A team of international scientists has developed a method to predict the risk of developing cancer from a blood disorder common in older adults, according to a study published in the journal Blood.
Clonal cytopenia of undetermined significance (CCUS) is characterized by mutations in blood cells and a low blood count without an apparent cause or blood cancer. While the cause of the condition is not fully understood, research has shown that CCUS can often evolve into blood cancer, said Yasmin Abaza, MD, assistant professor of Medicine in the Division of Hematology and Oncology, who was a co-author of the study.
“CCUS is an entity where patients do not have a malignancy – if you do a bone marrow biopsy, you’ll find no disease in the bone marrow,” said Abaza, who is also a member of the Robert H. Lurie Comprehensive Cancer Center of Northwestern University. “However, we do find that they have myeloid-associated gene mutations. Patients who have CCUS have a 10 times higher risk of developing malignancies such as myelodysplastic syndromes or acute myeloid leukemia.”
In the study, Abaza and her collaborators studied more than 350 patients with CCUS. After analyzing the data and the interplay between genetic mutations, low counts and outcomes, the scientists developed a scoring system to be better risk stratify patients and predict risk of developing a blood cancer. Finally, scientists validated the model in a separate group of 100 CCUS patients and found that it accurately predicted the risk of blood cancer.
The findings show that a risk scoring system can be helpful to identify which patients are most likely to develop cancer and therefore may potentially benefit from early intervention in the future, Abaza said.
“The take-home message from this is that there’s three major predictors of outcomes in these patients,” Abaza said. “If you have particular mutations, we call them splicing factor mutations, that’s one of the major weights in determining prognosis. Also, if you have a platelet count less than 100. The third is having two or more genetic mutations.”
Moving forward, Abaza hopes to incorporate the scoring system into future clinical trial designs for CCUS patients.
“This scoring system has not been adopted yet, but hopefully as we have more patients and further validate and compare it to other scoring systems, later on it could be implemented clinically,” Abaza said.
The study was supported by Cancer Research UK, and the International Accelerator Award Program.
About the Clonal Hematopoiesis Program at Lurie Cancer
Northwestern is home to a multidisciplinary clonal hematopoiesis clinic that specializes in patients with CCUS. Patients are assessed in the clinic by a hematologist, cardio-oncologist and genetic counselor, who work together to form a comprehensive treatment and management plan. Abaza’s patients are also tested for genetic disorders, as investigators try to understand the mechanisms behind this poorly understood disorder.
“We have a multidisciplinary clinic at Northwestern, including two clinical trials that will be open hopefully by June that will help offer treatment for high-risk CCUS patients who do not currently have treatment options,” Abaza said. “CCUS is an uncharted territory. It’s a brand-new kind of entity in the field of myeloid malignancies and there’s no approved medications yet. We are thankfully one of the sites that will have two of these clinical trials to try to help these individuals.”
