Clonal Hematopoiesis Risk

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Associate Director: Ross Levine
Scientific Leads: Kelly Bolton and Elli Papaemmanuil
Operational Lead: Minal Patel

Project Description: Certain molecular signatures in the blood can identify primary and secondary blood cancers at a very early stage, when these cancers are much easier to treat. Recently, large-scale sequencing studies have shown that mutations in leukemia-associated genes result in clonal hematopoiesis (CH) in healthy people who have no evidence of blood cancer. While such individuals have normal production of blood cells, the presence of CH is associated with an increased risk of blood cancer in the future, particularly myeloid malignancies.

For people who undergo treatment for an unrelated cancer, the impact of CH on the risk of a secondary blood cancer and the role of ongoing cancer therapy in the development of these secondary cancers has not been well studied. Our preliminary data show that individuals with CH who undergo cancer treatment are at an increased risk of developing therapy-related blood cancers. They also have worse treatment outcomes for their primary tumor.

This project aims to develop a diagnostic test based on CH to evaluate the risk of both primary and secondary blood cancers. To identify those at risk, a screening diagnostic test of a targeted panel of genes involved in CH will be created and will be applied to a focused group of people. The people who are stratified as at a high risk by the CH test will be referred to our CH clinic for in-depth clinical and laboratory evaluation as well as genomic analysis.