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We commit to providing the latest information on RUNX1-FPD. We continue to add to and update our frequently asked questions list below. Please contact us directly if you can’t find an answer to your question.

 
 
 

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FAQs

  • What is RUNX1-FPD?

    RUNX1-FPD is a hereditary blood disorder which predisposes an individual to developing blood cancer in his or her lifetime. Individuals with RUNX1-FPD have only one healthy RUNX1 gene, as the second is mutated.

  • What is RUNX1?

    RUNX1 is a gene located on chromosome 21 in humans. It encodes a protein that is also called RUNX1. RUNX1 is a transcription factor, meaning it helps to regulate the expression of (meaning it turns on or off) other genes important for the healthy functioning of our blood system. RUNX1 is particularly important for the formation and function of blood cells.

  • How do mutations in RUNX1 cause the familial platelet disorder?

    RUNX1-FPD patients have a permanent alteration in the DNA sequence within the RUNX1 gene. This results in either no RUNX1 protein being made or a dysfunctional RUNX1 protein. A normal amount of RUNX1 protein is required for the proper development of megakaryoctyes, and these cells are what produce platelets (the part of our blood responsible for clotting). Hence, individuals with RUNX1-FPD typically have low platelet counts (thrombocytopenia) along with dysfunctional platelets. See below for how RUNX1-FPD can progress to blood cancer.

  • What is thrombocytopenia?

    Thrombocytopenia is defined as a low platelet count. Each laboratory has its own normal range for platelet counts, but a common lower limit of normal is often stated at 150,000/µL. A common upper limit for a normal platelet count is often stated at 450,000/µL. The platelet count alone in a person with RUNX1-FPD can be misleading because some people/families have platelet counts within the normal range. This probably contributes to the under-diagnosis of RUNX1-FPD. In general, the lower the platelet count, the greater the bleeding risk. Bleeding due to thrombocytopenia tends to involve excessive or large skin bruises termed “purpura” disproportionate to any trauma, and also “petechiae”, which are pinpoint burst blood vessels. Nosebleeds, gum oozing, heavy periods or hemorrhage at childbirth for women, and bleeding with surgery may all be seen with thrombocytopenia. Intracranial bleeds into the brain are the most serious bleeding issues and may occur after little or no head trauma

  • Can RUNX1 mutations be corrected and re-transplanted into human patients?

    Not yet. Scientific developments such as CRIPSR gene-editing technology hold promise for correcting gene mutations in blood stem cells. Things are changing quickly in this area, and we are actively following developments in how this technology is being applied to other blood-related diseases such as sickle-cell anemia and thalassemia.

  • Can I live a normal life with RUNX1-FPD?

    For the most part, yes. Individuals with RUNX1-FPD typically present with low platelets (thrombocytopenia), and the platelets they have are functionally impaired, causing bleeding problems such as nose bleeds, excessive bleeding during minor surgery, and easy bruising. The severity of one’s platelet count determines the quality of one’s life. While the bleeding manifestations in RUNX1-FPD do not require daily attention, being followed by a hematologist with expertise in platelet disorders is important for several reasons including the need to receive proper education and to optimize care. It is typically recommended to avoid aspirin and non-steroidal analgesics (such as ibuprofen), to maintain optimal dental and gum care, and to know how to manage nosebleeds and the warning signs of an intracranial bleed. Management of menorrhagia is usually done in combination with a gynecologist. It is highly important that both your surgeon and hematologist are in contact for correct surgical management. In terms of progression to blood cancer, RUNX1-FPD carries an approximate 50 percent lifetime risk of blood cancer through the acquisition of additional mutations in other genes.* Preliminary clinical data suggests that inflammatory manifestations are more common than previously described for RUNX1-FPD patients. These include, for example, psoriasis, eczema, rheumatoid arthritis, allergies, irritable bowel syndrome. Interestingly, RRP-funded research has shown that there may be an association between lower levels of RUNX1 and inflammation. One should not underestimate the psychological burden, on both the individual and his or her family, of living with a cancer predisposition. The NIH’s RUNX1-FPD Clinical Research Study will assist with screening certain individuals and families with a strong clinical suspicion of a germline RUNX1 mutation. The Study is now open. Please click here for more information and to express interest: Clinical Research Study.

    * According to a 2014 review of 11 FPD/AML papers, "Distinct FPD/AML families have varying risks of progression to myeloid malignancy (range, 11%-100%; median, 44%).” Godley, Lucy A., “Inherited Predisposition to Acute Myeloid Leukemia”.

  • How to get screened to confirm RUNX1-FPD?

