Sequencing of a central nervous system tumor demonstrates cancer transmission in an organ transplant.

TitleSequencing of a central nervous system tumor demonstrates cancer transmission in an organ transplant.
Publication TypeJournal Article
Year of Publication2021
AuthorsGingras, M-C, Sabo, A, Cardenas, M, Rana, A, Dhingra, S, Meng, Q, Hu, J, Muzny, DM, Doddapaneni, H, Perez, L, Korchina, V, Nessner, C, Liu, X, Chao, H, Goss, J, Gibbs, RA
JournalLife Sci Alliance
Date Published2021 Sep
KeywordsAdolescent, Adult, Biomarkers, Tumor, Biopsy, Central Nervous System Neoplasms, DNA Mutational Analysis, Exome Sequencing, Female, Humans, INDEL Mutation, Male, Middle Aged, Mutation, Organ Transplantation, Prognosis, Sequence Analysis, DNA, Tissue Donors, Transplant Recipients, Transplants, Young Adult

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 , , , , and , and a chromosomal deletion spanning the 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.

Alternate JournalLife Sci Alliance
PubMed ID34301805
PubMed Central IDPMC8321656
Grant ListUM1 HG008898 / HG / NHGRI NIH HHS / United States

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