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Targeting splicing factor mutant myelodysplastic syndromes through GSK-3
Myelodysplasia (MDS) is a lethal stem cell disorder characterized by defective blood formation and progression to leukemia. MDS is frequently caused by mutations in splicing factors, but these mutations also create an Achille’s heel that can be targeted to kill MDS cells while sparing normal blood cells. We identified a group of clinically safe drugs that target this weakness and selectively kill MDS cells in vitro. We will test whether these drugs are effective in mouse models of MDS.The International Prognostic Scoring System
Specific factors may affect the prognosis (likely outcome) of MDS, and help doctors determine when to start treatment and how intensive the treatment should be. These factors include:
Predisposing factors to leukemia
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Supportive Care
Treatment given to relieve the symptoms of a disease and the treatment’s side effects is known as supportive care. The goal of supportive care is to improve the patient’s quality of life and to relieve discomfort as much as possible. Supportive care is an important part of MDS treatment.
Laura
My mom raised seven kids before finding out she had myelodysplastic syndrome (MDS) and lymphoma, as well as Parkinson’s. She was going through treatment for the blood cancers, getting infusions of Rituxan® for the lymphoma, and transfusions of usually two units of blood when her red blood cell count was too low. We (us kids who live local) would sit with her (whoever was available) for the six+ hours it took for whichever treatment she was getting at the time. We played cards, fed her chocolate ice cream, laughed, and visited.
Imani
I was diagnosed with myelodysplastic syndrome (MDS) on my 11th birthday after having nosebleeds that lasted hours for months. Throughout my treatments, which included radiation and chemotherapy for a bone marrow transplant, it was my nurses who were there educating me and my family and helping me stay hopeful and entertained throughout the weeks. Even though it was really difficult, they helped us through it. I wanted to share my experience with other kids, so I wrote and published a book that I was able to dedicate and donate to my hospital a few years later.
Lisa
It was 2009. Obama had just been sworn in as president, captain Sully successfully landed United Airlines flight 1549 on the Hudson River during an aircraft malfunction, and all souls on board survived.
Pam
I was diagnosed with myelodysplastic syndrome (MDS) in December of 2020. I went through six treatments from January 2021 to June 2021. The treatments were a series of shots for seven days at the beginning of the month. In July 2021, I was approved for my stem cell transplant at The James Cancer Center, The Ohio State University in Columbus, Ohio. I had my stem cell transplant on July 29. I handled the stem cell transplant very well and was declared in complete remission from the months of September to November 2021.
Facts and Statistics Overview
Leukemia, lymphoma, myeloma, myelodysplastic syndromes (MDS), and myeloproliferative neoplasms (MPNs) are types of cancer that can affect the bone marrow, the blood cells, the lymph nodes, and other parts of the lymphatic system.
Click on the links below to view statistics about each disease:
Carlos
I was diagnosed in September 2017 with myelodysplastic syndromes (MDS), and by May 2019, I was told of the need for a bone marrow transplant (BMT). And even though they told me about a "new life after transplant," my life has completely changed. I could not go back to work because of graft vs. host disease (GVHD) and multiple infections during and post-transplant. I’m still on immunosuppressants and chemo-brain with cognitive issues. It has been very hard not to return to practicing Family Medicine since my patients could literally kill me.
Signs and Symptoms
Some patients initially have no symptoms of MDS, and abnormal results from routine blood tests may be the earliest signs of the disease. For patients with symptoms, it is common not to feel well because of the lack of normal, healthy blood cells.
Anemia is a decrease in the number of healthy red blood cells. Red blood cells carry oxygen throughout the body. Anemia may cause symptoms such as:
Stem Cell Transplantation
Allogeneic Stem Cell TransplantationAn allogeneic stem cell transplantation is a treatment that uses stem cells from a healthy donor to restore a patient’s bone marrow that is damaged or diseased after receiving high doses of chemotherapy and/or radiation therapy. Allogeneic stem cell transplantation remains the only potential cure for MDS.
