Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

A patient with Simpson-Golabi-Behmel syndrome and hepatocellular carcinoma.

ABSTRACT: Simpson-Golabi-Behmel syndrome (SGBS) is an X linked disorder characterised by pre- and postnatal overgrowth, coarse facial features, and visceral and skeletal abnormalities. Like other overgrowth syndromes, in the SGBS there is an increased risk for developing neoplasia, mainly embryonic, such as Wilms tumour. We report a 3 year old male patient with SGBS and hepatocellular carcinoma, a previously undescribed tumour associated with the syndrome.

SUBMITTER: Lapunzina P

PROVIDER: S-EPMC1051222 | biostudies-other | 1998 Feb

REPOSITORIES: biostudies-other

ACCESS DATA

Json Xml

Publications

A patient with Simpson-Golabi-Behmel syndrome and hepatocellular carcinoma.

Lapunzina P P Badia I I Galoppo C C De Matteo E E Silberman P P Tello A A Grichener J J Hughes-Benzie R R

Journal of medical genetics 19980201 2

Simpson-Golabi-Behmel syndrome (SGBS) is an X linked disorder characterised by pre- and postnatal overgrowth, coarse facial features, and visceral and skeletal abnormalities. Like other overgrowth syndromes, in the SGBS there is an increased risk for developing neoplasia, mainly embryonic, such as Wilms tumour. We report a 3 year old male patient with SGBS and hepatocellular carcinoma, a previously undescribed tumour associated with the syndrome. ...[more]

PMID: 9507397

Similar Datasets

Patient Preferences for Hepatocellular Carcinoma Surveillance Parameters.

Project description:Background and aimsProfessional societies recommend abdominal ultrasound (US) with or without alpha fetoprotein (AFP) for hepatocellular cancer (HCC) surveillance; however, there are several emerging surveillance modalities, including abbreviated MRI and blood-based biomarker panels. Most studies have focused on provider perspectives for surveillance logistics, but few have assessed patient preferences. We aimed to measure preferences among patients with cirrhosis regarding HCC surveillance modalities.MethodsWe conducted a choice-based conjoint survey to patients with cirrhosis at four institutions. Participants were provided 15 scenarios in which they were asked to choose surveillance modalities based on five test attributes: benefits, i.e. sensitivity for early HCC (range: 35-95%), physical harm, i.e. false positives requiring additional testing (range: 10-40%), financial harm, i.e. out-of-pocket costs (range: $10-100), test logistics and convenience, i.e. duration of testing (range: 10-60 min). Hierarchical Bayes discrete choice conjoint analysis was used to derive attribute importance, and preference shares were determined by simulation.ResultsIn total 91% (182/199) of approached patients consented to participate in the study and 98% (n=179) successfully completed the survey. Surveillance benefits (importance: 51.3%, 95%CI: 49.0-53.4%) were valued more than risk of physical harm (importance: 7.6%, 95%CI 7.0-8.2%), financial harm (importance: 15.2%, 95%CI 14.0-16.3%), convenience (importance: 9.3%, 95%CI 8.5-10.1%) and test logistics (importance: 16.7%, 95%CI 15.4-18.1%). Based on simulations including all possible tests, patients preferred abbreviated MRI (29.0%), MRI (23.3%), or novel blood-based biomarkers (20.9%) to ultrasound alone (3.4%) or with AFP (8.8%).ConclusionsPatients with cirrhosis prioritize early HCC detection over potential surveillance-related harms or inconvenience.

| S-EPMC9150784 | biostudies-literature

Expression profile in hepatocellular carcinoma patient paired tissues

Project description:This SuperSeries is composed of the SubSeries listed below.

2021-06-07 | GSE156088 | GEO

Understanding the patient experience in hepatocellular carcinoma: a qualitative patient interview study.

Project description:PurposeThis study aimed to elucidate the patient experience of hepatocellular carcinoma (HCC) to guide patient-centered outcome measurement in drug development.MethodsPatients with HCC participated in qualitative interviews to elicit disease-related signs/symptoms and impacts, using discussion guides developed from literature searches and discussions with oncologists. Interview participants rated the disturbance of their experiences (0-10 scale). A conceptual model was developed and mapped against patient-reported outcome (PRO) instruments identified from database reviews.ResultsInterviews were conducted with 25 individuals with HCC (68% were men; median age: 63 years; 12% Barcelona clinic liver cancer (BCLC) stage A; 32% stage B; and 56% stage C) in the USA. Fifty-one HCC-related concepts were identified from the interviews and were grouped into eight sign/symptom categories (eating behavior/weight changes; extremities [arms, legs]; fatigue and strength; gastrointestinal; pain; sensory; skin; other) and four impact categories (emotional; physical; cognitive function; other) for the conceptual model. The most prevalent and disturbing experiences across the disease stages were fatigue/lack of energy and emotional impacts such as frustration, fear, and depression. Abdominal pain and skin-related issues were particularly common and disturbing in individuals with HCC stage C. The EORTC QLQ-C30 and HCC18 were identified as commonly used PRO instruments in HCC studies and captured the relevant signs/symptoms associated with the patient experience.ConclusionPatients with HCC reported a range of signs/symptoms and impacts that negatively affect daily functioning and quality of life. Including PRO measures in HCC clinical trials can provide meaningful patient perspectives during drug development.

| S-EPMC8847294 | biostudies-literature

Reassessing hepatocellular carcinoma staging in a changing patient population.

