Molecular pathology in anatomic pathology practice: a review of basic principles

Area of Science:

• Pathology
• Molecular Biology
• Genetics

Background:

• Molecular testing in pathology originated with polymerase chain reaction (PCR) assays.
• Initial applications focused on inherited diseases and hematologic malignancy clonality.
• The field has advanced to encompass broad molecular diagnostics across pathology disciplines.

Purpose of the Study:

• To review fundamental molecular pathology concepts.
• To highlight the challenges of tissue-based molecular testing in anatomic pathology.
• To discuss the integration of DNA diagnosis with traditional tissue diagnosis.

Main Methods:

• Literature review of molecular pathology evolution.
• Analysis of current applications in surgical pathology and cytopathology.
• Discussion of challenges in tissue-based molecular assays.

Main Results:

• Molecular diagnostics now impacts nearly all areas of anatomic pathology.
• Molecular testing is increasingly integrated into surgical pathology and cytopathology.
• Significant challenges exist at the interface of tissue and DNA-based diagnoses.

Conclusions:

• Molecular anatomic pathology is a developing field with evolving standard assays.
• Gaining clinical value from tissue molecular testing reveals unique diagnostic challenges.
• Understanding these challenges is crucial for advancing molecular pathology.