TY - JOUR T1 - Sequencing of a central nervous system tumor demonstrates cancer transmission in an organ transplant JF - Life Science Alliance JO - Life Sci. Alliance DO - 10.26508/lsa.202000941 VL - 4 IS - 9 SP - e202000941 AU - Marie-Claude Gingras AU - Aniko Sabo AU - Maria Cardenas AU - Abbas Rana AU - Sadhna Dhingra AU - Qingchang Meng AU - Jianhong Hu AU - Donna M Muzny AU - Harshavardhan Doddapaneni AU - Lesette Perez AU - Viktoriya Korchina AU - Caitlin Nessner AU - Xiuping Liu AU - Hsu Chao AU - John Goss AU - Richard A Gibbs Y1 - 2021/09/01 UR - https://www.life-science-alliance.org/content/4/9/e202000941.abstract N2 - 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. ER -