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.

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.

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.