Posttransplant lymphoproliferative disorder (PTLD) is a life-threatening complication of organ transplantation, commonly diagnosed after patients present with nonspecific constitutional symptoms and/or transplant organ dysfunction. In this article, we report a case of a kidney transplant recipient who was found to have highly elevated circulating donor-derived cell-free DNA (dd-cfDNA) levels on routine serum surveillance for allograft rejection, initially without organ dysfunction or evidence of allograft rejection on biopsy. Later, for cause imaging revealed retroperitoneal lymphadenopathy and an allograft hilar mass, which was biopsied to show PTLD/diffuse large B cell lymphoma. The elevated circulating dd-cfDNA levels in this patient prompted targeted next-generation sequencing of the same 266 single-nucleotide polymorphisms used to detect dd-cfDNA on the diffuse large B cell lymphoma, which identified it as derived from the donor. The patient achieved complete remission with retained allograft kidney function after reduced immunosuppression and 6 cycles of immunochemotherapy. This case suggests that dd-cfDNA may be an early detection tool in rare but potentially life-threatening cases of donor-derived malignancy, such as donor-derived PTLD.

中文翻译：

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通过供体来源的游离 DNA 检测供体来源的移植后淋巴组织增生性疾病


移植后淋巴组织增生性疾病 （PTLD） 是器官移植的一种危及生命的并发症，通常在患者出现非特异性全身症状和/或移植器官功能障碍后诊断。在本文中，我们报道了一例肾移植受者的病例，该病例在同种异体移植物排斥反应的常规血清监测中被发现循环供体衍生的游离 DNA （dd-cfDNA） 水平高度升高，最初没有器官功能障碍或活检显示同种异体移植物排斥反应的证据。后来，病因成像显示腹膜后淋巴结肿大和同种异体移植物肺门肿块，活检显示 PTLD/弥漫性大 B 细胞淋巴瘤。该患者循环 dd-cfDNA 水平升高促使对用于检测弥漫性大 B 细胞淋巴瘤上 dd-cfDNA 的相同 266 个单核苷酸多态性进行靶向下一代测序，从而确定其来源于供体。患者在减少免疫抑制和 6 个周期的免疫化疗后实现完全缓解，同种异体移植肾功能保留。本病例表明，dd-cfDNA 可能是罕见但可能危及生命的供体来源的恶性肿瘤病例的早期检测工具，例如供体来源的 PTLD。