Hepatocellular adenoma with a double mutation  HNF1A  and  IDH1  in a patient with Ollier disease

2021 ◽  
Author(s):  
David Cappellen ◽  
Isabelle Catry‐Thomas ◽  
Claire Castain ◽  
Paulette Bioulac‐Sage
Keyword(s):  
Hepatocellular Adenoma ◽  
Double Mutation ◽  
Ollier Disease

scholarly journals The Double Mutation DSG2-p.S363X and TBX20-p.D278X Is Associated with Left Ventricular Non-Compaction Cardiomyopathy: Case Report

2021 ◽  
Vol 22 (13) ◽  
pp. 6775
Author(s):  
Roman Myasnikov ◽  
Andreas Brodehl ◽  
Alexey Meshkov ◽  
Olga Kulikova ◽  
Anna Kiseleva ◽  
...  
Keyword(s):  
Genetic Screening ◽  
Ventricular Dysfunction ◽  
Layer Structure ◽  
Left Ventricular ◽  
Cell Transfection ◽  
Nonsense Mutations ◽  
Double Mutation ◽  
T Box ◽  
Generation Sequencing

Left ventricular non-compaction cardiomyopathy (LVNC) is a rare heart disease, with or without left ventricular dysfunction, which is characterized by a two-layer structure of the myocardium and an increased number of trabeculae. The study of familial forms of LVNC is helpful for risk prediction and genetic counseling of relatives. Here, we present a family consisting of three members with LVNC. Using a next-generation sequencing approach a combination of two (likely) pathogenic nonsense mutations DSG2-p.S363X and TBX20-p.D278X was identified in all three patients. TBX20 encodes the cardiac T-box transcription factor 20. DSG2 encodes desmoglein–2, which is part of the cardiac desmosomes and belongs to the cadherin family. Since the identified nonsense variant (DSG2-p.S363X) is localized in the extracellular domain of DSG2, we performed in vitro cell transfection experiments. These experiments revealed the absence of truncated DSG2 at the plasma membrane, supporting the pathogenic relevance of DSG2-p.S363X. In conclusion, we suggest that in the future, these findings might be helpful for genetic screening and counseling of patients with LVNC.

Enhancement pattern of hepatocellular adenoma (HCA) on MR imaging performed with Gd-EOB-DTPA versus other Gd-based contrast agents (GBCAs): An intraindividual comparison

2019 ◽  
Vol 119 ◽  
pp. 108633 ◽  
Author(s):  
Roberto Cannella ◽  
Giuseppe Brancatelli ◽  
Balasubramanya Rangaswamy ◽  
Marta I. Minervini ◽  
Amir A. Borhani ◽  
...  
Keyword(s):  
Mr Imaging ◽  
Contrast Agents ◽  
Hepatocellular Adenoma ◽  
Enhancement Pattern ◽  
Intraindividual Comparison

scholarly journals Multidisciplinary management of the pregnant patient in haemorrhagic shock secondary to an undiagnosed ruptured liver adenoma

2020 ◽  
Vol 13 (2) ◽  
pp. e231995
Author(s):  
Brittany Sanford ◽  
Catherine Hoeppner ◽  
Tammy Ju ◽  
Brian K Theisen ◽  
Anna BuAbbud ◽  
...  
Keyword(s):  
General Surgery ◽  
Case Reports ◽  
Hepatocellular Adenoma ◽  
Multidisciplinary Care ◽  
Exploratory Laparotomy ◽  
Pregnant Patient ◽  
Haemorrhagic Shock ◽  
Liver Adenoma ◽  
Life Threatening ◽  
Temporary Closure

Management of a ruptured hepatocellular adenoma during pregnancy is a rare and potentially life-threatening entity. Few case reports have described management of the pregnant patient who presents in haemorrhagic shock secondary to a ruptured liver adenoma. A 30-year-old primigravid woman at 31 weeks pregnant presented with abdominal pain and fetal bradycardia. After stat caesarean delivery of the infant, she had continued hemoperitoneum and was in shock secondary to an undiagnosed ruptured liver mass. General surgery was consulted intraoperatively and performed an exploratory laparotomy, packing and temporary closure. She was subsequently taken to interventional radiology (IR) for angioembolisation of the left hepatic artery. After stabilisation, she underwent formal abdominal closure. Management of a ruptured hepatocellular adenoma in pregnancy requires urgent multidisciplinary care including obstetrics gynaecology, general surgery and IR.

Serum Amyloid A-Positive Hepatocellular Neoplasm: A New Type of Tumor Arising in Patients with Advanced Alcoholic Disease

2015 ◽  
Vol 33 (5) ◽  
pp. 648-654 ◽  
Author(s):  
Motoko Sasaki ◽  
Yasuni Nakanuma
Keyword(s):  
Hepatocellular Carcinoma ◽  
Liver Disease ◽  
Serum Amyloid A ◽  
Hepatocellular Adenoma ◽  
Clinicopathological Features ◽  
Serum Amyloid ◽  
Amyloid A ◽  
New Type ◽  
Strong Immunoreactivity ◽  
Alcoholic Disease

This chapter reviews a new type of hepatocellular neoplasm, serum amyloid A-positive hepatocellular neoplasm (SAA-HN), which arises in patients with advanced alcoholic liver disease such as cirrhosis. SAA-HNs share histological and immunohistochemical features with inflammatory hepatocellular adenoma, for example, a strong immunoreactivity for SAA. Clinicopathological features and issues regarding SAA-HN are reviewed with emphasis regarding its potential to develop into hepatocellular carcinoma.

Establishment and Characterization of a Nontumorigenic Cell Line Derived from a Human Hepatocellular Adenoma Expressing Hepatocyte-Specific Markers

1997 ◽  
Vol 236 (2) ◽  
pp. 418-426 ◽  
Author(s):  
Claudia Schleger ◽  
Rosario Heck ◽  
Fataneh Niketeghad ◽  
Peter Schirmacher ◽  
Svetlana Radaeva ◽  
...  
Keyword(s):  
Cell Line ◽  
Hepatocellular Adenoma

scholarly journals Multifocal intracranial astrocytoma in a pediatric patient with Ollier disease

2012 ◽  
Vol 22 (1) ◽  
pp. 58 ◽  
Author(s):  
Girish Bathla ◽  
KangOng Cheng ◽  
Sarika Gupta
Keyword(s):  
Pediatric Patient ◽  
Ollier Disease
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