Genotyping Effort Reveals Variants That May Guide Donor-Recipient Matching in Blood/Marrow Transplant

  • Team identifies genetic variants linked to poor post-transplant outcomes
  • Research may lead to better matching between patients and donors
  • Presentation honored with BMT Tandem Meeting Best Abstract Award

BUFFALO, N.Y. — Blood and marrow transplantation (BMT) is a standard therapy used to treat leukemias and other life-threatening blood diseases. A Roswell Park Comprehensive Cancer Center-led team has identified genetic variations in the DNA of both transplant recipients and their unrelated cell donors that were associated with poor patient outcomes. These findings provide new insights into the causes of disease relapse and may improve transplant donor selection.

The research was recognized with a “Best Abstract Award” — and was the top-rated abstract as voted on by abstract reviewers and conference chairs — at the annual BMT Tandem Meeting, to be held February 22–26 in Orlando, Fl. The research was led by Theresa Hahn, PhD, of the Department of Medicine at Roswell Park and Lara Sucheston-Campbell, PhD, of the Colleges of Pharmacy and Veterinary Medicine at The Ohio State University.

The team analyzed survival data submitted by more than 150 U.S. transplant centers for leukemia patients from 2000–2011. The researchers determined the genotypes (specific DNA sequences) of more than 9 million locations in DNA samples from patients diagnosed with acute lymphoblastic leukemia (ALL) and from their HLA-matched, unrelated donors. The genotypes were analyzed for significant associations with death within the first year after BMT from unrelated donors. They found that variants in two regions in the genomes of unrelated donors increased the risk of death and, additionally, that variants in two regions among patients with ALL are associated with relapse of disease.

“We believe that these findings will lead to a better understanding of the biology of this disease. Additionally, we expect that this work will eventually help clinical teams to identify unrelated donors with genotypes that yield better survival in transplant patients and enhance the chances for successful blood and marrow transplants,” says Dr. Hahn.

Dr. Hahn will discuss this work in her presentation, “Novel genetic variants associated with death due to acute lymphoblastic leukemia within one year after HLA-matched unrelated donor blood and marrow transplantation (DISCOVeRY-BMT Study),” on Friday, February 24, 3:15 p.m. at Gaylord Palms Convention Center, Florida Hall E.

Dr. Sucheston-Campbell will present a companion presentation based on this research, “Functional Genetic Variants on 14q32 Associate with Death Due to Acute Myeloid Leukemia (AML) and Myelodysplastic Syndrome (MDS) within One Year after HLA-Matched Unrelated Donor Blood and Marrow Transplantation (DISCOVeRY-BMT Study),” on Saturday, Feb. 25, 6 p.m. at Gaylord Palms Convention Center, Florida Hall C. Dr. Hahn is senior author of that presentation.

The BMT Tandem Meetings are the combined annual meetings of the Center for International Blood & Marrow Transplant Research (CIBMTR) and the American Society for Blood and Marrow Transplantation (ASBMT). Investigators, clinicians, laboratory technicians, clinical research professionals, nurses, pharmacists, administrators, and allied health professional attendees benefit from the full scientific program that addresses the most timely issues in hematopoietic cell transplantation.


The mission of Roswell Park Comprehensive Cancer Center is to understand, prevent and cure cancer. Founded in 1898, Roswell Park is one of the first cancer centers in the country to be named a National Cancer Institute-designated comprehensive cancer center and remains the only facility with this designation in Upstate New York. The Institute is a member of the prestigious National Comprehensive Cancer Network, an alliance of the nation’s leading cancer centers; maintains affiliate sites; and is a partner in national and international collaborative programs. For more information, visit, call 1-800-ROSWELL (1-800-767-9355) or email Follow Roswell Park on Facebook and Twitter.

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Deborah Pettibone, Public Information Specialist