BRCA and Beyond: Comprehensive Image-rich Review of Hereditary Breast and Gynecologic Cancer Syndromes.

In addition to the well-characterized BRCA1 and BRCA2 hereditary breast and ovarian cancer syndromes, many other syndromes that are associated with genetic mutations predispose individuals to an increased risk of breast and gynecologic malignancies. Many mutated genes encode for tumor-suppressor products and are inherited in an autosomal dominant manner. Mutations markedly increase an individual's lifetime risk of cancers in different organ systems, depending on the associated syndrome. These syndromes include Lynch syndrome, the most common hereditary cause of endometrial cancer, and Peutz-Jeghers syndrome, which increases the risks of breast cancer, ovarian cancer, and cervical adenoma malignum. Li-Fraumeni syndrome and Cowden syndrome increase the risk of breast cancer, and Gorlin syndrome increases the risk of ovarian fibromas. With advances in genetic testing, clinicians' knowledge and awareness of the numerous additional genes associated with breast and ovarian cancers, such as ATM, CHEK2, and PALB2, are rapidly expanding. Radiologists have essential roles in patient management, which include developing optimal screening protocols for these patients and closely monitoring them for the development or recurrence of disease-specific malignancies. Radiologists' roles continue to increase and evolve as more mutations are identified and high-risk imaging screening recommendations expand to identify these patients. Understanding the epidemiologic, genetic, and pathophysiologic features and the cancers associated with these syndromes enables radiologists to appropriately contribute to patient management, ensure accurate and timely diagnosis, and make syndrome-specific imaging recommendations. ©RSNA, 2020.

Newly Diagnosed Breast Cancer: Comparison of Contrast-enhanced Spectral Mammography and Breast MR Imaging in the Evaluation of Extent of Disease.

Purpose To compare the diagnostic performances of contrast material-enhanced spectral mammography and breast magnetic resonance (MR) imaging in the detection of index and secondary cancers in women with newly diagnosed breast cancer by using histologic or imaging follow-up as the standard of reference. Materials and Methods This institutional review board-approved, HIPAA-compliant, retrospective study included 52 women who underwent breast MR imaging and contrast-enhanced spectral mammography for newly diagnosed unilateral breast cancer between March 2014 and October 2015. Of those 52 patients, 46 were referred for contrast-enhanced spectral mammography and targeted ultrasonography because they had additional suspicious lesions at MR imaging. In six of the 52 patients, breast cancer had been diagnosed at an outside institution. These patients were referred for contrast-enhanced spectral mammography and targeted US as part of diagnostic imaging. Images from contrast-enhanced spectral mammography were analyzed by two fellowship-trained breast imagers with 2.5 years of experience with contrast-enhanced spectral mammography. Sensitivity, specificity, positive predictive value (PPV), and negative predictive value were calculated for both imaging modalities and compared by using the Bennett statistic. Results Fifty-two women with 120 breast lesions were included for analysis (mean age, 50 years; range, 29-73 years). Contrast-enhanced spectral mammography had similar sensitivity to MR imaging (94% [66 of 70 lesions] vs 99% [69 of 70 lesions]), a significantly higher PPV than MR imaging (93% [66 of 71 lesions] vs 60% [69 of 115 lesions]), and fewer false-positive findings than MR imaging (five vs 45) (P < .001 for all results). In addition, contrast-enhanced spectral mammography depicted 11 of the 11 secondary cancers (100%) and MR imaging depicted 10 (91%). Conclusion Contrast-enhanced spectral mammography is potentially as sensitive as MR imaging in the evaluation of extent of disease in newly diagnosed breast cancer, with a higher PPV. © RSNA, 2017.

Demographic and Socioeconomic Risk Factors for Granulomatous Mastitis in the United States: A Case-Control Study.