Project description:Hepatocellular carcinoma (HCC) staging systems were developed using data predominantly from patients who had hepatitis and cirrhosis. Given the recent change in prevalence of viral hepatitis and cirrhosis at oncology centers, which has altered the natural history of HCC, we aimed at comparing the accuracy of HCC staging systems in patients with or without hepatitis and cirrhosis.A total of 438 patients were enrolled. Baseline clinicopathologic parameters, Barcelona Clinic Liver Cancer stage, Cancer of the Liver Italian Program score, TNM (6th edition) stage, Okuda stage, and Chinese University Prognostic Index score were prospectively obtained for all patients, and retrospectively analyzed. Kaplan-Meier analysis was used to determine overall survival (OS), Cox regression analyses were performed, and Harrell's Correspondence Index compared the staging systems' ability to predict OS duration. Subgroup analyses of patients with or without hepatitis or cirrhosis were performed.Median patient OS was 13.9 months; 165 patients (37.7%) had no cirrhosis and 256 patients (58.4%) had no hepatitis. Overall, all staging systems were significantly less predictive of OS in patients who did not have cirrhosis or hepatitis.Our results advocate the need to further stratify HCC based on cirrhosis and hepatitis status, which may change patient risk-stratification and, ultimately, treatment decisions.

| S-EPMC4060614 | biostudies-literature

Irreversible electroporation of hepatocellular carcinoma: patient selection and perspectives.

Project description:Irreversible electroporation (IRE) is a novel form of tissue ablation that uses high-current electrical pulses to induce pore formation of the cell lipid bilayer, leading to cell death. The safety of IRE for ablation of hepatocellular carcinoma (HCC) has been established. Outcome data for ablation of HCC by IRE are limited, but early results are encouraging and suggest equivalency to the outcomes obtained for thermal ablation for appropriately selected, small (<3 cm) tumors. Long-term oncologic efficacy and histopathologic response data have not been published, and therefore, application of IRE for the treatment of HCC should still be viewed with caution.

| S-EPMC5357069 | biostudies-literature

circRNA expression profile in hepatocellular carcinoma patient paired tissues

Project description:This study aimed to identify differential expression of circRNAs in hepatocellular carcinoma patient tissues.

2021-06-07 | GSE155949 | GEO

miRNA expression profile in hepatocellular carcinoma patient paired tissues

Project description:This study aimed to identify differential expression of miRNAs in hepatocellular carcinoma patient tissues and explore the function of miRNAs acting as sponge of circRNAs.

2021-06-07 | GSE156087 | GEO

Nontarget embolization complicating transarterial chemoembolization in a patient with hepatocellular carcinoma.

Project description:Nontarget embolization during transarterial chemoembolization, although infrequent, can be a serious complication. The authors describe a case of nontarget gastric embolization to the stomach after transarterial chemoembolization and describe the published incidence of nontarget embolization to various organs, its diagnosis, treatment, and possible outcomes.

| S-EPMC3193335 | biostudies-other

A Methylation-Based Signature Predicts Survival In Hepatocellular Carcinoma Patient

Project description:Epigenetic deregulation is a critical event in human malignancies. A number of DNA methylation markers are currently under evaluation as diagnostic and prognostic biomarkers for many cancers. However, its potential role in hepatocellular carcinoma (HCC) is under-explored. Aims: To develop a DNA methylation-based prognostic signature in surgically resected HCC Tumors from 224 HCC resected patients, 10 normal Liver individuals and 9 Cirrhotic patients were analyzed. Methylome profiling was done with Illumina HumanMethylation450 (485,000 CpG, 96% of known CpG islands). We selected probes in CpG islands located in promoters, hypermethylated (B value higher than 50%) in at least 5% of the tumors and hypomethylated (B value lower than 33%) in more than 90% of normal liver.

2015-02-13 | E-GEOD-56588 | biostudies-arrayexpress

Paraneoplastic Generalized Granuloma Annulare in a Patient with Hepatocellular Carcinoma.

Project description: Not available

| S-EPMC6029956 | biostudies-literature