Fine-Needle Aspiration Is Suitable for Breast Cancer <i>BRCA</i> Molecular Assessment: A Case Report
Breast cancer is the most common cause of cancer-related deaths in the female population worldwide. To the best of our knowledge, breast cancer (<i>BRCA</i>)<i>1/2</i> gene mutations have not been described yet on breast cancer cytological specimens. Here we describe the case...
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| Main Authors: | , , , , , , , , |
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| Format: | Book |
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MDPI AG,
2021-12-01T00:00:00Z.
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| Summary: | Breast cancer is the most common cause of cancer-related deaths in the female population worldwide. To the best of our knowledge, breast cancer (<i>BRCA</i>)<i>1/2</i> gene mutations have not been described yet on breast cancer cytological specimens. Here we describe the case of a 38-year old woman with a family and personal history for breast cancer, who underwent a fine needle aspiration (FNA) procedure for a novel 30 mm lesion located in the external quadrants of the contralateral (left) breast. Cytological findings and ancillary immunostaining confirmed the diagnosis of a triple negative NST carcinoma. <i>BRCA1/2</i> molecular assessment was carried out on DNA extracted from cytological (November 2020), biopsy (December 2014) and surgical resection (July 2015) specimens, as well as on the resection of a benign fibroadenoma, by using a next generation sequencing approach. Molecular analysis showed a pathogenic <i>BRCA1</i> insertion (c.5266dupC; p.Q1756PfsTer74) in the cytological specimen (allelic fraction 92.0%), biopsy (allelic fraction 84.2%), surgical resection (allelic fraction 87.8%) and fibroadenoma (58.9%), demonstrating a germinal <i>BRCA</i> mutated status. |
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| Item Description: | 10.3390/jmp2040028 2673-5261 |