title: False homozygous HLA genotyping results due to copy number neutral loss of heterozygosity in acquired aplastic anaemia.
abstract: The aim of this case report is to draw attention on possible false human leucocyte antigen (HLA) genotyping in acquired aplastic anaemia prior to allogeneic haematopoietic stem cell transplantation. In acquired aplastic anaemia loss of heterozygosity (LOH) of chromosome 6p is known to occur in around 12%. We report false HLA genotyping results due to LOH and a coinciding steep rise in neutrophils following filgrastim stimulation in a patient with very severe aplastic anaemia. At diagnosis we obtained heterozygous results on peripheral blood. Failing to reach a partial response at 6 months with immune-suppressive therapy we repeated HLA genotyping, obtaining homozygous results. Repeated testing confirmed loss of HLA genotype heterozygosity. HLA genotyping on cells obtained by a buccal swab confirmed the previous HLA heterozygosity. A second course of filgrastim at the time of homozygous HLA genotyping resulted in a steep rise in neutrophils. Stopping filgrastim resulted in an equally steep drop.
authors.affiliation: Department of Hematology, Universitair Ziekenhuis Brussels, Brussels, Belgium.
authors.forename: Bert
authors.initials: B
authors.lastname: Heyrman
authors.affiliation: Department of Hematology, Universitair Ziekenhuis Brussels, Brussels, Belgium.
authors.forename: Ann
authors.initials: A
authors.lastname: De Becker
authors.affiliation: Department of Molecular Hematology, Universitair Ziekenhuis Brussels, Brussels, Belgium.
authors.forename: Sonja
authors.initials: S
authors.lastname: Verheyden
authors.affiliation: Department of Molecular Hematology, Universitair Ziekenhuis Brussels, Brussels, Belgium.
authors.forename: Christian
authors.initials: C
authors.lastname: Demanet
mesh_terms: D000741:Anemia, Aplastic / Q000188:drug therapy / Q000235:genetics* / Q000628:therapy; D002896:Chromosomes, Human, Pair 6; D005260:Female; D000069585:Filgrastim / Q000627:therapeutic use; D006680:HLA Antigens / Q000235:genetics*; D018380:Hematopoietic Stem Cell Transplantation; D006720:Homozygote; D006801:Humans; D019656:Loss of Heterozygosity; D008875:Middle Aged
chemical_list: D006680:HLA Antigens; D000069585:Filgrastim