Assessment of focal liver lesions in non-cirrhotic liver – expert opinion statement by the Swiss Association for the Study of the Liver and the Swiss Society of Gastroenterology

Focal liver lesions are common, with a prevalence up to 20%. The lesions must be evaluated in context of risk factors associated with malignancy. Risk factors include age >40 years, known current or past malignancy, presence of liver cirrhosis or chronic liver disease (i.e. suspected by elevated liver elastography measurement ≥8 kPa or FIB-4 score ≥1.3), unintentional weight loss, fever or night sweats, newly detected focal liver lesions, documented growth of focal liver lesions, current or past use of androgens (e.g. testosterone, oxymetholone, danazol), increased serum tumour markers (i.e. alpha-fetoprotein, carbohydrate antigen 19-9 [CA19-9], carcinoembryonic antigen [CEA]) and family history of malignancy. In patients without risk factors of malignancy, regional (non-)fatty changes, simple liver cysts and typical haemangiomas can be diagnosed by conventional ultrasound (without contrast). Conventional ultrasound Doppler is recommended to rule out vascular malformations such as portosystemic shunts. In all other cases of focal liver lesions, contrast-enhanced imaging is indicated for differentiation in benign and malignant dignity. Contrast-enhanced ultrasound (CEUS) as a first diagnostic step and contrast-enhanced magnetic resonance imaging (MRI) are accurate tests to diagnose haemangioma and focal nodular hyperplasia. Hepatocellular adenoma is diagnosed by contrast-enhanced MRI and/or histology. “Wash out” on CEUS is highly suspicious for a malignant focal liver lesion. Additional investigations aimed at identifying the primary tumour, as well as staging-computed tomography, MRI and/or histology may be necessary and should be decided on a case-by-case basis. A biopsy of focal liver lesions is indicated in cases of unclear dignity, malignant aspect and focal liver lesions of unclear origin as well as for guiding surgical and oncological management

Ultrasound Doppler technique for the diagnosis of focal nodular hyperplasia - case series and systematic review.

With the Superb Micro-Vascular Imaging (SMI), the established Doppler technology has been extended by another mode. With this technique, microvascular structures with slow blood flow can now also be displayed in real time. As with the introduction of Doppler ultrasound, this new technique opens further diagnostic fields for the examiner, which were previously reserved for magnetic resonance imaging (MRI), computed tomography (CT) or contrast ultrasound (CEUS). Focal nodular hyperplasia (FNH) of the liver is characterized by a typical spoke-wheel vascular malformation (spoke-wheel sign, SWS) anda good example using SMI for the diagnostic profit of our patients. The aim of this report is to describe the use of SMI as a new non-invasive, quick, and probably cost-effective diagnostic imaging tool

Contrast-enhanced ultrasound can guide the therapeutic strategy by improving the detection of colorectal liver metastases.

BACKGROUND & AIMS CT may miss up to 30% of cases of colorectal liver metastases (CRLMs). We assessed the impact of contrast-enhanced ultrasound (CEUS) on the detection of CRLMs and on changes to the therapeutic strategy; additionally, we assessed the accuracy of CEUS in differentiating unclear focal liver lesions (FLLs) compared to staging-CT. METHODS We prospectively analyzed all patients with newly diagnosed and histologically confirmed colorectal cancer (CRC) at our tertiary gastroenterological center between December 2015 and May 2019. CEUS was performed in a total of 296 patients without CRLMs after staging-CT using the contrast agent (SonoVue®). Standard of reference was obtained by MRI or histology to diagnose CRLMs missed by CT. Benign FLLs were confirmed by MRI or follow-up CT (mean follow-up interval: 18 months). RESULTS Eight additional CRLMs were detected by CEUS (overall 2.7%; sensitivity 88.9%, specificity 99.0%, positive predictive value 100%, negative predictive value 99.6%). All patients with CRLMs detected only by CEUS were in tumor stage T3/T4 (4.0% additionally detected CRLMs). The number needed to screen to detect 1 additional CRLM by CEUS was 37 in all patients and 24.5 in T3/T4-patients. When results were reviewed by a board-certified radiologist and oncologist, the therapeutic strategy changed in 6 of these 8 patients. Among the 62 patients (20.9%) with unclear FLLs after staging-CT, CEUS determined the dignity (malignant vs. benign) of 98.4% of the FLLs. CONCLUSION Overall, CEUS detected 2.7% additional CRLMs (including 4.0% in tumor stage T3/T4) with a significant impact on the oncological therapeutic strategy for 75% of these patients. Patients with tumor stage T3/T4 would particularly benefit from CEUS. We propose CEUS as the first imaging modality for CT-detected lesions of unknown dignity. LAY SUMMARY In patients with newly diagnosed colorectal cancer, contrast-enhanced ultrasound (CEUS) detected additional liver metastases after computed tomography (CT). In the majority of these patients, the oncological therapy was changed after obtaining the CEUS results. After staging-CT, 21% of hepatic lesions remained unclear. In these cases, CEUS was accurate to either reveal or exclude liver metastasis in nearly all patients and could reduce costs (e.g., number of MRI scans)

