Mikkael A. Sekeres, MD

Mikkael A. Sekeres, MD, Professor of Medicine and Chief of the Division of Hematology, Sylvester Comprehensive Cancer Center of the University of Miami Miller School of Medicine, said the “fascinating” findings of the study reported by Bouzid et al make it worthy of an ASH Plenary Session presentation. The finding that CHIP abnormalities appear to be associated with protection against Alzheimer’s disease is not only a bit of good news for these patients, but helps to highlight the importance of addressing CHIP in the population, he said.

“CHIP abnormalities, the most common of which are TET2, ASXL1, and DNMT3A, are associated both with evolution to myeloid malignancies and heart disease. The study found less likelihood of acquiring Alzheimer’s disease in persons who had them. It’s almost a good news/bad news scenario, but wow,” Dr. Sekeres commented.

“The researchers also found CHIP in microglial cells, which are thought to be the brain’s immune scavenger system for plucking out the protein deposits associated with Alzheimer’s disease…. We believe the common pathway is inflammation,” he said.

Although these data are preliminary and their clinical implications remain unclear, Dr. Sekeres and some researchers have been proactive in working with CHIP mutation carriers. “Some of us have CHIP clinics within our hematology divisions to offer guidance to individuals in the community diagnosed with CHIP. I’ve gotten a lot of referrals since mutational testing has become more common. We…advise these individuals and engage them in preventive strategies where possible, for example, by connecting them to a high-risk cardiology clinic. For a patient with a TET2, ASXL1, or DNMT3A abnormality, who is at higher risk for leukemia, putting this into context for them…can be helpful,” Dr. Sekeres said. 

DISCLOSURE: Dr. Sekeres has served on a board of directors or advisory committee for Novartis, Takeda/Millennium, and Bristol Myers Squibb.