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Frequent PIK3CA activating mutations in nipple adenomas
Jau-Yu Liau1,2, Yi-Hsuan Lee1, Jia-Huei Tsai1,2
1Department of Pathology, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.
Activating PIK3CA mutations are common in nipple adenomas (NA), similar to other benign breast lesions. BRAF mutations in NA suggest a distinct disease pathway.
Area of Science:
- Oncology
- Genetics
- Pathology
Background:
- Nipple adenoma (NA) is a rare benign epithelial tumor.
- NA exhibits adenosis-like and usual ductal hyperplasia-like patterns.
- Similar breast lesions often harbor PIK3CA, AKT1, or RAS mutations.
Purpose of the Study:
- Analyze PIK3CA, AKT1, RAS, and BRAF mutation status in NAs.
- Correlate mutation status with histological features.
Main Methods:
- Sanger sequencing was used for mutation analysis.
- 24 nipple adenoma (NA) samples were analyzed.
Main Results:
- Activating PIK3CA mutations were found in 53% of adenosis-like NAs and 44% of usual ductal hyperplasia-like NAs.
- Overall, 50% of NAs had PIK3CA mutations, and 58% had PIK3CA, RAS, or BRAF mutations.
- BRAF V600E mutations were identified in two adenosis-like NAs.
Conclusions:
- Activating PIK3CA mutations are frequent in NAs, mirroring other benign proliferative breast lesions.
- Concurrent PIK3CA and KRAS mutations can occur.
- BRAF mutations in NA may indicate a unique pathogenic mechanism.
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