Childhood and Adolescent Blood Cancer Facts and Statistics
Childhood and Adolescent Blood Cancers- An estimated 54,868 children and adolescents younger than 20 years in the US are living with or in remission from leukemia, lymphoma, myeloma, myelodysplastic syndromes (MDS) or myeloproliferative neoplasms (MPNs).
- Leukemia is the most common cancer diagnosed in children and adolescents younger than 20 years and accounts for 25.4 percent of all cancer cases in this age-group.
- From 2016 to 2020, the most recent 5 years for which data are available, leukemia and lymphoma accounted for 38.4 percent of all cancer types in
Megan
I am a 12-year-old girl who likes to play soccer and basketball, and I am in 7th grade. I was diagnosed with myelodysplastic syndromes (MDS-EB) with monosomy 7. It is a blood cancer similar to leukemia. It is extremely rare for pediatric patients to receive this diagnosis, between 1-4 children out of every million.
Lauren
To be healed by the miracles of modern medicine and prayer was the most profound experience of my life. It is difficult to articulate the gratitude my family and I feel in our hearts for the people who made it so. There is no scenario where I would be here today, writing this account, without the research made possible by The Leukemia & Lymphoma Society (LLS).
Follow-Up Care
Those who have been treated for MDS are encouraged to:
Michael
My story is not so unlike many others. In May 2005, just two months after I retired, I was looking forward to the start of a terrific period of my life spending time with my family, traveling, relaxation and golf That's when I got that dreaded call: “Mr. Blackman, you need to come into my office. We need to talk.”
Dan
My name is Dan. I was first diagnosed with multiple myeloma (MM). After a battery of excruciating, painful biopsies and bloodwork, my doctors prescribed chemotherapy and Velcade once a week, then twice a month. My myeloma numbers were going way down, and my platelet count was diving straight to the bottom, single digits. My routine appointments with my doctor not in my city were going south. The doctor told me to stop taking all my cancer medications. What was happening to me was my MM was completely going into leukemia, a disease called myelodysplastic syndrome (MDS).
Madeline
My daughter is Madeline Conley. On January 7, 2014, three days after her 15th birthday, she was diagnosed with leukemia (AML/MDS). She was a high school cheerleader and cheer coach who was basically ripped out of her normal active life and immediately admitted to the hospital, where she spent the next five months. It was the scariest thing we've ever been through.
Barclay
I have gratitude for other people’s blood after getting diagnosed with MDS in November 2018. I received at least 50 units of blood and about the same amount of platelets until I got a bone marrow transplant in May 2019.
I never liked the sight of blood and I hated needles as a child. But I am getting used to getting poked frequently to give blood for labs or to receive doses of red blood or platelets. Since I was diagnosed with high risk myelodisplastic syndrome (two months ago) I have gotten 14 pints of blood and 12 pints of platelets so far.
Don
In January of 2016, my dad was diagnosed with stage 4 non-Hodgkin lymphoma (NHL). He was unresponsive to treatment. He went into remission, but it quickly came back. The clinic said they couldn’t do anything more, so he was referred to the University of Minnesota for a clinical trial. The treatment included me, as his daughter, donating my T-cells. The clinical trial was helpful but didn’t get the results he needed, and cancer came back.
Paul
I have been very active with The Leukemia & Lymphoma Society (LLS) for over 20 years including serving on the Wisconsin Chapter Board and Leadership Development Committee, fundraising for virtually all of the campaigns, patient mentoring, and advocacy leadership. When sharing my story and motives for involvement in “the early years,” I always qualified it by stating that I was motivated not to help myself but to pay it forward and hopefully contribute to improving the quality and quantity of life for future patients and families.
Is Leukemia Genetic?
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Dr. Rafael Bejar
I am a physician-scientist with a primary focus on treating and understanding blood cancers like MDS and AML. It's a job I love and one that has given a lot back to me over the years. However, it was also a very unlikely outcome for me. I was born in Montevideo, Uruguay where I lived until I was 5 years old. My parents were both recently minted physicians facing bleak job prospects in a hostile political environment at home who bravely sought out better opportunities abroad for themselves and their two children.