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BACKGROUND: High-risk surveillance for patients with Li-Fraumeni syndrome (LFS) has shown a stage shift and improved overall survival, but is demanding. Our objective was to evaluate surveillance adherence in a population of patients with LFS presenting for high-risk care. METHODS: A retrospective analysis of surveillance adherence of adult patients with LFS at a single institution was performed. Adherence was defined by the duration from initial University of Virginia (UVA) LFS clinic visit to the time of first missed surveillance test. Two-sample t-tests and ANOVA tests were used to identify factors associated with duration of adherence. RESULTS: A total of 42 patients were evaluated in the UVA LFS clinic between 2017 and 2021. Of these, 21 patients met inclusion criteria. At the time of review, 6 patients (29%) were up to date with high-risk surveillance recommendations. The mean duration of adherence was 17 months. Female sex was found to be associated with longer duration of adherence (mean 21 mo vs. 3.5 mo for males, p = 0.02). A personal history or active diagnosis of cancer was also associated with increased adherence (p = 0.02). However, neither age (p = 0.89), geography (p = 0.84), or known family history of LFS (p = 0.08) were associated with duration of adherence. CONCLUSION: Female sex as well as a personal history of cancer were associated with longer duration of adherence to recommended high-risk surveillance among patients with LFS. Identification of barriers to surveillance will be essential moving forward to increase adherence and promote early detection of cancer, thereby reducing the morbidity and mortality of LFS.
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Vulvar cancer remains a rare entity and treatment options for advanced disease are limited. This case report highlights the excellent response of two patients with FIGO Stage IV vulvar cancer treated with neoadjuvant paclitaxel/carboplatin/bevacizumab chemotherapy. While definitive conclusions are impossible, neoadjuvant chemotherapy may ultimately prove to be a better initial treatment option for locally advanced disease in terms of quality of life and response compared to the traditional chemoradiation regimens.
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Small cell carcinoma of the ovary, hypercalcemic type is a rare, aggressive, and typically fatal ovarian cancer that primarily affects young women less than 40 years of age. It is caused by a pathogenic variant in the SMARCA4 gene, with nearly half of patients found to have germline pathogenic variants and the remainder demonstrating somatic SMARCA4 pathogenic variants. This case report discusses an illustrative case and explores the existing data and potential recommendations to optimize timing of genetic testing in family members, given the presence of a familial germline pathogenic variant.
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PURPOSE: To evaluate the diagnostic performance of contrast material-enhanced magnetic resonance (MR) imaging for distinguishing paraduodenal pancreatitis (PDP) from pancreatic head duct adenocarcinoma (CA) in patients with diagnoses confirmed by histopathologic analysis. MATERIALS AND METHODS: This retrospective study was approved by the institutional review board and is HIPAA compliant. Between July 2007 and July 2010, 47 patients who underwent Whipple procedure and MR imaging less than 60 days before surgery were identified retrospectively. Two relatively inexperienced fellowship trainees with 9 months of body fellowship training were asked to record the presence or absence of three MR imaging features: focal thickening of the second portion of the duodenum; abnormal enhancement of the second portion of the duodenum; and cystic focus in the expected region of the accessory pancreatic duct. Strict criteria for diagnosis of PDP included presence of all three imaging features. Any case that did not fulfill the criteria was classified as CA. Sensitivity, specificity, positive predictive value, and negative predictive value for characterization of PDP was calculated for each reader with 95% confidence intervals. A κ test assessed level of agreement between readers. RESULTS: Each reader correctly categorized 15 of 17 (88.2%) PDP cases when all three imaging criteria were met. Alternatively, 26 of 30 (86.7%) pancreatic duct CA were correctly categorized as inconsistent with PDP. Four patients with histopathologic diagnosis of CA were incorrectly classified as PDP by each reader. Agreement between the two readers showed substantial κ agreement for the diagnosis of PDP and differentiation from pancreatic duct CA. CONCLUSION: Contrast-enhanced MR imaging may help accurately identify PDP and distinguish it from CA when strict diagnostic criteria are followed. SUPPLEMENTAL MATERIAL: http://radiology.rsna.org/lookup/suppl/doi:10.1148/radiol.13112056/-/DC1.
