Correction: Population screening for BRCA1/BRCA2 founder mutations in Ashkenazi Jews: proactive recruitment compared with self-referral.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Population screening for BRCA1/BRCA2 founder mutations in Ashkenazi Jews: proactive recruitment compared with self-referral.

PURPOSE: Population screening of three common BRCA1/BRCA2 mutations in Ashkenazi Jews (AJ) apparently fulfills screening criteria. We compared streamlined BRCA screening via self-referral with proactive recruitment in medical settings. METHODS: Unaffected AJ, age ≥25 years without known familial mutations, were either self-referred or recruiter-enrolled. Before testing, participants received written information and self-reported family history (FH). After testing, both non-carriers with significant FH and carriers received in-person genetic counseling. Psychosocial questionnaires were self-administered 1 week and 6 months after enrollment. RESULTS: Of 1,771 participants, 58% were recruiter-enrolled and 42% were self-referred. Screening uptake was 67%. Recruited enrollees were older (mean age 54 vs. 48, P < 0.001) and had less suggestive FH (23 vs. 33%, P < 0.001). Of 32 (1.8%) carriers identified, 40% had no significant FH. Post-test counseling compliance was 100% for carriers and 89% for non-carrier women with FH. All groups expressed high satisfaction (>90%). At 6 months, carriers had significantly increased distress and anxiety, greater knowledge, and similar satisfaction; 90% of participants would recommend general AJ BRCA screening. CONCLUSION: Streamlined BRCA screening results in high uptake, very high satisfaction, and no excess psychosocial harm. Proactive recruitment captured older women less selected for FH. Further research is necessary to target younger women and assess other populations.Genet Med advance online publication 08 December 2016.

CT measurement of breast glandular tissue and its association with testicular cancer.

OBJECTIVES: To evaluate the associations between breast glandular tissues diameters as determined by CT and b-hCG levels, histological types, tumour spread and prognosis in patients with testicular germ cell tumour. METHODS: Ninety-four patients with pre-treatment CT scan and markers (b-hCG, AFP, LDH) were retrospectively collected. A radiologist measured diameters in all CT examinations and correlation between diameters and log (b-hCG) was assessed (Pearson's coefficient). The ability of measured diameters to predict lymphatic and distant haematogenous metastatic spread was evaluated (ROC curves). The associations between measured diameter cut-off values of 20 and 25 mm and International Germ Cell Cancer Collaborative Group (IGCCCG) classification, lymphatic and distant haematogenous metastatic spread and histological subtypes were evaluated (chi squared test). RESULTS: Breast glandular diameters correlated to log(b-hCG) (r = 0.579) and predicted distant haematogenous metastatic spread (AUC = 0.78). Worse prognosis (intermediate or poor IGCCCG) was shown for 20 mm (27.3 vs. 4.2 %, p = 0.005) and 25 mm (33.3 vs. 6.1 %, p = 0.014). A diameter of 25 mm was associated with non-seminoma (91.7 vs. 48.8 %, p = 0.005). CONCLUSION: Breast glandular tissue diameters correlated with log(b-hCG) and predicted distant haematogenous metastases. Twenty and 25 mm were associated with worse prognosis and 25 mm was able to distinguish between seminoma and non-seminoma. KEY POINTS: • CT breast glandular tissue diameter correlates with log(b-HCG) • Gynaecomastia in CT is associated with worse prognosis • Gynaecomastia in CT is associated with non-seminoma histological subtype.

Quantitative CT Assessment of Gynecomastia in the General Population and in Dialysis, Cirrhotic, and Obese Patients.

RATIONALE AND OBJECTIVES: Gynecomastia is the benign enlargement of the male breast because of proliferation of the glandular component. To date, there is no radiological definition of gynecomastia and no quantitative evaluation of breast glandular tissues in the general male population. The aims of this study were to supply radiological-based measurements of breast glandular tissue in the general male population, to quantitatively assess the prevalence of gynecomastia according to age by decades, and to evaluate associations between gynecomastia and obesity, cirrhosis, and dialysis. MATERIALS AND METHODS: This retrospective study included 506 men who presented to the emergency department following trauma and underwent chest-abdominal computed tomography. Also included were 45 patients undergoing hemodialysis and 50 patients with cirrhosis who underwent chest computed tomography. The incidence and size of gynecomastia for all the study population were calculated. RESULTS: Breast tissue diameters of 22 mm, 28 mm, and 36 mm corresponded to 90th, 95th, and 97.5th cumulative percentiles of diameters in the general male population. Peaks of gynecomastia were shown in the ninth decade and in boys aged 13-14 years. Breast tissue diameter did not correlate with body mass index (r = -0.031). Patients undergoing hemodialysis and patients with cirrhosis had higher percentages (P < .0001) of breast tissue diameters above 22 mm, 28 mm, and 36 mm. CONCLUSIONS: Breast tissue diameter is a simple and reliable quantitative tool for the assessment of gynecomastia. This method provides the ability to determine the incidence of gynecomastia by age in the general population. Radiological gynecomastia should be defined as 22 mm, 28 mm, or 36 mm (90th, 95th, and 97.5th percentiles, respectively). Radiological gynecomastia is not associated with obesity, but is associated with cirrhosis and dialysis.

