A genetic test carried out 30 days after stem cell transplantation may be able to predict myelodysplastic syndrome (MDS) relapse.1
MDS refers to a group of cancers characterized by dysfunctional blood cells. About one-third of patients progress to acute myeloid leukemia, a potentially fatal blood cancer.2
The only cure available for MDS is an allogenic hematopoietic stem cell transplant (HSCT).
During the procedure, the cancerous blood cells are cleared, using radiotherapy and chemotherapy, in a process known as conditioning. The blood-forming cells from a healthy donor are then transplanted into the patient.
But the disease can come back.
In some patients, such as older people or those with other health conditions, the intensity of the conditioning can be reduced. This protects them from the harmful effects of the radiation and chemotherapy, but means cancerous cells may get left behind.
After the procedure, monitoring for disease severity and recurrence is currently carried out by pathologists. Blood cells are studied under a microscope and doctors decide which proportion of them are abnormal, which makes the results subjective.
Researchers performed DNA sequencing on bone marrow and skin samples from 86 adults with MDS who were about to undergo HSCT.
Each person’s MDS presents as a personal “cancer fingerprint” of gene mutations. These were detected and recorded pre-transplant.
Sequencing was carried out again, 30 days after the transplant, to see if the “fingerprint” could still be detected.
MDS came back in 35 people, at a median of 141 days after the transplant. In total, 51 people had not relapsed within about a year of follow up.
Patients whose cancer fingerprints could still be detected 30 days after the transplant had a 53% chance of disease recurrence. This compares to a 13% chance for those with no genetic sign of cancer cells.
This equates to around a four times higher risk of disease recurrence in those who still carried the mutations.
An objective genetic test carried out 30 days after HSCT could be a much more effective predictor of relapse than the current method.
Senior author Dr. Matthew Walter, Professor of Medicine at the Washington University School of Medicine in St. Louis, said: “A genetic analysis is a much more precise method of measuring how many blood cells are cancerous.”
“It also lets us find abnormal cells at earlier time points after a stem cell transplant, when there are fewer cancerous cells to find. The earlier we can detect that the cancer is coming back, the more time we may have to intervene.”2
Duncavage EJ, Jacoby MA, Chang GS, Miller CA, Edwin N, Shao J, et al. Mutation Clearance after Transplantation for Myelodysplastic Syndrome. N Engl J Med 2018; 379:1028-1041.
- Duncavage EJ, Jacoby MA, Chang GS, Miller CA, Edwin N, Shao J, et al. Mutation Clearance after Transplantation for Myelodysplastic Syndrome. N Engl J Med 2018; 379:1028-1041.
- Washington University School of Medicine (2018, September 12). Genetic testing helps predict disease recurrence in myelodysplastic syndrome. Available from: from https://www.eurekalert.org/pub_releases/2018-09/wuso-gth091018.php (accessed January 2019).