Four organ transplant recipients from an organ donor diagnosed with anaplastic pleomorphic xanthoastrocytoma developed fatal malignancies for which the origin could not be confirmed by standard methods. We identified the somatic mutational profiles of the neoplasms using next-generation sequencing technologies and tracked the relationship between the different samples. The data were consistent with the presence of an aggressive clonal entity in the donor and the subsequent proliferation of descendent tumors in each recipient. Deleterious mutations in BRAF, PIK3CA, SDHC, DDR2, and FANCD2, and a chromosomal deletion spanning the CDKN2A/B genes, were shared between the recipients' lesions. In addition to demonstrating that DNA sequencing tracked a donor/recipient cancer transmission, this study established that the genetic profile of a donor tumor and its potential aggressive phenotype could have been determined before transplantation was considered. As the genetic correlates of tumor invasion and metastases become better known, adding genetic profiling by DNA sequencing to the data considered for transplant safety should be considered.

中文翻译：

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中枢神经系统肿瘤的测序表明器官移植中的癌症传播。

来自被诊断患有间变性多形性黄色星形细胞瘤的器官供体的四名器官移植受者发展为致命的恶性肿瘤，其起源无法通过标准方法确认。我们使用下一代测序技术确定了肿瘤的体细胞突变谱，并跟踪了不同样本之间的关系。这些数据与供体中存在侵袭性克隆实体以及随后每个受体中后代肿瘤的增殖一致。BRAF、PIK3CA、SDHC、DDR2和FANCD2 中的有害突变，以及跨越CDKN2A/B的染色体缺失基因，在受体的病变之间共享。除了证明 DNA 测序可以追踪供体/受体的癌症传播之外，该研究还确定供体肿瘤的遗传特征及其潜在的侵袭性表型可以在考虑移植之前确定。随着肿瘤侵袭和转移的遗传相关性越来越为人所知，应考虑通过 DNA 测序将遗传分析添加到考虑移植安全的数据中。