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Highly sensitive DNA typing for detecting tumors transmitted by transplantation
C Schmitt1, K Ciré, S Schattenkirchner
1Institute of Forensic Medicine, University of Cologne, Köln, Germany.
Summary
Forensic DNA typing using short tandem repeats (STRs) identified metastatic melanoma in two kidney transplant recipients. The analysis confirmed the tumors originated from the donor, not the recipients, highlighting transmission risks.
Area of Science:
- Forensic Science
- Oncology
- Transplant Immunology
Background:
- Variable number of tandem repeats (VNTRs) and short tandem repeats (STRs) are DNA markers used in forensic identification.
- Polymerase chain reaction (PCR) amplification enables DNA typing from minute or degraded samples, crucial in forensic investigations.
- Kidney transplantation carries risks, including the potential transmission of diseases from donor to recipient.
Observation:
- Two kidney transplant recipients developed metastatic malignant melanoma of unknown origin months post-transplantation.
- Available samples included fresh metastatic tissue and blood from one recipient, donor DNA, and paraffin-embedded tissue from the second recipient.
- DNA analysis of nine polymorphic loci was performed to determine the tumor's origin.
Findings:
- The melanoma in both recipients was genetically distinct from the recipient's DNA.
- Tumor DNA profiles consistently matched the donor's DNA profile.
- A single incident of allele loss was observed and attributed to a mutation event.
Implications:
- This study demonstrates the successful application of forensic DNA typing in clarifying the origin of post-transplant malignancies.
- The findings indicate that the melanoma was transmitted from the donor to both recipients via renal transplantation.
- This highlights the importance of donor screening and the potential for occult malignancies in organ transplantation.