Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
Department of Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
Ann Transplant. 2023 Feb 25;28:e938287. doi: 10.12659/AOT.938287.
BACKGROUND Graft-versus-host disease (GVHD) after liver transplantation (LT) is a rare but fatal complication. GVHD diagnosis is usually based on clinical symptoms and pathologic confirmation. However, it is often misdiagnosed due to its non-specific symptoms. Here, we report the detection of donor-cell chimerism using peripheral blood (PB) donor-derived deoxyribonucleic acid (ddDNA) for 3 cases with suspected GVHD after LT (GVHD-LT) through real-time quantitative polymerase chain reaction (qPCR) assay targeting 39 insertions and/or deletions of chromosomes. MATERIAL AND METHODS The qPCR assay for detecting donor-cell chimerism was performed for 3 post-LT patients with suspected GVHD using KMRtype® and KMRtrack® assays (GenDx, Netherlands). The mean recipient/donor-cell fraction of informative markers unique to each recipient or donor was calculated. RESULTS In Case 1, who received living donor LT (LDLT) from his daughter, initial sign was diarrhea at post-operative day (POD) #23. Case 2 received unrelated deceased donor LT and initial sign was cytopenia at POD #29. Case 3 received LDLT from her son and GVHD associated cytopenia was developed at POD #80. Average PB ddDNA fractions in post-transplant samples of cases 1, 2, and 3 were 39.68%, 78.38%, and 4.76%, respectively. Despite an active treatment including steroid and tumor necrosis factor-alpha inhibitor, 2 patients (cases 1 and 2) died due to multiple organ failures. CONCLUSIONS Early detection of donor-cell chimerism may help halt fatal progression of GVHD-LT. A qPCR test targeting INDEL of chromosomes would be a helpful procedure for timely diagnosis of GVHD.
肝移植(LT)后移植物抗宿主病(GVHD)是一种罕见但致命的并发症。GVHD 的诊断通常基于临床症状和病理证实。然而,由于其非特异性症状,常常误诊。在这里,我们报告了通过实时定量聚合酶链反应(qPCR)检测供体细胞嵌合使用外周血(PB)供体来源的脱氧核糖核酸(ddDNA),对 3 例 LT 后疑似 GVHD(GVHD-LT)患者进行 39 个染色体插入和/或缺失的检测。
使用 KMRtype®和 KMRtrack®检测(GenDx,荷兰)对 3 例 LT 后疑似 GVHD 的患者进行供体细胞嵌合检测的 qPCR 检测。计算每个受者或供者特有的信息标记的受者/供体细胞分数。
在第 1 例中,他从女儿那里接受了活体供体 LT(LDLT),最初的症状是术后第 23 天(POD)腹泻。第 2 例接受了无关的已故供体 LT,最初的症状是 POD #29 时的细胞减少症。第 3 例从她的儿子那里接受了 LDLT,并在 POD #80 时出现了与 GVHD 相关的细胞减少症。病例 1、2 和 3 的移植后样本中的平均 PB ddDNA 分数分别为 39.68%、78.38%和 4.76%。尽管进行了积极的治疗,包括类固醇和肿瘤坏死因子-α抑制剂,但 2 例患者(病例 1 和 2)因多器官衰竭而死亡。
早期检测供体细胞嵌合可能有助于阻止 GVHD-LT 的致命进展。针对染色体 INDEL 的 qPCR 检测将是及时诊断 GVHD 的有用程序。