Microsatellite instability analysis, new use in donation and transplantation
Aroa Gómez Brey1, Javier Hernández Losa4, Elisabeth Navas Moya1, Adriana Sánchez Gines1, Maria Teresa Salcedo Allende3, Juliana Esperalba Esquerra2, Aurora Navarro Cantullera5, Alberto Sandiumenge Camps1.
1Coordination of Programs of Donation and Transplantation, Vall d'Hebron University Hospital, Barcelona, Spain; 2Microbiology Department, Vall d'Hebron University Hospital, Barcelona, Spain; 3Pathology Department, Vall d'Hebron University Hospital, Barcelona, Spain; 4Molecular Biology Laboratory, Pathology Department, Vall d'Hebron University Hospital, Barcelona, Spain; 5Medical Coordination of Tissue Donation, Barcelona Tissue Bank, Barcelona, Spain
Introduction: Organ donation process should aim to maximize organ availability while minimizing risks of disease transmission. Zero risk does not exist and adverse reactions are observed in organ recipients. Quality and safety standards prevent common errors during donation and transplantation process, avoiding potential disease transmissions.
Our goal is to validate a genomic technique of microsatellite instability analysis (MSI) for the imputability investigation of donor-recipient transmission.
Method: We included 6 cases with suspicious neoplasic findings in 7 recipients from January 2019 to June 2025. We compared deoxyribonucleic acid (DNA) from tumor’s samples with recipient’s and donor’s samples.
The MSI Analysis System kit (R)(Promega) was used. It identifies functional evidence of genomic instability (loss of DNA mismatch repair system) associated with hereditary cancers.
Following the kit instructions, multiplex fluorescent polymerase chain reaction (PCR), followed by fragment separation and detection using capillary electrophoresis, was performed to detect genomic instability of the following microsatellites: BAT25, BAT26, NR-21, NR-24 and MONO-27. Additionally, two highly polymorphic satellites PENTA-C and PENTA-D included in the kit were compared in order to compare profiles between selected samples.
Results: We analyzed DNA from 7 recipients who received organs from 6 different donors. Donors’ and recipients’ characteristics are summarized in Table 1 and Table2.
After comparative microsatellite analysis between the different samples, the tumor DNA was matched to the donor DNA in 5 cases (confirming the malignancy donor-recipient transmission) and not in 1 case with 2 recipients (ruling out the malignancy donor-recipient transmission).
Conclusions: MSI analysis is a valid technique to determine the imputability of donor-recipient malignancy transmission.
The investigation of donor-recipient disease transmission is important not only for the study and treatment of the affected recipient, but also for the safety and follow-up of other recipients.
[1] organ donation
[2] transmission disease
[3] malignancy