    Blood tests are used to confirm the disorder. Your hematologist/oncologist will ask you about symptoms and family history and then can request blood or bone marrow samples to be sequenced in order to confirm a RUNX1 mutation. Typically, those with RUNX1-FPD present with low platelets (thrombocytopenia), and the platelets they have are functionally impaired. One may experience more bruising and bleeding than the norm, slower blood clotting, and females can suffer from menorrhagia. Note that there have been some patients with RUNX1-FPD who fall in the low range of normal platelet counts; however, their platelets may still be dysfunctional. The NIH’s RUNX1-FPD Clinical Research Study will screen all individuals and families with a strong clinical suspicion of a germline RUNX1 mutation. The Study is now open. Please click here for more information and to express interest: Clinical Research Study.

  • Will my health insurance cover the costs of genetic testing?

    If you and your doctor suspect that you have a RUNX1 mutation, you can get free genetic testing through the NIH’s RUNX1-FPD Clinical Research Study. The Study investigators will screen individuals and families with a strong clinical indication of a germline RUNX1 mutation. The Study is now open. For more information, and to express interest, please visit NIH’s RUNX1-FPD Clinical Research Study.

  • Who gets RUNX1-FPD?

    Anyone can have RUNX1-FPD; people of any race or ethnicity, with patients across the world. Although considered a rare disorder, the frequency of RUNX1-FPD has been historically underestimated. Incidence has increased in recent years with awareness and access to genetic testing. We estimate that there are between 20,000 – 70,000 RUNX1-FPD patients in the US alone. RUNX1-FPD is an ‘autosomal dominant’ disorder. ‘Autosomal’ because the RUNX1 gene is located on human chromosome 21, which is not one of our sex chromosomes (X/Y). ‘Dominant’ because it only takes a mutation of one of the two copies of RUNX1 to give you the condition. Additionally, a person affected by an autosomal dominant disorder has a 50 percent chance of passing the mutated gene with each pregnancy. The chance that a child will not inherit the mutated gene is also 50 percent. Only one parent needs to have the genetic mutation to pass it on to their children, and if a sibling has the disease, there is no greater or lesser likelihood of the other siblings having it also. Children who do not inherit the abnormal gene will not develop nor pass on the disease. The age at which a RUNX1-FPD patient develops blood cancer varies greatly both within and between families. The RUNX1 Research Program is currently funding grants to understand the biology of the disorder and how it progresses to cancer. We know that subsequent secondary (somatic) genetic mutations must be acquired over one’s lifetime. It is generally accepted that certain healthy lifestyle habits prevent the acquisition of subsequent genetic mutations. Maintaining a healthy body weight, eating a healthy, anti-inflammatory diet, being mindful of sun exposure, not smoking, moderate alcohol consumption, preventing exposure to radiation / benzene / insecticide / pesticide / harmful chemicals, and keeping active are helpful preventative measures. Additionally, it has been established that chronic stress increases risk of disease, so maintaining a balanced lifestyle where stress levels can be kept in check via mind-body practices such as meditation may be beneficial.

  • How and when does the disorder progress to a blood cancer?

    We know it takes additional somatic (secondary) mutations beyond the initial germline (inherited) mutation in RUNX1 to drive the formation of blood cancer. There is evidence that patients with RUNX1-FPD accumulate these subsequent mutations in their blood cells more rapidly than normal individuals. Our 2018 independent grant to fund an international mutation database, as well as our partnership with the NIH on the RUNX1-FPD Clinical Research Study, will provide much needed data to provide a better understanding of the underlying biology of the disorder and the mechanisms that drive progression to blood cancer.

  • What can I do to prevent progression to blood cancer?

    As for lifestyle changes that can be made to prevent the subsequent mutations that lead to cancer, it is readily accepted that preventative measures include:

    ■ Maintaining a healthy body weight

    ■ Eating a healthy, anti-inflammatory diet

    ■ Being mindful of sun exposure

    ■ Not smoking

    ■ Moderate alcohol consumption

    ■ Limiting exposure to radiation / benzene / insecticide / pesticide / harmful chemicals

    ■ Maintaining an active lifestyle

    Additionally, it has been established that chronic stress increases risk of disease, so maintaining a balanced lifestyle where stress levels can be kept in check via mind-body practices such as meditation may be beneficial. It is also recommended to have yearly blood panels run by your general practitioner or hematologist to keep abreast of any changes.

    Through our joint grant offering with The Leukemia and Lymphoma Society, we fund ‘translational research’ into our disorder. Translational research applies research findings to a direct, practical human context, aiming to ‘translate’ findings into directing medical practices. For example, researchers may find that a drug that could work on promoting one of the two functional RUNX1 genes, thereby keeping RUNX1 functionality up and preventing the onset of disease. When you subscribe to our newsletter, we aim to keep you informed about research that could affect your livelihood.

    Should we learn of any other proven clinical management or lifestyle suggestions to prevent the disorder progressing to leukemia, we will inform you.

  • What type of blood cancer does RUNX1-FPD lead to?

