Breast cancer screening in BRCA1/2 pathogenic sequence variant carriers during pregnancy and lactation.

OBJECTIVES: Women harboring germline BRCA1/BRCA2 pathogenic sequence variants (PSVs) are at an increased risk for breast cancer. There are no established guidelines for screening during pregnancy and lactation in BRCA carriers. The aim of this study was to evaluate the utility of whole-breast ultrasound (US) screening in pregnant and lactating BRCA PSV carriers. METHODS: Data were retrospectively collected from medical records of BRCA PSV carriers between 2014 and 2020, with follow-up until 2021. Associations between imaging intervals, number of examinations performed and pregnancy-associated breast cancers (PABCs) were examined. PABCs and cancers diagnosed at follow-up were evaluated and characteristics were compared between the two groups. RESULTS: Overall 212 BRCA PSV carriers were included. Mean age was 33.6 years (SD 3.93, range 25-43 years). During 274 screening periods at pregnancy and lactation, eight (2.9 %) PABCs were diagnosed. An additional eight cancers were diagnosed at follow-up. Three out of eight (37.5 %) PABCs were diagnosed by US, whereas clinical breast examination (n = 3), mammography (n = 1) and MRI (n = 1) accounted for the other PACB diagnoses. One PABC was missed by US. The interval from negative imaging to cancer diagnosis was significantly shorter for PABCs compared with cancers diagnosed at follow-up (3.96 ± 2.14 vs. 11.2 ± 4.46 months, P = 0.002). CONCLUSION: In conclusion, pregnant BRCA PSV carriers should not delay screening despite challenges like altered breast tissue and hesitancy towards mammography. If no alternatives exist, whole-breast ultrasound can be used. For lactating and postpartum women, a regular screening routine alternating between mammography and MRI is recommended.

Breast cancer diagnosed after age 70 years in Israeli BRCA1/BRCA2 pathogenic sequence variant carriers: a single institution experience.

PURPOSE: A semi-annual surveillance scheme from age 25 to 30 years is offered to BRCA1/BRCA2 pathogenic sequence variants (PSVs) carriers for early detection of breast cancer (BC). There is a paucity of data on the yield of adhering to this scheme beyond 70 years of age. METHODS: Female BRCA1/BRCA2 PSV carriers followed at the Meirav high-risk clinic, Sheba Medical center, Israel were eligible. Type and frequencies if use of Imaging modalities, breast biopsies and histological outcomes for participants after age 70 years were retrieved and analyzed. RESULTS: Overall, the study encompassed 88 consenting participants (46 BRCA1 carriers) mean age ± SD 73.7 ± 3.3 years (range 70-90 years), followed for an average of 3.8 years (range 1-11 years). Ten carriers (11.3%) were diagnosed with BC after age 70 years (mean age at diagnosis 72 ± 2 years) and an additional case was diagnosed with breast lymphoma. The imaging modality that has led to most diagnoses was MRI (8/11 cases). Eight of these ten cases were previously diagnosed with BC prior to age 70 and in six, BC past 70 years was in the contralateral breast. The lesions size averaged 1.29 ± 0.75 cm, with IDC and DCIS diagnosed in five cases each, and none had lymph node involvement. CONCLUSION: In ~10% of BRCA1/BRCA2 PSV carriers BC is diagnosed by breast imaging after age 70 years. If these results are validated in a larger study, the guidelines for the maximum age for BC surveillance in high risk women should be revisited and set at 75 years.

Findings on emergent magnetic resonance imaging in pregnant patients with suspected appendicitis: A single center perspective.

