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A practical guide to chimerism analysis: Review of the literature and testing practices worldwide
Amanda G Blouin1, Fei Ye1, Jenifer Williams2
1Department of Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, United States.
Insights
Chimerism testing guidelines are lacking for hematopoietic cell transplantation (HCT) patients. This review offers a practical guide based on a survey of accredited labs and literature, addressing testing performance and interpretation.
Area of Science:
- Histocompatibility and Immunogenetics
- Molecular Diagnostics
- Hematopoietic Cell Transplantation
Background:
- Chimerism analysis is crucial for monitoring engraftment post-hematopoietic cell transplantation (HCT).
- Current practices lack standardized guidelines, leading to heterogeneity in testing.
- Advances in next-generation sequencing (NGS) offer improved sensitivity and cost-effectiveness.
Purpose of the Study:
- To provide a practical guide for chimerism testing in HCT patients.
- To address key aspects of performing and interpreting chimerism test results.
- To establish consensus on best practices in the absence of formal guidelines.
Main Methods:
- Survey of accredited histocompatibility and immunogenetics laboratories (ASHI/EFI).
- Literature review of pertinent studies on chimerism analysis.
- Expert interpretation of survey data and existing literature.
Main Results:
- Significant heterogeneity observed in chimerism testing practices among laboratories.
- Consistent practice of monitoring engraftment within 30 days post-HCT.
- Identified clinical indications include early relapse detection and HLA-loss relapse.
Conclusions:
- Chimerism testing practices vary widely, necessitating standardized guidelines.
- Early engraftment monitoring is a common practice.
- Chimerism analysis plays a vital role in detecting relapse and guiding HCT patient management.
Background And Purpose:
Currently there are no widely accepted guidelines for chimerism analysis testing in hematopoietic cell transplantation (HCT) patients. The objective of this review is to provide a practical guide to address key aspects of performing and utilizing chimerism testing results. In developing this guide, we conducted a survey of testing practices among laboratories that are accredited for performing engraftment monitoring/chimerism analysis by either the American Society for Histocompatibility & Immunogenetics (ASHI) and/or the European Federation of Immunogenetics (EFI). We interpreted the survey results in the light of pertinent literature as well as the experience in the laboratories of the authors.
Recent Developments:
In recent years there has been significant advances in high throughput molecular methods such as next generation sequencing (NGS) as well as growing access to these technologies in histocompatibility and immunogenetics laboratories. These methods have the potential to improve the performance of chimerism testing in terms of sensitivity, availability of informative genetic markers that distinguish donors from recipients as well as cost.
Summary:
The results of the survey revealed a great deal of heterogeneity in chimerism testing practices among participating laboratories. The most consistent response indicated monitoring of engraftment within the first 30 days. These responses are reflective of published literature. Additional clinical indications included early detection of impending relapse as well as identification of cases of HLA-loss relapse.
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