OBJECTIVE: Granulomatous mastitis (GM) is a benign breast disease that can have an extended clinical course impacting quality of life and causing breast disfigurement. Granulomatous mastitis has been studied throughout the world; however, less is known about GM patients in the United States. We aim to identify demographic and socioeconomic factors associated with GM in the United States. METHODS: An IRB-approved retrospective case-control study was performed of 92 patients with biopsy-proven GM at two institutions in Los Angeles, California: a safety-net hospital and an academic institution. Age-matched controls were selected from patients presenting for diagnostic breast imaging. Demographic and socioeconomic characteristics were collected. Data were analyzed using univariable test for odds ratios (ORs) with 95% confidence intervals (CIs) and multivariable conditional logistic regression. RESULTS: Patients with GM were more likely to prefer Spanish language (OR 6.20, 95% CI: 2.71%-14.18%), identify as Hispanic/Latina (OR 5.18, 95% CI: 2.38%-11.30%), and be born in Mexico (OR 3.85, 95% CI: 1.23%-12.02%). Cases were more likely to have no primary care provider (OR 3.76, 95% CI: 1.97%-7.14%) and use California Medicaid for undocumented adults (OR 3.65, 95% CI: 1.89%-7.08%). In the multivariable analysis, participants who preferred Spanish language had four times higher odds of GM versus those who preferred English language (OR 4.32, 95% CI: 1.38%-13.54%). CONCLUSION: Patients with GM may have barriers to health care access, such as preferring Spanish language, being an undocumented immigrant, and not having a primary care provider. Given these health care disparities, further research is needed to identify risk factors, etiologies, and treatments for this subset of GM patients.

Postmortem CT in decedents with SARS-CoV-2 infection. A single institution experience.

Coronavirus disease 2019 (COVID-19) caused by SARS-CoV-2 produced a global pandemic with significant mortality. As autopsies are not routinely performed on all decedents with SARS-CoV-2 infection, postmortem CT (PMCT) may be valuable to provide additional information on the cause of death and risk factors known to be associated with an increased mortality in COVID-19. The purpose of this manuscript is to review the PMCT findings in a series of 42 decedents with SARS-CoV-2 infection from our institution. Retrospective analysis of 42 decedents who had a positive postmortem nasopharyngeal swab for SARS-CoV-2 and had a PMCT were included in this study. Images were reviewed for pulmonary findings seen in COVID-19 and other organ involvement. Of the 42 decedents, although the majority had imaging findings in the lungs that would be consistent with COVID-19 and acute respiratory distress syndrome, in 14% of the decedents the SARS-CoV-2 infection was likely coincidental and the PMCT findings suggested that they died from other pathology. Over half of the decedents that died from COVID-19 had PMCT findings of vascular disease. PMCT is useful to identify pulmonary and extra pulmonary findings in decedents with SARS-CoV-2 infection that can provide additional information, which may be useful for the forensic pathologist to help determine the underlying cause of death. Supplemental data for this article are available online at.

Quantitative Analysis of Contrast-enhanced Mammography for Risk Stratification of Benign Versus Malignant Disease and Molecular Subtype.

OBJECTIVE: To assess quantitative enhancement of benign, high-risk, and malignant lesions and differences in molecular subtype and grade of malignant lesions on contrast-enhanced mammography (CEM). METHODS: This IRB-approved retrospective study included women who underwent CEM for diagnostic work-up of a breast lesion between 2014 and 2020. Inclusion criteria were women who had diagnostic work-up with CEM and had BI-RADS 1 or 2 with one year follow-up, BI-RADS 3 with tissue diagnosis or stability for 2 years, or BI-RADS 4 or 5 with tissue diagnosis. An enhancement ratio was calculated for all lesions. This was obtained by drawing a region of interest within the lesion and a second region of interest in the nonenhancing background tissue using a program developed with MATLAB. Descriptive statistics were evaluated using chi-squared tests, Fisher exact tests, and analysis of variance. A logistic regression model was used to predict cancer outcome using the enhancement ratio. Statistical significance was defined as P < 0.05. RESULTS: There were 332 lesions in 210 women that met study criteria. Of the 332 lesions, 50.9% (169/332) were malignant, 5.7% (19/332) were high-risk, and 43.4% (144/332) were benign. Enhancement intensity of malignant lesions was higher than benign lesions. Odds ratio for quantitative enhancement of malignant lesions was 30.15 (P < 0.0001). Enhancement ratio above 1.49 had an 84.0% sensitivity and 84.0% specificity for malignancy. HER2-enriched breast cancers had significantly higher mean enhancement ratios (P = 0.0062). CONCLUSION: Quantitative enhancement on CEM demonstrated that malignant breast lesions had higher mean enhancement intensity than benign lesions.