This study's aim is to describe the imaging findings in pregnant patients undergoing emergent MRI for suspected acute appendicitis, and the various alternative diagnoses seen on those MRI scans. This is a single center retrospective analysis in which we assessed the imaging, clinical and pathological data for all consecutive pregnant patients who underwent emergent MRI for suspected acute appendicitis between April 2013 and June 2021. Out of 167 patients, 35 patients (20.9%) were diagnosed with acute appendicitis on MRI. Thirty patients (18%) were diagnosed with an alternative diagnosis on MRI: 17/30 (56.7%) patients had a gynecological source of abdominal pain (e.g. ectopic pregnancy, red degeneration of a leiomyoma); 8 patients (26.7%) had urological findings such as pyelonephritis; and 6 patients (20%) had gastrointestinal diagnoses (e.g. abdominal wall hernia or inflammatory bowel disease). Our conclusions are that MRI is a good diagnostic tool in the pregnant patient, not only in diagnosing acute appendicitis, but also in providing information on alternative diagnoses to acute abdominal pain. Our findings show the various differential diagnoses on emergent MRI in pregnant patients with suspected acute appendicitis, which may assist clinicians and radiologists is patient assessment and imaging utilization.

Magnetic resonance enterography in Crohn's disease patients: current state of the art and future perspectives.

INTRODUCTION: Crohn's disease (CD) is a major concern due to relatively high incidence and major complications like stricture or fistulas, often requiring surgical treatment. In recent years, magnetic resonance enterography (MRE) became a popular method of diagnosis and disease surveillance. The purpose of this review is to summarize and discuss the major and most recent advances in various aspects of MRE usage in diagnosong Crohn's disease, and to discuss advances in technique, disease activity monitoring and response to treatment. METHODS: A literature search was performed and relevant publications were included, with emphasis on articles from the past decade. AREAS COVERED: In this review we have presented articles with major advances in the field of MRE of CD patients such as proper sequence selection, recent advances in scoring of disease activity, differentiation between inflammation and fibrosis, response to treatment and technological advances such as the use of AI. EXPERT OPINION: The main goal in improving MRE performance will be sequence selection aimed at differenting between inflammation and stricture while shortening the study length adjusted to patient compliance, and developing a standardized scoring system for MRE reporting assisted by artificial intelligence.

A retrospective study on demographic and clinical characteristics of cutaneous leishmaniasis suspected cases in southern Israel, 2013-2016: Comparison between confirmed and negative cases.

BACKGROUND & OBJECTIVES: Clinical diagnosis of cutaneous leishmaniasis (CL) may bear a high rate of false diagnosis. This study assessed CL-suspected episodes, in an attempt to differentiate confirmed CL and non-CL diagnoses. METHODS: In this retrospective, case-control study, medical files of CL-suspected episodes, tested by a biopsy for Leishmania-PCR, from 2013 to 2016, were collected and analysed statistically. RESULTS: Of 324 suspected CL episodes, 48.8% were PCR-confirmed CL (96.2% Leishmania major) and 51.2% were non-CL (57.1% bacterial infections). Overall, 59.3% episodes were in males. Mean (± SD) duration until diagnosis was 3.7 ± 7.2 months. Lesions (mean 2.9 ± 3.8 per episode) were mostly (60.8%) sampled from September through February. Ulcer, pain, itching, purulent discharge and fever were recorded in 55.2, 47, 42.9, 18.2 and 4.7% of episodes, respectively. Univariate analysis showed that male gender, multiple lesions, ulcer, >1-month duration until diagnosis, and seasonality were associated with CL. Empiric CL treatment was recorded in 63.4 and 16% of CL-confirmed and non-CL episodes, respectively (p <0.001); and was observed to be associated with Jewish ethnicity, seasonality, multiple lesions, ulcer, absence of fever and duration of >1-month until diagnosis. In multivariate analysis, seasonality (odds ratio, OR = 2.144), empiric CL treatment (OR = 5.144) and ulcer (OR = 2.459) were associated with CL. Empiric CL treatment was associated with Jewish ethnicity (OR = 2.446) and duration of >1-month until diagnosis (OR = 3.304). INTERPRETATION & CONCLUSION: CL diagnosis should be laboratory confirmed, as clinical appearance is often misleading. Seasonality, ulcer appearance and gender may aid in correct identification and treatment of CL cases.