Hereditary leukemia syndromes: What patients and their families should know

Certain genetic changes, or mutations, can increase a person’s chances of developing cancer. These changes, known as hereditary cancer syndromes, can be passed down from parent to child. Hereditary leukemia is one of the newest areas our experts are studying. Courtney DiNardo, M.D., and genetic counselor Sarah Bannon with MD Anderson’s Hereditary Leukemia Clinic are among a handful of health care providers worldwide specializing in hereditary leukemia syndromes. They recently spoke with us about hereditary leukemia and what having one of these syndromes means for patients and their family members. Here’s what they had to say. What genes cause hereditary leukemia? Researchers have identified about a dozen unique syndromes for hereditary leukemia, and that list is growing every year. For a long time, leukemia was thought to be sporadic and not hereditary, even though it clearly ran in some families. In 2008, one of the first genes linked to leukemia — RUNX1 — was identified and became available for genetic testing in 2008. People who inherit changes in the RUNX1 gene can face a higher risk of acute myeloid leukemia (AML). The RUNX1 mutation can also cause the carrier to have a lower platelet count, which plays an important role in blood clotting. Once that gene was identified, more major research was conducted to see if there were more gene mutations linked to hereditary leukemia. These efforts have paid off. Of these dozen or so genes, about nine of them have been discovered since 2013. We’ve found that these genes can cause different types of leukemia and related conditions, including AML, myelodysplastic syndrome (MDS), acute lymphoblastic leukemia (ALL) and...