Identity determination in diagnostic surgical pathology

Area of Science:

• Molecular Pathology
• Genetics
• Surgical Pathology

Background:

• Historically, microsatellite repeat analysis dominated surgical pathology specimen identity determination.
• Emerging techniques like single nucleotide polymorphism (SNP) analysis and next-generation sequencing (NGS) offer comparable or superior utility.
• Mitochondrial DNA sequencing remains crucial for limited or degraded samples.

Purpose of the Study:

• To review current and emerging methods for specimen identity determination in surgical pathology.
• To highlight the diagnostic and provenance applications of these molecular techniques.
• To explore the broader utility of identity determination methods beyond basic tissue tracking.

Main Methods:

• Analysis of repetitive DNA sequences (microsatellites).
• Single nucleotide polymorphism (SNP) analysis.
• Next-generation sequencing (NGS) of gene panels.
• Mitochondrial DNA sequencing.

Main Results:

• Advanced DNA analyses (SNP, NGS) provide powerful tools for specimen identity and provenance.
• These methods assist in resolving diagnostic ambiguities, differentiating tumor types, and diagnosing gestational conditions.
• Applications extend to transplant recipient safety, bone marrow engraftment monitoring, and chimerism evaluation.

Conclusions:

• Modern molecular techniques significantly enhance specimen identity determination in surgical pathology.
• These methods offer critical ancillary diagnostic information and have diverse clinical applications.
• The utility of DNA-based identity analysis extends far beyond simple specimen tracking.