Applications of Next-Generation Sequencing to Blood and Marrow Transplantation

Biol Blood Marrow Transplant. 2012 Jan;18(1 Suppl):S151-60. doi: 10.1016/j.bbmt.2011.11.011.


Since the advent of next-generation sequencing (NGS) in 2005, there has been an explosion of published studies employing the technology to tackle previously intractable questions in many disparate biological fields. This has been coupled with technology development that has occurred at a remarkable pace. This review discusses the potential impact of this new technology on the field of blood and marrow stem cell transplantation. Hematologic malignancies have been among the forefront of those cancers whose genomes have been the subject of NGS. Hence, these studies have opened novel areas of biology that can be exploited for prognostic, diagnostic, and therapeutic means. Because of the unprecedented depth, resolution and accuracy achievable by NGS, this technology is well-suited for providing detailed information on the diversity of receptors that govern antigen recognition; this approach has the potential to contribute important insights into understanding the biologic effects of transplantation. Finally, the ability to perform comprehensive tumor sequencing provides a systematic approach to the discovery of genetic alterations that can encode peptides with restricted tumor expression, and hence serve as potential target antigens of graft-versus-leukemia responses. Altogether, this increasingly affordable technology will undoubtedly impact the future practice and care of patients with hematologic malignancies.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Bone Marrow Transplantation*
  • DNA, Neoplasm / genetics*
  • Gene Expression Regulation, Neoplastic / genetics
  • Graft vs Leukemia Effect / genetics
  • Hematologic Neoplasms / diagnosis
  • Hematologic Neoplasms / genetics*
  • Hematologic Neoplasms / metabolism
  • Hematologic Neoplasms / therapy*
  • Hematopoietic Stem Cell Transplantation*
  • Humans
  • Prognosis
  • Sequence Analysis, DNA / methods*
  • Sequence Analysis, DNA / trends


  • DNA, Neoplasm