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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.
PMID
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Authors

Mayor MeshTerms
Keywords
Journal Title bmj case reports
Publication Year Start




PMID- 28254831
OWN - NLM
STAT- In-Process
DA  - 20170303
LR  - 20170303
IS  - 1757-790X (Electronic)
IS  - 1757-790X (Linking)
VI  - 2017
DP  - 2017 Mar 02
TI  - False homozygous HLA genotyping results due to copy number neutral loss of
      heterozygosity in acquired aplastic anaemia.
LID - bcr2016217867 [pii]
LID - 10.1136/bcr-2016-217867 [doi]
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.
CI  - 2017 BMJ Publishing Group Ltd.
FAU - Heyrman, Bert
AU  - Heyrman B
AD  - Department of Hematology, Universitair Ziekenhuis Brussels, Brussels, Belgium.
FAU - De Becker, Ann
AU  - De Becker A
AD  - Department of Hematology, Universitair Ziekenhuis Brussels, Brussels, Belgium.
FAU - Verheyden, Sonja
AU  - Verheyden S
AD  - Department of Molecular Hematology, Universitair Ziekenhuis Brussels, Brussels,
      Belgium.
FAU - Demanet, Christian
AU  - Demanet C
AD  - Department of Molecular Hematology, Universitair Ziekenhuis Brussels, Brussels,
      Belgium.
LA  - eng
PT  - Journal Article
DEP - 20170302
PL  - England
TA  - BMJ Case Rep
JT  - BMJ case reports
JID - 101526291
EDAT- 2017/03/04 06:00
MHDA- 2017/03/04 06:00
CRDT- 2017/03/04 06:00
AID - bcr-2016-217867 [pii]
AID - 10.1136/bcr-2016-217867 [doi]
PST - epublish
SO  - BMJ Case Rep. 2017 Mar 2;2017. pii: bcr2016217867. doi: 10.1136/bcr-2016-217867.

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