Sharing genetic test results in Lynch syndrome: communication with close and distant relatives.

BACKGROUND & AIMS: Clinical genetic testing can help direct cancer screening for members of Lynch syndrome families; however, there is limited information about family communication of genetic test results. METHODS: A total of 174 probands who had genetic testing for Lynch syndrome were enrolled through 4 US cancer genetics clinics. Subjects were asked whether they had disclosed their genetic test results to first-, second-, and third-degree relatives. Univariate and multivariate analyses were used to identify clinical and demographic factors associated with informing immediate and extended family of genetic test results. RESULTS: One hundred seventy-one of 174 probands (98%; 95% confidence interval, 95%-100%) reported that they had disclosed their genetic test result to a first-degree relative. Communication of test results to other relatives occurred significantly less often, with only 109 of 162 (67%; 95% confidence interval, 59%-74%) subjects with second- or third-degree relatives sharing their results. Individuals with a pathogenic mutation were significantly more likely to inform distant relatives than were subjects with a negative or indeterminate test result (odds ratio, 2.49; 95% confidence interval, 1.14-5.40). Probands' age, sex, and cancer status did not influence communication of genetic test results. Lack of closeness and concerns that relatives would worry or not understand the implications of test results were the primary reasons for not sharing genetic test results. CONCLUSIONS: Most individuals who undergo genetic testing for Lynch syndrome share their test results with first-degree family members; however, these results reach more distant relatives significantly less often. Interventions to improve communication of genetic test results to members of the extended family are necessary to provide optimal cancer prevention care to at-risk families.

A Fixed Stricture on Routine Cross-sectional Imaging Predicts Disease-Related Complications and Adverse Outcomes in Patients with Crohn's Disease.

BACKGROUND: Patients with Crohn's disease (CD) typically undergo multiple cross-sectional imaging exams including computed tomography and magnetic resonance enterography during the course of their disease. The aim was to identify imaging findings that predict future disease-related poor outcomes. METHODS: This was a retrospective, case control study at a single tertiary center. Cases were CD patients diagnosed with complications (bowel obstruction, perforation, internal fistula, or abscess); controls were CD patients without complications. Two radiologists blinded to clinical outcomes, independently scored cross-sectional imaging examinations obtained before the complication. RESULTS: One hundred eight patients (67 F; 41 M) with CD (51 cases; 57 controls) were included. For the cases, 21 had internal fistulae, 15 had bowel obstructions, 13 had abdominal abscesses, and 2 developed bowel perforations. Patients with complications were more likely to have a fixed small bowel stricture on cross-sectional imaging (P = 0.01). A patient with a stricture and upstream dilatation was 3.4 times more likely to develop a complication in the next 2 years. When present in the setting of hypervascularity and/or evidence of active inflammation, the risk increased further to 15-fold. Cases were more likely to be active smokers (29% versus 12%, P = 0.033). Cases had more evidence of inflammation based on higher Harvey Bradshaw Index values and inflammatory biomarkers and lower hemoglobin values. CONCLUSIONS: Information from radiologic studies, especially the presence of fixed strictures, can predict future CD complications. These findings, along with smoking and ongoing inflammation, should alert the clinician to the possibility of future complications.

Computed tomography enterography findings correlate with tissue inflammation, not fibrosis in resected small bowel Crohn's disease.

BACKGROUND: It has become commonplace to categorize small intestinal Crohn's disease (CD) as "active" vs. "inactive" or "inflammatory" vs. "fibrotic" based on computed tomography enterography (CTE) findings. Data on histologic correlates of CTE findings are lacking. We aimed to compare CTE findings with histology from surgically resected specimens. We tested the hypothesis that CTE findings can distinguish tissue inflammation from fibrosis. METHODS: Patients who underwent CTE within 3 months before intestinal resection for CD were retrospectively studied. Radiologists blinded to history and histology scored findings on CTE. Pathologists blinded to history and imaging scored resected histology. We compared histology with CTE findings and radiologists assessment of whether the stricture was likely "active" or "inactive." RESULTS: In all, 22 patients met inclusion criteria. Inflammatory CTE findings correlated with histologic inflammation (rho = 0.52). Strictures believed to be "active" on CTE were more inflamed at histology (P = 0.0002). Strictures lacking inflammatory findings on CTE or considered "inactive" were not associated with greater histologic fibrosis or significant histologic inflammation. Upstream dilation was associated with greater tissue fibrosis in univariate (P = 0.014) but not in multivariate analysis (P = 0.53). Overall, histologic fibrosis correlated best with histologic inflammation (rho = 0.52). Strictures on CTE with the most active disease activity also had the most fibrosis on histology. CONCLUSIONS: CTE findings of mesenteric hypervascularity, mucosal hyperenhancement, and mesenteric fat stranding predict tissue inflammation. However, small bowel stricture without CTE findings of inflammation does not predict the presence of tissue fibrosis. Therefore, caution should be used when using CTE criteria to predict the presence of scar tissue.