How and when does the disorder progress to leukemia?

As discussed above, there is a wide range in families regarding the frequency of individuals who develop leukemia in their lifetimes.  The mechanisms by which mutations in RUNX1 predispose FPD/AML patients to leukemia are not entirely known. The RUNX1 mutation by itself is insufficient to cause leukemia, but when there are additional mutations that develop in the bone marrow over time, leukemia can form.  There is evidence that patients with FPD/AML accumulate these additional mutations in their blood cells more rapidly than normal individuals.

What can I do to prevent progression to leukemia?

As for lifestyle changes that can be made to prevent the subsequent mutations that lead to cancer, it is readily accepted that maintaining a healthy body weight, eating a healthy, anti-inflammatory diet, being mindful of sun exposure, not smoking, being moderate with alcohol consumption, preventing exposure to radiation/benzene/insecticide/pesticide/harmful chemicals, and keeping active are helpful preventative measures. It is also recommended to have yearly blood panels run by your general practitioner or hematologist to keep abreast of any changes.

What type of leukemia does RUNX1 FPD/AML 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 individuals are also at risk for the development of myelodysplastic syndromes (MDS), which is a pre-leukemia, as well as T-cell acute lymphoblastic leukemia (T-ALL) and also B cell malignancies.  

AML is acute myeloid leukemia (also known as acute myelogenous leukemia or acute nonlymphoctyic 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.

T-ALL is T-cell acute lymphoblastic leukemia, which affects the lymphoid lineage, specifically those called T lymphocytes.

B cell malignancies are types of lymphoma affecting B cells.  Lymphomas are blood cancers in the lymph nodes.


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