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Pretransplant HLA mistyping in diagnostic samples of acute myeloid leukemia patients due to acquired uniparental disomy

Contributors

Dubois, V; Sloan-Béna, F; Cesbron, A; Hepkema, B G; Gagne, K; Gimelli, S; Heim, D; Tichelli, A; Delaunay, J; Drouet, M; Jendly, Sabrina; Villard, Jean; Tiercy, Jean-Marie

Published in

Leukemia, vol. 26, no. 9, p. 2079-2085

Publication date

2012

Abstract

Although acquired uniparental disomy (aUPD) has been reported in relapse acute myeloid leukemia (AML), pretransplant aUPD involving chromosome 6 is poorly documented. Such events could be of interest because loss of heterozygosity (LOH) resulting from aUPD in leukemic cells may lead to erroneous results if HLA typing for hematopoietic stem cell donor searches is performed on blood samples drawn during blastic crisis. We report here six AML patients whose HLA typing was performed on DNA extracted from peripheral blood obtained at diagnosis. We observed LOH involving the entire HLA region (three patients), HLA-A, B, C (two patients) and HLA-A only (one patient). An array-comparative genomic hybridization showed that copy number was neutral for all loci, thus revealing partial aUPD of chromosome 6p21. When HLA typing was performed on remission blood samples both haplotypes were detected. A 3-4% LOH incidence was estimated in AML patients with high blast counts. Based on DNA mixing experiments, we determined by PCR sequence-specific oligonucleotide hybridization on microbeads arrays a detection threshold for HLA-A, B, DRB1 heterozygosity in blood samples with <80% blasts. Because aUPD may be partial, any homozygous HLA result should be confirmed by a second typing performed on buccal swabs or on blood samples from the patient in remission.

Keywords

  • Adult
  • Comparative Genomic Hybridization
  • Diagnosis, Differential
  • Female
  • HLA Antigens/immunology
  • Histocompatibility Testing
  • Humans
  • Leukemia, Myeloid, Acute/diagnosis/genetics/immunology
  • Male
  • Middle Aged
  • Uniparental Disomy/genetics

UNIGE affiliation entities

UNIGE research groups

Citation (ISO format)

DUBOIS, V et al. Pretransplant HLA mistyping in diagnostic samples of acute myeloid leukemia patients due to acquired uniparental disomy. In: Leukemia, 2012, vol. 26, n° 9, p. 2079–2085. doi: 10.1038/leu.2012.68

Main files (1)

Article (Published version)

Identifiers

Journal ISSN

0887-6924
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834downloads

Technical informations

Creation

12/07/2013 08:43:00

First validation

12/07/2013 08:43:00

Update

14/11/2024 14:55:32

Status update

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