weakens your immune system and makes you more prone to infections.
People with CLL often don't have symptoms in the early stages. In fact, about 50% to 75% of people with CLL don't have any symptoms at the time of diagnosis.
The exact cause of CLL is not known, but experts have identified several risk factors:
Multiple myeloma is a type of blood cancer that develops in plasma cells. Plasma cells are white blood cells that develop from B cells in response to an infection. They play an important role in your immune system due to their ability to produce antibodies, which are proteins that help your immune system recognize foreign invaders.
In people with multiple myeloma, abnormal plasma cells replicate abnormally and crowd out healthy blood cells.
The National Cancer Institute estimates there will be 35,780 new cases of multiple myeloma in 2024 in the United States.
It is unclear exactly why multiple myeloma develops, but it's thought to start when an abnormal plasma cell replicates more rapidly than it should.
Risk factors for developing multiple myeloma include:
CLL develops in B cells in your bone marrow. Multiple myeloma develops in plasma cells, which are B cells that become activated in response to an infection. Cancerous plasma cells produce a type of protein called M protein.
M protein buildup in people with multiple myeloma tends to cause "CRAB" symptoms:
Although both conditions cause many of the same symptoms, high levels of calcium and M proteins in multiple myeloma can cause unique symptoms such as vision problems, kidney failure, and confusion.
Here is an overview of the main differences between CLL and multiple myeloma:
Understanding Rashes And Bruising In Leukemia
If you have leukemia and your damaged white blood cells outnumber healthy ones, you may develop skin symptoms, like rashes, bruising, and mouth sores.
Leukemia is a type of blood cancer that develops in the bone marrow, where blood cells are made. It causes the body to make a large number of abnormal white blood cells.
White blood cells normally protect the body against infection. In leukemia, damaged white blood cells crowd out healthy blood cells, causing skin symptoms.
In 2021, around 508,796 people were living with leukemia in the United States, according to the National Cancer Institute (NCI). Additionally, an estimated amount of 62,770 new cases were predicted for 2024.
In this article, find out more about the skin symptoms leukemia can cause.
Common skin symptoms with leukemia include:
Tiny spots called petechiae
One symptom that some people with leukemia might notice is tiny red spots on their skin. These pinpoints of blood are called petechiae. On fair and light skin tones, these may appear as red dots. On darker skin tones, they may be darker than the surrounding skin and less noticeable.
Petechiae usually occurs where blood is most likely to accumulate, such as in your:
The spots are caused by tiny broken blood vessels, called capillaries, under the skin. Normally, platelets, the disc-shaped cells in the blood, help your blood clot. But with leukemia, your body does not have enough platelets to seal off the broken blood vessels.
Mouth sores and swollen gums
Mouth sores are common with some types of leukemia. In fact, some researchers say newly appearing mouth ulcers and swollen gums may be an early sign of AML.
These changes may happen because of low levels of white blood cells or anemia.
Leukemia cutis
Leukemia cutis refers to various signs that can occur when leukemia affects your skin. It may appear before, alongside, or after other leukemia symptoms, but experts say it is rare. It happens when leukemia cells travel to the skin.
Symptoms may affect your face, trunk (torso), and extremities and include:
Bruises
A bruise develops when blood vessels under your skin are damaged. People with leukemia are more likely to bruise because their bodies don't make enough platelets to plug bleeding blood vessels.
Leukemia bruises look like any other kind of bruise, but there tend to be more of them than usual. Additionally, they may show up on unusual areas of your body, such as your back.
Easy bleeding
The same lack of platelets that cause bruising also leads to bleeding. People with leukemia may bleed more than they would expect even from a small injury, such as a tiny cut.
They may also notice bleeding from areas where there is no injury, such as their gums or nose. Injuries often bleed more than normal, and the bleeding may be unusually hard to stop.
Change in skin color
Although leukemia can leave dark-colored rashes or bruises on your body, it can also affect your skin color in other ways.
People with leukemia who have fair skin tones may look pale because of anemia. If you have anemia and you have a darker skin tone, you may notice that the mucous membranes in your mouth, nose, or eyes look blueish or gray.
Anemia is a condition in which your body has a low number of red blood cells. Without enough red blood cells to carry oxygen to the body, anemia can cause symptoms such as:
If you have leukemia, skin changes can also happen for other reasons, such as an infection or an allergic or sensitivity reaction, for example, to drugs.
When your body cannot produce enough white blood cells, it may become easier for several common infections and other problems to develop. This is because your immune system finds it harder to stop them.
Ringworm and other fungal infections
Leukemia affects the immune system, making it harder to build an immune response against fungal and other infections. Research from 2011 notes that these types of infections can affect people with leukemia in different ways and for different reasons, depending on the type of leukemia and treatment options.
Some fungal infections can become life threatening. It is essential to follow your doctor's instructions about how to prevent them and what to do if they happen. Fungal infections can include:
Many types of fungal infections can affect people with leukemia. It's best to tell your doctor as soon as you notice any changes so they can help you manage them.
Folliculitis
Folliculitis is an infection that affects your hair follicles. It's usually caused by bacteria, but it can be fungal or viral. If you have a weakened immune system, you may have a higher risk of contracting it.
Depending on the cause, symptoms can include:
Vasculitis
Vasculitis is an inflammation of small blood vessels and capillaries. If you have leukemia or another condition that affects the immune system, you may have a higher risk of leukocytoclastic vasculitis.
Symptoms include purple or darker areas on the skin, which may feel different to the touch than the surrounding skin. They can range from 1 millimeter to 1 centimeter in diameter.
Skin ulceration can occur in some cases. If you notice these types of changes, it is best to speak with your doctor.
Sweet syndrome
Skin changes often appear suddenly, and there may also be a fever. Symptoms may go away without treatment, but if you have a diagnosis of leukemia, it is best to ask your doctor's advice as you may need treatment.
Allergic reactions to treatment
Some drugs can cause skin rashes.
Morbilliform drug eruption is a common immune reaction to prescription drugs. People with a weakened immune system have a higher risk of developing this type of rash.
A rash may appear 1 to 2 weeks after starting a drug, but it can occur up to a week after finishing the medication. If you start taking the drug again, the rash may come back after 1 to 2 days.
The skin may become pink to red on any skin tone. The changes in color may be harder to see on darker skin, or the pink or red may be darker.
In most cases, complications don't arise, and the rash goes away after stopping the drug. But it's important not to stop using any medication without first checking with your doctor.
Chemotherapy, radiation therapy, and other cancer treatments can also cause a rash, dry skin, and other skin changes. Before starting any new treatment, speak with your doctor about what to expect and when to ask for help.
Leukemia has a variety of symptoms, which will depend on the type of leukemia you have. Many of these are caused by a lack of healthy blood cells. In addition to skin symptoms, the American Cancer Society (ACS) lists the following as common symptoms when a person has a low blood cell count:
Leukemia is not the only possible cause of many of these symptoms, but blood tests and other tests can help your doctor confirm or rule out a diagnosis.
Acute lymphocytic leukemia
Chronic myeloid leukemia
Childhood leukemia
If you have been diagnosed with leukemia, your doctor will tell you what to look for and what to do if you experience symptoms.
If leukemia or your treatment has weakened your immune system, it's best to seek medical advice as soon as any concerns arise. Your healthcare team can help you manage these symptoms.
If you do not have leukemia, it's worth remembering that rashes and skin changes can happen for many reasons. However, if other signs are causing concern, ask a doctor to check them out.
Many skin changes improve with treatment, and it can be a good idea to rule out more serious causes.
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