Biologically derived companding algorithm for high dynamic range mammography images.

The screening mammography is currently the best procedure available for early detection of the breast cancer. The acquired mammograms are high dynamic range (HDR) images having a 12 bit grayscale resolution. When viewed by a radiologist, a single image must be examined several times, each time focusing on a different intensity range. We have developed a biologically derived mammography companding (BDMC) algorithm for compression, expansion, and enhancement of mammograms, in a fully automatic way. The BDMC is comprised of two main processing stages: 1) preliminary processing operations which include standardization of the intensity range and expansion of the intensities which belong to the low intensity range. 2) Adaptively companding the HDR range by integrating multiscale contrast measures. The algorithm's performance has been preliminarily clinically tested on dozens of mammograms in collaboration with experienced radiologists. It appears that the suggested method succeeds in presenting all of the clinical information, including all the abnormalities, in a single low dynamic range companded image. This companded and enhanced image is not degraded more than the HDR image and can be analyzed without the need for professional workstation and its specific enhancement software.

Capsular contracture of the breast: working towards a better classification using clinical and radiologic assessment.

BACKGROUND: Breast reconstruction and augmentation have become a standard surgical treatment worldwide as advancements in medicine and technology enable safer and simpler procedures. A variety of implants is used to mimic a natural breast both in appearance and texture. The most common complication of such procedures is capsular contracture encircling the implant, occurring in approximately 10%. As to date, the contracture is mainly estimated by a physical examination of the breast, which is standardized according to the Baker score. METHODS: In a cross-sectional study, we compared the clinical assessment of capsular contractures to a radiologic thickness of the capsule, as evaluated by ultrasound (US) and magnetic resonance imaging (MRI). A total of 20 patients, with 27 implants, were evaluated in the study. All patients were examined by a single senior plastic surgeon and divided into 4 groups according to their clinical Baker score estimation. Following, a US imaging of the implant with emphasis on capsular evaluation was performed. The MRI results, recently done prior to the study, were reevaluated in relation to capsular findings. RESULTS: Thirteen breasts had a clinical capsular contraction with a Baker score of I, 8 breasts with a Baker score of II, and 6 breasts with a Baker score of III-IV. The US and MRI images of breasts graded III-IV revealed a thickened capsule (mean of 2.39 mm by US and 2.62 mm by MRI) compared with the capsular imaging of the breasts with the lower clinical Baker scores (mean of 1.14 mm by US and 1.39 mm by MRI). These differences were statistically significant according to the Kruskal-Wallis test, with P values of 0.002 and 0.017, respectively. Both MRI and US studies revealed distinct appearance of the thickened capsule. CONCLUSION: It seems the capsular thickness as portrayed by US and MRI correlates well with the Baker scoring system and at the same time provides the physician with an objective and consistent evaluation. However, since clinical assessment can be difficult to interpret at times, objective-imaging modalities can be effectively used to assess capsular thickening in women with a clinical suspicion of capsular contraction. A revised classification of capsular contracture, taking into account the imaging of the capsule, is suggested.

Focused ultrasound treatment of uterine fibroid tumors: safety and feasibility of a noninvasive thermoablative technique.

OBJECTIVE: The purpose of this study was to determine the safety and efficacy of focused ultrasound surgery with magnetic resonance imaging guidance for the noninvasive treatment of uterine leiomyomas. STUDY DESIGN: Fifty-five women with clinically significant uterine leiomyomas were treated. Pain and complications were assessed prospectively, and posttreatment magnetic resonance imaging was used to measure the treatment effects. Patients in three of the five centers underwent planned hysterectomy after treatment, which provided pathologic correlation of treatment. RESULTS: Seventy-six percent of the enrolled patients completed the full treatment session. All treatments were conducted in an outpatient setting with minimal discomfort for subjects and no major complications. Pathologic examination of the uterus confirmed that magnetic resonance imaging guidance provides the safe and accurate delivery of effective levels of thermal energy with a 3-fold increase in volume of histologically documented necrosis, compared with treatment volume (6.6 +/- 0.8 vs 18.4 +/- 3.9 mL, P <.005). CONCLUSION: Magnetic resonance imaging-guided focused ultrasound surgery appears to be a well-tolerated treatment for uterine leiomyomas.