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False homozygous HLA genotyping results due to copy number neutral loss of heterozygosity in acquired aplastic anaemia. / Heyrman, Bert; De Becker, Ann; Verheyden, Sonja; Demanet, Christian.

In: BMJ Case Reports, Vol. 2017, 217867, 2017.

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@article{5474ea16568b4f4e9bda14e350a46bf6,
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.",
author = "Bert Heyrman and {De Becker}, Ann and Sonja Verheyden and Christian Demanet",
note = "2017 BMJ Publishing Group Ltd.",
year = "2017",
doi = "10.1136/bcr-2016-217867",
language = "English",
volume = "2017",
journal = "BMJ Case Reports",
issn = "1757-790X",
publisher = "BMJ Publishing Group",

}

RIS

TY - JOUR

T1 - False homozygous HLA genotyping results due to copy number neutral loss of heterozygosity in acquired aplastic anaemia

AU - Heyrman, Bert

AU - De Becker, Ann

AU - Verheyden, Sonja

AU - Demanet, Christian

N1 - 2017 BMJ Publishing Group Ltd.

PY - 2017

Y1 - 2017

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=85014543500&partnerID=8YFLogxK

U2 - 10.1136/bcr-2016-217867

DO - 10.1136/bcr-2016-217867

M3 - Article

C2 - 28254831

VL - 2017

JO - BMJ Case Reports

JF - BMJ Case Reports

SN - 1757-790X

M1 - 217867

ER -

ID: 30275761