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Subareolar sclerosing ductal hyperplasia shows PI3K pathway alterations
Baris Boyraz1, Brian Robinson1, Neal Lindeman1
1Department of Pathology and Laboratory Medicine, Weill Cornell Medicine/New York Presbyterian Hospital, New York, NY, USA.
Histopathology
|January 31, 2025
Summary
Subareolar sclerosing ductal hyperplasia (SSDH) exhibits PI3K pathway alterations, similar to other breast lesions. This genetic finding helps explain the rare association of SSDH with atypical hyperplasia and breast cancer.
Area of Science:
- Oncology
- Genetics
- Breast Pathology
Background:
- Subareolar sclerosing ductal hyperplasia (SSDH) is a rare lesion first described in 1987.
- Limited research exists on SSDH, with no prior genetic investigations.
Purpose of the Study:
- To conduct the first genetic analysis of Subareolar Sclerosing Ductal Hyperplasia (SSDH).
- To identify genetic alterations in SSDH and compare them to other breast lesions.
Main Methods:
- Next-generation sequencing of 523 genes was performed on seven SSDH cases.
- Patient demographics and lesion characteristics were analyzed.
Main Results:
- All seven SSDH cases (ages 40-74) showed PI3K pathway alterations.
- Mutations were identified in PIK3CA, PIK3R1, and PIK3C3 genes.
- No atypical hyperplasia or carcinoma was observed in the studied SSDH lesions.
Conclusions:
- SSDH shares PI3K pathway alterations with other proliferative breast lesions and neoplasms.
- These genetic similarities may explain the rare association of SSDH with atypical hyperplasia and breast cancer.
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