    Originally, the term FPD/AML was created because the first families showed development of acute myeloid leukemia (AML). With time, we have recognized that RUNX1-FPD individuals are also at risk for the development of myelodysplastic syndromes (MDS), acute lymphoblastic leukemia (ALL) and also B cell malignancies. For this reason, FPD/AML is also sometimes referred to as FPDMM (familial platelet disorder with myeloid malignancies), and now, more commonly, simply RUNX1-FPD. AML is acute myeloid leukemia (also known as acute myelogenous leukemia or acute nonlymphocytic leukemia), a cancer of the myeloid line of blood cells, characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells. AML is the most common acute leukemia affecting adults and accounts for roughly 1.2 percent of cancer deaths in the United States. MDS stands for myelodysplastic syndromes – a group of diverse bone marrow disorders in which the bone marrow does not produce enough healthy blood cells. MDS is often referred to as a “bone marrow failure disorder”. Failure of the bone marrow to produce mature healthy cells is a gradual process. The patient suffers cytopenias (reduced blood or cell counts) which can impair the body’s ability to fight infections and control bleeding. ALL is acute lymphoblastic leukemia, which affects the lymphoid lineage. B cell malignancies are types of lymphoma affecting B cells. Lymphomas are blood cancers in the lymph nodes, the most commonly known one being Non-Hodgkin lymphoma. Please visit the Leukemia and Lymphoma Society website for more information about leukemia types, support groups and other relevant information. There you will also find information to educate yourself generally about treatment options.

 
 
 

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Additional Resources

  • Partner Sites

    http://www.lls.org/

    The Leukemia & Lymphoma Society is the largest voluntary health organization dedicated to funding research, finding cures and ensuring access to treatments for blood cancer patients.

    http://www.alexslemonade.org

    Alex’s Lemonade Stand Foundation for Childhood Cancer.  ALSF is a national childhood cancer foundation dedicated to raising funds for research into new treatments and cures for all children battling cancer.

  • Foundations

    http://www.mds-foundation.org

    The Myelodysplastic Syndromes Foundation, Inc. The foundation was established by an international group of physicians and researchers to provide information relating to MDS.

    http://epefoundation.org/

    Edward P. Evans Foundation. Foundation geared to understanding MDS, improving diagnostics, therapy and care for patients.

    https://thevirginiarosefoundation.weebly.com/

    The foundation works to help families fighting pediatric cancer, and to raise awareness in communities.

    http://www.gabriellesangels.org

    Gabrielle’s Angel Foundation for Cancer Research encourages the development of more effective therapies for patients with leukemia, lymphoma and related cancers.

    http://www.jimmyv.org

    The V Foundation is a charitable organization dedicated to saving lives by helping to find a cure for cancer.

  • Research

    https://www.ncbi.nlm.nih.gov/pubmed

    PubMed comprises more than 26 million citations for biomedical literature from MEDLINE, life science journals, and online books. It is a free resource from the National Center for Biotechnology Information (NCBI), at the U.S. National Library of Medicine (NLM), located at the National Institutes of Health (NIH).

  • Bone Marrow/Stem Cell Transplant

    http://www.bmtinfonet.org

    Blood and Marrow Transplant Information Network provides support for transplant patients and their families.

    http://www.nbmtlink.org

    The National Bone Marrow Transplant Link provides information and support services to patients and families RE: stem cell transplant challenges.

    http://www.bethematch.org

    Operated by the National Marrow Donor Program, http://www.marrow.org, this is the largest and most diverse marrow registry in the world.

  • Cancer

    http://www.cancer.gov

    American Cancer Society is a nationwide, community-based, voluntary health organization dedicated to eliminating cancer as a major health problem.

  • Government Organizations

    http://www.cancer.gov

    The National Cancer Institute is the federal government’s principal agency for cancer research and training.

  • Health Insurance

    http://www.dol.gov/ebsa/faqs/faq_consumer_cobra.html

    COBRA health insurance provides certain people with temporary continuation of health coverage at group rates.

    http://www.medicaid.gov/index.html

    Medicaid Health Insurance provides health care coverage for some people who cannot afford it.

  • Hematology

    http://www.hematology.org/patients

    The mission of the American Society of Hematology (ASH) is to further the understanding, diagnosis, treatment, and prevention of disorders affecting the blood by promoting research, clinical care, education, training, and advocacy in hematology. The Find a Hematologist feature helps to match patients with practicing hematologists in their area.

  • Rare Diseases

    http://www.globalgenes.org

    Global Genes is one of the leading rare disease patient advocacy organizations in the world, promoting the needs of the rare disease community.

    http://www.rarediseases.info.nih.gov

    The National Institutes of Health Office of Rare Diseases offers information about rare diseases, including links to support groups.

    http://www.rarediseases.org

    National Organization for Rare Disorders (NORD) offers information and patient networking regarding rare diseases.

    http://www.rarescience.org

    Rare Science is a nonprofit research organization that focuses on identifying therapeutic solutions for kids with rare diseases.