Related Experiment Video
Updated: Aug 23, 2025
09:34
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
33.9K
PIK3CA Mutational Analysis in Patients With Macrodactyly.
Jakob Becker1, Ulrike Camenisch Gross1, Daniel M Weber2
1Department of Pathology and Molecular Pathology, University Hospital Zürich, Zürich, Switzerland.
Summary
PIK3CA testing is crucial for diagnosing PIK3CA-related overgrowth spectrum (PROS) disorders. Formalin-fixed paraffin-embedded tissue is suitable for this genetic analysis, guiding targeted PI3K inhibitor therapy.
Area of Science:
- Genetics
- Oncology
- Pathology
Background:
- Somatic mosaicism in PIK3CA gene causes PIK3CA-related overgrowth spectrum (PROS) disorders.
- PI3K inhibitors offer a promising targeted therapy for severe PROS cases.
- PIK3CA testing is anticipated to increase in clinical relevance.
Purpose of the Study:
- To investigate the diagnostic utility of PIK3CA mutational analysis in PROS patients.
- To evaluate the suitability of formalin-fixed paraffin-embedded (FFPE) tissue for PIK3CA testing in PROS.
Main Methods:
- Retrospective review of clinical data and histopathological findings from 14 PROS patients.
- Mutational analysis of PIK3CA gene performed on FFPE tissue samples.
Main Results:
- The study included 14 PROS patients, with macrodactyly being the most common presentation.
- Histological examination revealed nonspecific findings in affected adipose tissue.
- PIK3CA mutations were successfully detected in all analyzed FFPE specimens.
Conclusions:
- Histology alone is often insufficient for diagnosing PROS; mutational analysis is key.
- FFPE tissue is a viable source for PIK3CA testing in PROS.
- Accurate PIK3CA testing supports the foundation for targeted PI3K inhibitor therapy in PROS.
Keywords:
PIK3CAPIK3CA-related overgrowth spectrumlipomatosismacrodactylymolecular pathologysegmental overgrowthtargeted therapy
