Molecular Monitoring of Allogeneic Stem Cell Transplantation in Fanconi Anemia

Background: Allogeneic hematopoietic stem cell transplantation (HSCT) is the treatment of choice in patients with Fanconi anemia (FA). The aim of our study is to evaluate the impact and benefits of allogenic matched donor HSCT in a case of a 12 year-old girl with FA, who displayed good clinical evolution following 2 months post -transplantation. Methods: In the pre-transplant phase, reference blood samples from the donor and recipient were collected on EDTA. The DNA from blood samples was extracted using an automated Maxwell (R) 48 RSC instrument (Promega, USA) with the Maxwell (R) RSC Whole blood DNA kit (Promega, USA). For DNA quantification, the PowerQuant System kit (Promega, USA) was used with the ABI 7500 Real-time PCR system (Applied Biosystems, USA). The amplification of the short tandem repeat markers was performed using the 24plex Investigator QS kit (Qiagen, Germany) on a ProFlex PCR System. Furthermore, the PCR products were separated and detected on an ABI 3500 Genetic Analyzer (Applied Biosytems, USA). Results: Thirty days post transplantation, a complete chimerism (CC) was achieved with a full replacement by donor derived hematopoietic cells. Sixty days post transplantation, the CC status was maintained with improvement of hematological findings.. Conclusions: In FA, chimerism monitoring after HSCT provides useful information regarding engraftment or possibility of post-transplantation complications such as graft versus host disease. (Clin. Lab. 2022;68:xx-xx DOI: 10.7754/Clin.Lab.2021.210902)