Pretransplant HLA typing revealed loss of heterozygosity in the major histocompatibility complex in a patient with acute myeloid leukemia

Andrew L. Lobashevsky, Mary Krueger-Sersen, Rebecca M. Britton, Courtney A. Littrell, Susmita Singh, Connie P. Cui, Zahra Kashi, Russ K. Martin, Amy M. Breman, Gail H. Vance, Sherif S. Farag

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


Introduction: Chromosomal abnormalities are frequent events in hematological malignancies. The degree of HLA compatibility between donor and recipient in hematopoietic stem cell transplantation is critical. Purpose of the study: In this report, we describe an acute myeloid leukemia case with loss of heterozygosity (LOH) encompassing the entire HLA. Materials and methods: HLA molecular typing was performed on peripheral blood (PB) and buccal swabs (BS). Chromosomal microarray analysis (CMA) was performed using a whole genome platform. Results: Typing results on PB sample collected during blast crisis demonstrated homozygosity at the -A, -B, -C, -DR, and -DQ loci. A BS sample demonstrated heterozygosity at all loci. A subsequent PB sample drawn after count recovery confirmed heterozygosity. The CMA performed on PB samples collected during and after blast crisis revealed a large terminal region of copy-neutral LOH involving chromosome region 6p25.3p21.31, spanning approximately 35.9 Mb. The results of the CMA assay on sample collected after count recovery did not demonstrate LOH. Conclusions: LOH at the HLA gene locus may significantly influence the donor search resulting in mistakenly choosing homozygous donors. We recommend confirming the HLA typing of recipients with hematological malignancies when homozygosity is detected at any locus by using BS samples, or alternatively from PB when remission is achieved.

Original languageEnglish (US)
Pages (from-to)257-262
Number of pages6
JournalHuman Immunology
Issue number4
StatePublished - Apr 2019


  • HLA
  • Hematological malignancies
  • Hematopoietic stem cells
  • Loss of heterozygosity
  • Microarray analysis

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology

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