Feasibility of personalized screening and prevention recommendations in the general population through breast cancer risk assessment: results from a dedicated risk clinic.

PURPOSE: A personalized approach to prevention and early detection based on known risk factors should contribute to early diagnosis and treatment of breast cancer. We initiated a risk assessment clinic for all women wishing to undergo an individual breast cancer risk assessment. METHODS: Women underwent a complete breast cancer assessment including a questionnaire, mammogram with evaluation of breast density, collection of saliva sample, consultation with a radiologist, and a breast cancer specialist. Women aged 40 or older, with 0 or 1 first-degree relative with breast cancer diagnosed after the age of 40 were eligible for risk assessment using MammoRisk, a machine learning-based tool that provides an individual 5-year estimated risk of developing breast cancer based on the patient's clinical data and breast density, with or without polygenic risk scores (PRSs). DNA was extracted from saliva samples for genotyping of 76 single-nucleotide polymorphisms. The individual risk was communicated to the patient, with individualized screening and prevention recommendations. RESULTS: A total of 290 women underwent breast cancer assessment, among which 196 women (68%) were eligible for risk assessment using MammoRisk (median age 52, range 40-72). When PRS was added to MammoRisk, 40% (n = 78) of patients were assigned a different risk category, with 28% (n = 55) of patients changing from intermediate to moderate or high risk. CONCLUSION: Individual risk assessment is feasible in the general population. Screening recommendations could be given based on individual risk. The use of PRS changed the risk score and screening recommendations in 40% of women.

Ultrasound-guided high-intensity focused ultrasound treatment of breast fibroadenoma-a multicenter experience.

BACKGROUND: The aim of our multicenter study was to assess the clinical outcome and safety of ultrasound (US)-guided high-intensity focused ultrasound (HIFU) in patients with breast fibroadenoma (FA). METHODS: From May 2011 to February 2013, 42 women with 51 FA in one or both breasts were selected for treatment with US-guided HIFU. Eight of 51 FA were treated twice. Patients' age ranged from 16 to 52 years (mean 32 years). All patients with FA underwent core needle biopsy with histological confirmation. HIFU treatment was performed as an outpatient procedure under conscious sedation. Exclusion criteria were pregnant or lactating women, microcalcifications within the lesion at mammogram, history of breast cancer, previous laser or radiation therapy, and breast implant in the same breast. All patients signed written informed consent. After the treatment, follow-up US with volume evaluation was performed at 2, 6, and 12 months. RESULTS: The FA mean baseline volume was 3.89 ml (0.34-19.66 ml). At 2-month follow-up, the mean volume reduction was 33.2% ± 19.1% and achieved significance at 6-month (59.2% ± 18.2%, p < 0.001) and 12-month (72.5% ± 16.7%, p < 0.001) follow-up. Related side effects as superficial skin burn with blister-like aspect in three patients and hyperpigmentation over the treated area in one patient were transient and resolved spontaneously. In one patient, asymptomatic subcutaneous induration persisted at the end of the study. CONCLUSIONS: US-guided HIFU treatment is an effective noninvasive method for the treatment of breast FA and well tolerated by the patients. Preliminary results are encouraging and show that HIFU could be an alternative to surgery for breast FA.

Detection of pelvic vein thrombosis by magnetic resonance angiography in patients with acute pulmonary embolism and normal lower limb compression ultrasonography.

STUDY OBJECTIVE: In patients with proven acute pulmonary embolism (PE), a systematic search for "residual" deep vein thrombosis (DVT) using venography or compression duplex ultrasonography (CDUS) of the lower limbs is negative in 20 to 50% of patients. We hypothesized that undetectable pelvic vein thrombosis (from the external iliac vein to the inferior vena cava) could account for a substantial proportion of patients with negative CDUS findings. Using a noninvasive test, magnetic resonance angiography (MRA), the objective of the study was to assess the prevalence of pelvic DVT in patients with acute PEs and normal findings on lower limb CDUS. DESIGN: Prospective study. SETTING: A 35-bed respiratory unit in a 680-bed Parisian teaching hospital. PATIENTS: From June 1995 to October 1996, 24 patients (mean age, 49 years; age range, 18 to 83 years) with acute PEs and normal findings on lower limb CDUS underwent pelvic MRA. MEASUREMENTS AND RESULTS: MRA disclosed pelvic DVT in seven patients (29%). The common iliac vein was involved in five patients. Internal iliac vein (hypogastric) thrombosis was imaged in two patients, but no patients had DVT limited to this vein. Three patients underwent subsequent venography studies that confirmed the MRA findings. In three other patients, a new MRA at the end of anticoagulant therapy showed the resolution of the DVT. CONCLUSIONS: Our data support the view that, among patients with negative findings on CDUS, a substantial proportion of the DVTs that are responsible for PE originates in the pelvic veins. This study provides additional arguments to suggest that MRA might become the reference test for the exploration of pelvic DVT.