Chronic Constipation and Its Complications: An Interesting Finding to an Otherwise Commonplace Problem.

Background. Fecalomas are hard dense masses separate from surrounding fecal material or bowel contents. This case report intends to provide a brief review of the literature and differential diagnosis for a pelvic mass in a pediatric patient. Case Presentation. The patient is a 5-year-old male presenting with worsening constipation and stool leakage over several months, found to have a rare calcified pelvic mass on abdominal X-ray consistent with a fecaloma. Conclusion. Fecalomas should be considered on the differential diagnosis of pediatric patients who present with chronic constipation and a calcified pelvic mass.

Complications after uterine artery embolization for leiomyomas.

OBJECTIVE: To determine the frequency and severity of complications that occur as a result of uterine artery embolization for leiomyomas. METHODS: As part of an ongoing study of outcome after uterine embolization, prospective data regarding complications that occurred in 400 consecutive patients were gathered. Each patient had a minimum of a 3-month interval from the procedure at the time of analysis. Each complication was categorized and graded as to severity and outcome using the complication classification developed by the Society of Cardiovascular and Interventional Radiology (SCVIR) and a modified set of The American College of Obstetricians and Gynecologists (ACOG) criteria for complications of hysterectomy and myomectomy. All adverse events that occurred during the follow-up period were included, including those that occurred after the 3-month minimum interval. Confidence intervals (CIs) were calculated for each complication. RESULTS: There were no deaths and no major permanent injuries. One patient required hysterectomy as a result of a complication, and one patient had an undiagnosed leiomyosarcoma. There were ten in-hospital complications and an additional 27 complications within the first 30 days, with 34 patients experiencing a periprocedural complication for a rate of 8.5% (95% CI 6.0%, 11.7%). There were five serious complications (SCVIR class D), comprising 1.25% (95% CI 0.3%, 2.5%) of the study group. Using ACOG definitions for perioperative complications, the overall morbidity was 5% (95% CI 3.1%, 7.7%). CONCLUSION: The short-term complication rate was low in women undergoing uterine embolization.

Leiomyomata treated with uterine artery embolization: factors associated with successful symptom and imaging outcome.

PURPOSE: To determine whether baseline variables are associated with treatment success after uterine artery embolization for treatment of uterine leiomyoma. MATERIALS AND METHODS: Two hundred consecutive patients who underwent uterine artery embolization at one institution were prospectively examined. Baseline clinical variables measured included age, race, prior oral contraceptive use or progesterone treatment, prior gonadotropin-releasing hormone agonist treatment, and prior births. Imaging parameters were baseline uterine volume, baseline leiomyoma volume and location, and number of leiomyomas. After treatment, follow-up imaging and questionnaire data were obtained at 3 and 12 months. Associations between baseline characteristics and outcome variables of interest were assessed by using linear regression, logistic regression, Pearson product moment correlation coefficients, and Kendal tau correlation coefficients, with adjustment for confounding variables when indicated. RESULTS: Regression models indicated that larger dominant leiomyoma volume was associated with a smaller percentage reduction in volume at 3 months (P =.03). A submucosal leiomyoma location was associated with a greater volume reduction at 3 months (P =.04), but this difference did not persist at 12 months (P =.09). The odds of reported menstrual bleeding improvement at 3 months were higher with a submucosal leiomyoma location (P =.04); however, this association was not statistically significant after adjustment (P =.07). The odds of improved bulk-related symptoms were not associated with leiomyoma volume change or location. CONCLUSION: Smaller baseline leiomyoma size and submucosal location are more likely to result in a positive imaging outcome. There are limited associations between other baseline parameters and either symptom change or imaging outcome.