CHIP – A Promising Genetic Discovery for MDS, AML and Cardiovascular Disease | Aplastic Anemia & MDS International Foundation

CHIP – A Promising Genetic Discovery for MDS, AML and Cardiovascular Disease

Original Publication Date: 
Thursday, August 30, 2018
Article Source: 
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Thanks to recent advances in genetic analysis techniques, scientists studying how genetic mutations impact the progression of bone marrow failure have discovered how these mutations may also affect cardiovascular disease.  An example of this is new research that has shown how a buildup of mutated stem cells in the bone marrow may be a risk factor not only for hematologic malignancy but also heart disease. This condition is known as clonal hematopoiesis of indeterminate potential, or CHIP.

The key word in understanding the significance of CHIP is “indeterminate,” because researchers are still trying to identify how much of an impact the presence of CHIP has on the development of hematologic neoplasia or cardiovascular conditions and what other factors may contribute to that risk. 

A recent article in Mayo Clinic Proceedings by David Steensma, MD, of the Adult Leukemia Program at Dana-Farber Cancer Institute, included these key points about CHIP:

  • Clonal hematopoiesis - expansion of genetically identical blood cells derived from a single hematopoietic stem cell - is commonly observed in older persons.
  • Clonal hematopoiesis is a risk factor for hematologic neoplasia, cardiovascular events, and overall mortality.
  • Clonal hematopoiesis can also be observed in other settings, such as aplastic anemia, after therapy for a nonmyeloid neoplasm, after stem cell transplant, or after therapy for acute myeloid leukemia; clonal hematopoiesis has distinct implications in each of these settings.
  • Clonal hematopoiesis cannot be treated directly, but clinical management includes monitoring for disease progression and attention to cardiovascular risk factors.


Clinical Implications of Clonal Hematopoiesis

Steensma, David P.

Mayo Clinic Proceedings , Volume 93 , Issue 8 , 1122 - 1130

Although CHIP is fairly common at low levels in the general population, it is still rare for most people with this mutation to develop a malignancy.  According to past AAMDSIF grantee Matthew Walter, MD of Washington University in St. Louis, aging and other factors such as inflammation, other forms of stress, and exposure to chemotherapy or other toxins may contribute to the likelihood of someone with CHIP progressing to a malignant state. “Putting selective pressure on a person’s system might cause the number of clonal cells to rise and then become detectable,” Walter said. 


Determining CHIP’s Potential

The possible link of CHIP to heart disease was first identified by Benjamin Ebert, MD, of Dana-Farber Cancer Institute and a member of the AAMDSIF Medical Advisory Board.  In reviewing genetic data from cardiology colleagues at the Broad Institute, they noted that the presence of CHIP doubled the risk of a heart attack in typical patients and increased the risk fourfold in those who had a previous heart attack earlier in life.  They are conducting further studies to determine if the mutated white blood cells might be causing inflammation and leading to atherosclerosis.


Scientists Discover a Bone-Deep Risk for Heart Disease


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