Park Yun Mi, Kwon Gye Cheol, Kim Seon Young
Department of Laboratory Medicine, Chungnam National University College of Medicine, Chungnam National University Hospital, Daejeon, Korea.
Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Korea.
Ann Lab Med. 2025 Sep 1;45(5):539-544. doi: 10.3343/alm.2024.0573. Epub 2025 Apr 28.
Serologic ABO typing might be hampered in some patients with hematologic malignancies. We performed genotyping using next-generation sequencing as part of a routine hematologic malignancy gene panel to determine the ABO blood type of patients with hematologic malignancies. Targeted sequencing of seven gene exons was performed within a hematologic malignancy gene panel for 520 patients diagnosed with various hematologic malignancies. The distribution of predicted ABO blood phenotypes determined through genotyping was as follows: 33.3% A, 27.3% B, 26.7% O, and 12.7% AB. No significant associations were identified between allele distributions and specific hematologic malignancy diagnoses. We compared the phenotypes predicted using genotyping with serological ABO testing results in 502 samples where serological data were available. All genotyping-based phenotypes were accurate, with 99.8% (501/502) of initial serological results aligning with the true phenotypes. Unusual serological results were observed in 21 samples (4.2%). The percentages of recipient cells containing allele variants indicated chimerism in relapsed patients who had undergone ABO-mismatched transplantation. Thus, incorporating genotyping into the hematology gene panel provides valuable information offering a cost-effective approach to address challenges in blood typing and post-transplant care.
血清学ABO血型分型在一些血液系统恶性肿瘤患者中可能会受到阻碍。我们使用新一代测序技术进行基因分型，作为常规血液系统恶性肿瘤基因检测的一部分，以确定血液系统恶性肿瘤患者的ABO血型。在一个血液系统恶性肿瘤基因检测中，对520例诊断为各种血液系统恶性肿瘤的患者进行了7个基因外显子的靶向测序。通过基因分型确定的预测ABO血型表型分布如下：A型33.3%，B型27.3%，O型26.7%，AB型12.7%。未发现等位基因分布与特定血液系统恶性肿瘤诊断之间存在显著关联。我们将502份有血清学数据的样本中基因分型预测的表型与血清学ABO检测结果进行了比较。所有基于基因分型的表型都是准确的，99.8%（501/502）的初始血清学结果与真实表型一致。在21份样本（4.2%）中观察到异常的血清学结果。含有等位基因变体的受者细胞百分比表明，接受ABO血型不匹配移植的复发患者存在嵌合现象。因此，将基因分型纳入血液学基因检测可提供有价值的信息，为解决血型分型和移植后护理中的挑战提供一种经济有效的方法。
