Feasibility and accuracy of digital breast tomosynthesis–guided vacuum-assisted breast biopsy for noncalcified mammographic targets

PURPOSEWe aimed to determine the feasibility and accuracy of digital breast tomosynthesis–guided vacuum-assisted breast biopsy (DBT-VAB) for noncalcified lesions without a sonographic correlate and to assess the concordance of imaging and pathology findings.METHODSA retrospective review of our institutional biopsy database between December 11, 2015, and August 31, 2016, identified 72 consecutive women with 73 noncalcified lesions on digital breast tomosynthesis who underwent attempted DBT-VAB. Relevant imaging was reviewed in consensus by 3 fellowship-trained breast radiologists for imaging features and biopsy parameters. Medical records were reviewed for histopathology and imaging follow-up.RESULTSThe target lesion was successfully sampled by DBT-VAB in 99% (72 of 73) of cases. The median time to complete DBT-VAB was 16 minutes. No major complications were reported. Findings included 3 focal asymmetries (4%), 7 asymmetries (10%), 21 masses (29%), and 41 architectural distortions (ADs) (57%). Final histopathology was malignant in 24% (17 of 72), actionable high-risk in 4% (3 of 72), and benign in 72% (52 of 72). VAB pathology was concordant in 86% (62 of 72): 21% malignant, 6% high risk, and 60% benign. VAB pathology was discordant in 14% (10 of 72). One malignancy and 4 complex sclerosing lesions were missed after DBT-VAB of AD, which was confirmed on surgical excision. Therefore, the misdiagnosis rate for DBT-VAB was 7% (5 of 72).CONCLUSIONDBT-VAB is a quick and feasible biopsy method for targeting noncalcified mammographic lesions without a sonographic correlate. The 24% malignancy rate reaffirms that biopsy is necessary for suspicious mammographic lesions occult on ultrasound. Although DBT-VAB shows high accuracy for noncalcified lesions, meticulous radiology-pathology correlation is required in the interpretation of DBT-VAB results, with surgical excision of discordant cases

GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements

Intrahepatic cholestasis of pregnancy (ICP) is a pregnancy-specific liver disorder affecting 0.5–2% of pregnancies. The majority of cases present in the third trimester with pruritus, elevated serum bile acids and abnormal serum liver tests. ICP is associated with an increased risk of adverse outcomes, including spontaneous preterm birth and stillbirth. Whilst rare mutations affecting hepatobiliary transporters contribute to the aetiology of ICP, the role of common genetic variation in ICP has not been systematically characterised to date. Here, we perform genome-wide association studies (GWAS) and meta-analyses for ICP across three studies including 1138 cases and 153,642 controls. Eleven loci achieve genome-wide significance and have been further investigated and fine-mapped using functional genomics approaches. Our results pinpoint common sequence variation in liver-enriched genes and liver-specific cis-regulatory elements as contributing mechanisms to ICP susceptibility

Do benign-concordant breast MRI biopsy results require short interval follow-up imaging? Report of longitudinal study and review of the literature

OBJECTIVE: The objectives of this study were to examine the frequency and outcomes of short interval imaging follow up of benign, concordant breast MRI biopsies and review the published literature on this topic. MATERIALS AND METHODS: This was an IRB-approved, HIPAA compliant retrospective review of women undergoing MRI-guided breast biopsies between October 1, 2008 and December 31, 2014. Patients with malignant or high risk lesions with recommendation for excision, discordant cases, and those undergoing breast conservation therapy in same quadrant, chemotherapy or mastectomy were excluded. At least 2 years imaging and/or clinical follow-up without development of cancer in the same quadrant as the biopsy was set as the benchmark to confirm benign etiology. A PubMed search of similar articles through 2018 was also performed for the literature review. RESULTS: 943 consecutive MRI-guided biopsies were performed in 785 women. Of these, 378/943 (40.1%) were benign and met inclusion criteria. Eleven cases were recommended for and underwent repeat MRI-guided biopsy or excision, 2 of which were malignant. The overall false negative rate for benign concordant MRI-guided biopsy was 2/378, 0.5% (95% CI 0.02 to 2.0%). Literature search demonstrated five articles with similar methodologies yielding 628 additional cases of benign concordant breast biopsies. Nine of these cases were eventually diagnosed as malignancy with a false negative rate of 1.4%. Combined with our data, the overall false negative rate is 1.1%. CONCLUSIONS: Short interval follow-up exams for benign concordant MRI-guided breast biopsies may not be necessary given the low malignancy rate

Lobular neoplasia detected at MRI-guided biopsy: imaging findings and outcomes

OBJECTIVE: To review MRI findings of pure lobular neoplasia (LN) on MRI guided biopsy, evaluate surgical and clinical outcomes, and assess imaging findings predictive of upgrade to malignancy. METHODS: HIPAA compliant, IRB-approved retrospective review of our MRI-guided breast biopsy database from October 2008-January 2015. Biopsies yielding atypical lobular hyperplasia or lobular carcinoma in situ were included in the analysis; all biopsy slides were reviewed by a dedicated breast pathologist. Imaging indications, MRI findings, and histopathology were reviewed. Statistical analysis was performed using the two-tailed Fisher exact-test and the t-test, and 95% CIs were determined. A p \u3c 0.05 was considered statistically significant. RESULTS: Database search yielded 943 biopsies in 785 patients of which 65/943 (6.9%) reported LN as the highest risk pathologic lesion. Of 65 cases, 32 were found to have LN as the dominant finding on pathology and constituted the study population. All 32 findings were mammographically and sonographically occult. Three of 32 (9.3%) cases of lobular neoplasia were upgraded to malignancy, all LCIS (one pleomorphic and two classical). The most common MRI finding was focal, heterogenous non-mass enhancement with low T2 signal. No clinical features or imaging findings were predictive of upgrade to malignancy. CONCLUSION: Incidence of pure lobular neoplasia on MRI guided biopsy is low, with comparatively low incidence of upgrade to malignancy. No imaging or clinical features are predictive of upgrade on surgical excision, therefore, prudent radiologic-pathologic correlation is necessary