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Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues
Published on: October 20, 2019
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Hydatidiform Moles: Genetic Basis and Precision Diagnosis
Pei Hui1, Natalia Buza1, Kathleen M Murphy2
1Department of Pathology, Yale University School of Medicine, New Haven, Connecticut 06510;
Annual Review of Pathology
|January 31, 2017
Summary
Accurate hydatidiform mole diagnosis is challenging due to variable morphology. Combining histology with p57 expression analysis and DNA genotyping offers improved diagnostic accuracy for these abnormal placental tissues.
Area of Science:
- Reproductive biology
- Human genetics
- Pathology
Background:
- Hydatidiform moles are abnormal placental villi with diverse genetic profiles and morphology, complicating diagnosis.
- Paternal genome overrepresentation is key in sporadic moles, altering imprinting gene expression.
- Familial biparental moles share imprinting alterations, suggesting a common pathogenic pathway.
Purpose of the Study:
- To address the diagnostic challenges of hydatidiform moles.
- To highlight the need for advanced diagnostic modalities beyond routine morphology.
- To present improved methods for accurate hydatidiform mole classification.
Main Methods:
- Analysis of p57 expression using immunohistochemistry.
- DNA genotyping via polymerase chain reaction (PCR).
- Algorithmic approaches integrating histology with ancillary techniques.
Main Results:
- Morphologic assessment alone shows significant interobserver variability.
- Immunohistochemistry for p57 and DNA genotyping are powerful diagnostic tools.
- Combined approaches enhance diagnostic accuracy for hydatidiform moles.
Conclusions:
- Accurate hydatidiform mole classification requires more than just morphology.
- p57 expression analysis and DNA genotyping are crucial ancillary methods.
- Integrated diagnostic strategies represent current best practice for hydatidiform moles.
