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1 University of Cologne Cologne, Germany
2 University of Bonn Bonn, Germany
3 University of Cologne Cologne, Germany
Hong et al. [1] recently reported a high predictive value of descriptors from the sonographic BI-RADS lexicon [2] of the American College of Radiology for discrimination of benign and malignant solid lesions of the breast. We here want to emphasize that BRCA1-associated breast carcinomas present with aberrant sonographic features that may lead to misinterpretation when applying the reported descriptors.
Within a multimodal screening program including annual mammogaphy and MRI, and semiannual sonography, we detected six primary and six contralateral breast carcinomas in 44 women carrying a BRCA1 mutation. The mean age of carriers was 37.8 and 41 years, respectively.
By sonography, two carcinomas of 0.8 and 2.2 cm were categorized as BI-RADS 4 and 5, seven lesions ranging from 0.6 to 1.9 cm were categorized as BI-RADS 3, and three lesions ranging from 0.35 to 1.2 cm were invisible (BI-RADS 1). By mammography, two carcinomas of 1.2 and 1.4 cm were categorized as BI-RADS 4 and 5, three lesions ranging from 1.2 to 1.9 cm were categorized as BI-RADS 3, and seven lesions ranging from 0.35 to 2.2 cm were invisible (BI-RADS 1). MRI detected nine carcinomas (BI-RADS 5). Histologically, two carcinomas were categorized as medullary and 10 as ductal invasive carcinomas. All were hormone receptor negative and high grade and all but three tumors were node negative.
By routine synopsis of all diagnostic findings, we discovered a strong correlation between histologic and sonographic morphology in BRCA1 carriers. In accordance with acknowledged literature, the two medullary carcinomas revealed sonographic characteristics indicative of fibroadenomas, i.e., round shape, circumscribed margins, homogeneous internal structure, hypoechoic echogenecity, enhanced sound transmission, and bilateral edge shadows leading to a BI-RADS 3 classification [3] (Figs. 1A and 1B). Interestingly, five additional ductal invasive carcinomas resembled the same benign sonographic morphology with round shape and homogeneous internal structure as the most prominent features (Figs. 2A and 2B). However, none of the tumors exhibited a thin pseudocapsule that is highly predictive of a benign diagnosis according to the Stavros lexicon [4]. Therefore, this criterion deserves further attention as a predictor in favor of a benign lesion in BRCA1 mutation carriers.
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From these observations we conclude that sonography may be a valuable diagnostic tool in young BRCA1 mutation carriers with dense breast tissue and that newly emerged solid lesions suspicious of a fibroadenoma should be subjected to core needle biopsy in these women.
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