Cohort Profile: The Swiss Eosinophilic Esophagitis Cohort Study (SEECS).

The prospective, observational Swiss Eosinophilic Esophagitis Cohort Study (SEECS) was set up in 2015 with the following goals in mind: (1) to provide up-to-date epidemiologic data; (2) to assess the appropriateness of care; (3) to evaluate the psychosocial impact; and (4) to foster translational research projects. Data capture relies on validated instruments to assess disease activity and focuses on epidemiologic variables and biosamples (esophageal biopsies and blood specimens). An annual inclusion of 70 new patients with eosinophilic esophagitis (EoE) or proton pump inhibitor-responsive esophageal eosinophilia (PPI-REE) is intended. We herein describe the SEECS cohort profile. The SEECS includes adult patients (age ≥18 years) with EoE or PPI-REE diagnosed according to published criteria. After inclusion, the patients are typically seen once a year for a clinical and endoscopic/histologic follow-up examination. Data are captured using validated questionnaires. Biosamples from patients with gastroesophageal reflux disease (GERD) and controls with a healthy esophagus are collected as well. From January 2016 to July 2017, a total of 111 patients with EoE and 10 patients with PPI-REE were recruited. In addition, esophageal biopsies and blood samples from 11 patients with GERD and 20 controls with a healthy esophagus were collected. The mean age of the patients with EoE and those with PPI-REE was 39.6 ± 12.9 and 44.6 ± 15.6 years, respectively. A male predominance was found among both the patients with EoE (77.5%) and those with PPI-REE (70%). Concomitant allergic disorders were found in 79.3% of the patients with EoE and 90% of the patients with PPI-REE. At inclusion, the EoE patients were treated with the following therapeutic regimens: no therapy (0.9%), PPI (36%), swallowed topical corticosteroids (82.9%), elimination diets (15.3%), and esophageal dilation (19.8%). The SEECS is the first national cohort study of patients with EoE or PPI-REE. The SEECS will provide up-to-date epidemiologic data and foster translational research projects

Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease

Very-early-onset inflammatory bowel disease (VEO-IBD) is a heterogeneous phenotype associated with a spectrum of rare Mendelian disorders. Here, we perform whole-exome-sequencing and genome-wide genotyping in 145 patients (median age-at-diagnosis of 3.5 years), in whom no Mendelian disorders were clinically suspected. In five patients we detect a primary immunodeficiency or enteropathy, with clinical consequences (XIAP, CYBA, SH2D1A, PCSK1). We also present a case study of a VEO-IBD patient with a mosaic de novo, pathogenic allele in CYBB. The mutation is present in ~70% of phagocytes and sufficient to result in defective bacterial handling but not life-threatening infections. Finally, we show that VEO-IBD patients have, on average, higher IBD polygenic risk scores than population controls (99 patients and 18,780 controls; P < 4 × 10-10), and replicate this finding in an independent cohort of VEO-IBD cases and controls (117 patients and 2,603 controls; P < 5 × 10-10). This discovery indicates that a polygenic component operates in VEO-IBD pathogenesis