Breast cancer detected on an incident (second or subsequent) round of screening MRI: MRI features of false-negative cases.

OBJECTIVE: The purpose of this article is to evaluate the nature of breast cancers detected in the incident round of screening MRI to determine MRI features of early breast cancer. MATERIALS AND METHODS: From 2003 to 2012, there were 16 incident breast cancers in 15 patients on screening MRI, including nine cancers that were retrospectively identifiable on the prior MRI (false-negative [FN] cancers at prior screening examination). We evaluated the BI-RADS features of these incident cancers in previous and current MRI scans. RESULTS: Of 16 incident cancers, there were 11 mass lesions (69%), three foci (19%), and two nonmasslike enhancement lesions (13%). Of the nine FN cancers (five foci, two masses, and two nonmasslike enhancement lesions), all showed increases in size on the current examination (median, 80% increase); four lesions showed rapid uptake kinetics on prior examinations, and five lesions showed a change in kinetic pattern from slow to rapid uptake. Among the five foci, one focus was isolated and four foci were in a background of other foci, where two foci could be distinguished for their higher signal intensity. CONCLUSION: On screening MRI, any lesion that increases in size, has rapid uptake kinetics or a change in kinetic pattern, or is an isolated focus or focus showing more enhancement than other foci should be viewed with a high degree of suspicion, and a biopsy should be considered.

Utilization of Complementary Alternative Medicine, Diet, and Exercise Among Women at High Risk for Developing Breast Cancer.

Background: Women diagnosed as having a high risk for breast cancer (HR-BC) often seek different health behaviors (HBs) such as complementary and alternative medicine (CAM), diet, and exercise to improve their health and cancer outcome. Methods: Women already enrolled in a multimodality screening study for patients at HR-BC (gene mutation carrier or >20% cumulative lifetime risk) were given a questionnaire to evaluate their use of CAM therapies, diet, and exercise before and after a diagnosis of HR-BC. Patients were also asked to complete the Short-Form 36, State-Trait Anxiety Inventory, and Beck Depression Inventory. Results: A total of 134 (67%) subjects completed the survey from the original cohort. General characteristics included a median age of 46 years (range = 24-73 years), majority were White (91%), BRCA1/2 gene mutation carrier (49%), and prior diagnosis of breast and/or ovarian cancer (30%). Almost all of the patients reported a lifetime prevalence of any HB (97%) and CAM utilization (91%). Subjects also had a high lifetime utilization of exercise (83%), herbs and supplements(72%), and diet programs (58%). All of these HBs declined in utilization after diagnosis of HR-BC by as much as 30%. After diagnosis of a HR-BC, a personal history of breast and/or ovarian cancer was significantly correlated with increased use of CAM (odds ratio [OR] = 5.9, P < .01), herbs and supplements (OR = 4.3, P < .01), and diet program (OR = 4.4, P < .01) in multivariate analysis. Conclusions: HBs such as CAM, diet, and exercise are highly prevalent among women with HR-BC, and the utilization of HB decreases significantly after diagnosis of HR-BC.

Intensive Surveillance with Biannual Dynamic Contrast-Enhanced Magnetic Resonance Imaging Downstages Breast Cancer in BRCA1 Mutation Carriers.

