Search results for "incidental finding"

Incidental findings in a series of 2500 gene panel tests for a genetic predisposition to cancer: Results and impact on patients.

2020

Abstract With next generation sequencing, physicians are faced with more complex and uncertain data, particularly incidental findings (IF). Guidelines for the return of IF have been published by learned societies. However, little is known about how patients are affected by these results in a context of oncogenetic testing. Over 4 years, 2500 patients with an indication for genetic testing underwent a gene cancer panel. If an IF was detected, patients were contacted by a physician/genetic counsellor and invited to take part in a semi-structured interview to assess their understanding of the result, the change in medical care, the psychological impact, and the transmission of results to the f…

Next-generation sequencing in clinical practice: from the patients' preferences to the informed consent process

2016

International audience

WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Datab…

2016

International audience; High-throughput next-generation sequencing such as whole-exome and whole-genome sequencing are being rapidly integrated into clinical practice. The use of these techniques leads to the identification of secondary variants for which decisions about the reporting or not to the patient need to be made. The American College of Medical Genetics and Genomics recently published recommendations for the reporting of these variants in clinical practice for 56 "actionable" genes. Among these, seven are involved in Marfan Syndrome And Related Disorders (MSARD) resulting from mutations of the FBN1, TGFBR1 and 2, ACTA2, SMAD3, MYH11 and MYLK genes. Here, we show that mutations col…

Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literature

2019

IF 2.004 (2017); International audience; With the development of next generation sequencing, beyond identifying the cause of manifestations that justified prescription of the test, other information with potential interest for patients and their families, defined as secondary findings (SF), can be provided once patients have given informed consent, in particular when therapeutic and preventive options are available. The disclosure of such findings has caused much debate. The aim of this work was to summarize all opinion-based studies focusing on SF, so as to shed light on the concerns that this question generate. A review of the literature was performed, focusing on all PubMed articles repo…

FOCAL ACTIVE COLITIS AS A PREDICTOR OF INFLAMMATORY BOWEL DISEASE: RESULTS FROM A SINGLE-CENTER EXPERIENCE.

2017

The term focal active colitis (FAC) is conventionally used to describe the presence of isolated cryptitis, characterized by an inflammatory infiltrate consisting of intraepithelial neutrophils and/or neutrophils invading the lumen of the criptae, with no other microscopic alteration of the colonic mucosa and, in particular, without the presence of signs of chronic inflammation. To date, only four studies, including one conducted in a pediatric population, have been performed to evaluate the clinical significance of this disease. The aim of this retrospective study on prospectively-collected data is to evaluate the clinical implications of the focal active colitis, since there still remains …

Potential clinical value of quantitative fluorine-18-fluorodeoxyglucose-PET/computed tomography using a graph-based method analysis in evaluation of …

2019

Objectives To identify the clinical relevance of incidentally detected lesions (IDLs) in the gastrointestinal tract (GIT) with 18F-FDG PET/CT and to assess the potential benefit of using semiquantitative PET measures to discern malignant from benign lesions. Methods Forty-one patients who underwent F-FDG PET/CT scans during the oncologic follow-up, revealing abnormal incidental 18F-FDG accumulations in the GIT were included in this retrospective analysis. Incidental PET/CT findings were correlated with endoscopic and histological findings. Semiquantitative PET values (SUVmax, SUVmean, SULpeak, and TLG) were evaluated by using a new graph-based method. Two sample t-test analysis has been per…

Incidental Detection of a Giant Right Coronary Artery Aneurysm

2013

Characterization of Small Incidental Indeterminate Hypoattenuating Hepatic Lesions: Added Value of Single-Phase Contrast-Enhanced Dual-Energy CT Mate…

2018

OBJECTIVE. The objective of this study is to determine whether single-phase contrast-enhanced dual-energy CT (DECT) material attenuation analysis improves the characterization of small (< 2.0 cm) incidental indeterminate hypoattenuating hepatic lesions, compared with conventional single-energy CT evaluation. MATERIALS AND METHODS. This retrospective study involved 55 patients (24 men and 31 women; mean [± SD] age, 63.9 ± 15.3 years) with 77 incidental hypoattenuating hepatic lesions (59 benign and 18 malignant lesions) measuring 0.5–2.0 cm who underwent single-phase contrast-enhanced DECT of the abdomen for pain. For each lesion, attenuation measurements were obtained using blended 120-k…

Prevalence and clinical significance of incidental findings on multiparametric prostate MRI.

2019

Purpose: To assess the prevalence and clinical significance of incidental findings (IFs) detected at multiparametric prostate MRI examination. Materials and methods: Multiparametric prostate MRIs of 647 consecutive patients (mean age 67.1 ± 8.0 years) were retrospectively evaluated by two radiologists recording the presence of all extra-prostatic IFs. Findings were classified as related to or not related to genitourinary system and divided into three classes, according to their clinical significance, as follows: group 1, not significant or scarcely significant; group 2, moderately or potentially significant; and group 3, significant. Differences in distribution of IFs between patients ≤ 65 …

Papillary Thyroid microcarcinomas: a comparative study of the characteristics and risk factors at presentation in two cancer registries

2013

Papillary thyroid microcarcinoma (PTMC) is an indolent neoplasia, often asymptomatic and discovered incidentally. Some PTMCs, however, exhibit a more aggressive behavior, frequently recur, and can even cause cancer-related death.The aim of this study was to evaluate the prevalence of PTMCs and the associated risk factors at presentation in 2 thyroid cancer registries from areas with different genetic and environmental characteristics.We conducted a retrospective, observational study of all incident cases of PTMCs recorded over a 5-year period in the Sicilian Regional Registry for Thyroid Cancer (SRRTC) and in the Surveillance Epidemiology and End Results (SEER) US registry.The study took pl…