False homozygosity results in HLA genotyping due to loss of chromosome 6 in a patient with acute lymphoblastic leukemia.

Korean Journal of Laboratory Medicine Pub Date : 2011-10-01 Epub Date: 2011-10-03 DOI:10.3343/kjlm.2011.31.4.302
Hyewon Park, Jungwon Hyun, Sung Sup Park, Myoung Hee Park, Eun Young Song
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引用次数: 9

Abstract

Loss of heterozygosity (LOH) in chromosome 6p has been reported in a number of tumors and some hematologic malignancies, including ALL. LOH in chromosome 6p, on which the HLA genes are located, can give rise to false homozygosity results in HLA genotyping of patients with hematologic malignancies. Here we report false homozygosity results in HLA genotyping due to the loss of whole chromosome 6 in the neoplastic cells of a patient with ALL. A 33-yr-old Korean female patient was admitted for the evaluation of leukocytosis detected during a workup for headache. Her initial white blood cell count was 336.9×10(9)/L with 84% of blasts in the differential count. Precursor-B lymphoblastic leukemia was diagnosed from a subsequent bone marrow study. HLA high-resolution genotyping of the patient was requested at the time of diagnosis for possible hematopoietic stem cell transplantation. Homozygosity results (A(*)02:01, B(*)54:01, C(*)08:01, DQB1(*)04:01) were obtained, except for the DRB1 locus (DRB1(*)04:05, DRB1(*)11:01), in sequence-based typing. Conventional karyotyping of bone marrow metaphase cells revealed chromosomal abnormalities, with loss of multiple chromosomes including chromosome 6, and reduplication of the remaining chromosomes: 29,X,+X,+8,inv(9)(p11q13),+10,+14,+18,+21[15]/58,idemX2[3]/46,XX,inv(9)[2]. LOH at the HLA region was suspected and HLA genotyping was repeated with the peripheral blood in remission state after induction chemotherapy. All 5 HLA loci were typed as heterozygous (A(*)02:01, A(*)02:06, B(*)40:01, B(*)54:01, C(*)03:04, C(*)08:01, DRB1(*)04:05, DRB1(*)11:01, DQB1(*)03:01, DQB1(*)04:01). To avoid false HLA typing results in patients with hematologic malignancies, clinicians, as well as laboratory personnel, need to be aware of such problems and take appropriate precautions.

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急性淋巴细胞白血病患者6号染色体缺失导致HLA基因分型错误。
6p染色体杂合性缺失(LOH)在许多肿瘤和一些血液系统恶性肿瘤中都有报道,包括ALL。HLA基因所在的6p染色体上的LOH可导致血液病恶性患者HLA基因分型出现假纯合结果。在这里,我们报告了由于在ALL患者的肿瘤细胞中丢失了整个6号染色体而导致HLA基因分型的假纯合结果。一位33岁的韩国女性患者因头痛检查中发现白细胞增多而入院。她的初始白细胞计数为336.9×10(9)/L,差异计数中84%为原细胞。从随后的骨髓研究中诊断出前体b淋巴母细胞白血病。在诊断可能的造血干细胞移植时,要求患者进行HLA高分辨率基因分型。除DRB1位点(DRB1(*)04:05, DRB1(*)11:01)外,序列分型结果为A(*)02:01, B(*)54:01, C(*)08:01, DQB1(*)04:01。骨髓中期细胞常规核型显示染色体异常,包括6号染色体在内的多条染色体缺失,剩余染色体29、X、+X、+8、inv(9)(p11q13)、+10、+14、+18、+21[15]/58、idemX2[3]/46、XX、inv(9)[2]重复。在诱导化疗后外周血处于缓解状态时,怀疑HLA区存在LOH,重复HLA基因分型。所有5 HLA位点类型为杂合的((*)02:01,(*)02:06,B (*) 40:01, B (*) 54:01, C (*) 03:04, C (*) 08:01 DRB1 (*) 04:05 DRB1 (*) 11:01, DQB1 (*) 03:01, DQB1(*) 04:01)。为了避免血液恶性肿瘤患者出现错误的HLA分型结果,临床医生以及实验室人员需要意识到这些问题并采取适当的预防措施。
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来源期刊
Korean Journal of Laboratory Medicine
Korean Journal of Laboratory Medicine 医学-医学实验技术
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0.00%
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1
审稿时长
>12 weeks
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