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Pretransplant HLA mistyping in diagnostic sample of a T-ALL patient due to loss of heterozygosity in the major histocompatibility complex
Transplant Immunology ( IF 1.5 ) Pub Date : 2021-09-04 , DOI: 10.1016/j.trim.2021.101463
XiuMin Shi 1 , PeiTong Li 1 , RuiPing Hu 1 , Wei Han 1 , SuJun Gao 1
Affiliation  

Purpose

The degree of HLA compatibility between donor and recipient in hematopoietic stem cell transplantation is critical. In this report, we describe an acute lymphoblastic leukemia case with loss of heterozygosity (LOH) encompassing the entire HLA.

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-B,-C,-DR, and -DP loci. A BS sample demonstrated heterozygosity at the above loci. A subsequent PB sample drawn after count recovery confirmed heterozygosity. The CMA performed on PB samples collected during blast crisis revealed a large terminal region of copy-neutral LOH involving chromosome region 6p25.3p21.31, spanning approximately 33.32 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.



中文翻译:

由于主要组织相容性复合体中杂合性的丧失,在 T-ALL 患者的诊断样本中移植前 HLA 错误分型

目的

在造血干细胞移植中,供体和受体之间的 HLA 相容性程度至关重要。在本报告中,我们描述了一个包含整个 HLA 的杂合性缺失 (LOH) 的急性淋巴细胞白血病病例。

方法

对外周血 (PB) 和口腔拭子 (BS) 进行 HLA 分子分型。使用全基因组平台进行染色体微阵列分析(CMA)。

结果

在爆炸危机期间收集的 PB 样本的分型结果表明,在 -B、-C、-DR 和 -DP 基因座处存在纯合性。BS 样品在上述基因座处表现出杂合性。在计数恢复后抽取的后续 PB 样本证实了杂合性。对爆炸危机期间收集的 PB 样本进行的 CMA 揭示了一个大的拷贝中性 LOH 末端区域,涉及染色体区域 6p25.3p21.31,跨越约 33.32 Mb。计数恢复后收集的样本的 CMA 测定结果未显示 LOH。

结论

HLA 基因位点的 LOH 可能会显着影响供体搜索,从而导致错误地选择纯合供体。我们建议通过使用 BS 样本在任何位点检测到纯合子,或者在达到缓解时从 PB 中检测到纯合子,来确认患有血液系统恶性肿瘤的受者的 HLA 分型。

更新日期:2021-09-08
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