PURPOSE: To establish a cohort of high-risk women undergoing intensive surveillance for breast cancer.Experimental Design: We performed dynamic contrast-enhanced MRI every 6 months in conjunction with annual mammography (MG). Eligible participants had a cumulative lifetime breast cancer risk ≥20% and/or tested positive for a pathogenic mutation in a known breast cancer susceptibility gene. RESULTS: Between 2004 and 2016, we prospectively enrolled 295 women, including 157 mutation carriers (75 BRCA1, 61 BRCA2); participants' mean age at entry was 43.3 years. Seventeen cancers were later diagnosed: 4 ductal carcinoma in situ (DCIS) and 13 early-stage invasive breast cancers. Fifteen cancers occurred in mutation carriers (11 BRCA1, 3 BRCA2, 1 CDH1). Median size of the invasive cancers was 0.61 cm. No patients had lymph node metastasis at time of diagnosis, and no interval invasive cancers occurred. The sensitivity of biannual MRI alone was 88.2% and annual MG plus biannual MRI was 94.1%. The cancer detection rate of biannual MRI alone was 0.7% per 100 screening episodes, which is similar to the cancer detection rate of 0.7% per 100 screening episodes for annual MG plus biannual MRI. The number of recalls and biopsies needed to detect one cancer by biannual MRI were 2.8 and 1.7 in BRCA1 carriers, 12.0 and 8.0 in BRCA2 carriers, and 11.7 and 5.0 in non-BRCA1/2 carriers, respectively. CONCLUSIONS: Biannual MRI performed well for early detection of invasive breast cancer in genomically stratified high-risk women. No benefit was associated with annual MG screening plus biannual MRI screening.See related commentary by Kuhl and Schrading, p. 1693.

Uptake and timing of bilateral prophylactic salpingo-oophorectomy among BRCA1 and BRCA2 mutation carriers.

PURPOSE: To evaluate prophylactic salpingo-oophorectomy uptake and timing among BRCA1/2 mutation carriers in a cancer risk assessment program. METHODS: Clinical records of female BRCA1/2 mutation carriers who received cancer genetic counseling between 1996 and 2003 were reviewed to determine the completion and the timing of prophylactic salpingo-oophorectomy. Logistic regression models evaluated associations between subject characteristics and surgery. Survival analysis methods were used to estimate the distribution of time to surgery. RESULTS: Among 88 women, 70% underwent prophylactic salpingo-oophorectomy. Prophylactic salpingo-oophorectomy was associated with older age, white race, having children, and a family history of ovarian cancer. Many women waited more than 12 months to undergo surgery and some delayed by several years. Younger age and not having children were associated with delays to surgery. CONCLUSION: Prophylactic salpingo-ooporectomy is an acceptable risk reduction measure for many BRCA1/2 mutation carriers. Some women make this decision many years after genetic testing. Continued discussion of the risks and benefits of risk reduction options may facilitate the uptake of recommended risk reduction interventions among BRCA mutation carriers.

Prenatal diagnosis of methotrexate embryopathy.

BACKGROUND: Methotrexate is an antineoplastic agent used by obstetrician-gynecologists for termination of early pregnancy. The drug is not always successful and is associated with a known array of malformations. CASE: We present a case of a failed pregnancy termination with methotrexate, which resulted in fetal anomalies. Ultrasound revealed absent or markedly shortened long bones, abnormal positioning of the hands, micrognathia, echogenic bowel, and a two-vessel umbilical cord. The patient elected to undergo pregnancy termination, and the ultrasound findings were confirmed at autopsy. CONCLUSION: Because of methotrexate's teratogenic potential, follow-up to confirm successful termination is necessary. Ultrasound evaluation of the fetus is indicated if pregnancy termination is unsuccessful.

Mucopolysaccharidosis type VII as a cause of recurrent non-immune hydrops fetalis.

BACKGROUND: Mucopolysaccharidosis type VII (MPS VII) is a rare lysosomal storage disease first described by Sly in 1973. There are fewer than thirty reported cases world wide. This extremely rare disorder can present in-utero as hydrops fetalis and has a high recurrence rate. However, prenatal diagnosis in the absence of a previously affected child, has not been reported to date. CASE: This is a case of a non-consanguineous couple, with no history of a previously affected child with MPS VII, presenting with recurrent hydrops fetalis. During the work-up, the affected fetus was diagnosed in-utero with beta-glucuronidase deficiency which is pathognomonic for MPS VII. Prenatal diagnosis was then performed in subsequent pregnancies. CONCLUSION: The importance of an extensive and thorough investigation for the etiology of hydrops fetalis is discussed.