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J. M. Sharp - One of the best experts on this subject based on the ideXlab platform.
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epithelial tumour cells in the lungs of sheep with pulmonary Adenomatosis are major sites of replication for jaagsiekte retrovirus
Journal of General Virology, 1995Co-Authors: Massimo Palmarini, Patricia Dewar, M De Las Heras, N F Inglis, Robert G Dalziel, J. M. SharpAbstract:Sheep pulmonary Adenomatosis (SPA) is a naturally occurring contagious lung tumour of sheep which has been associated aetiologically with a type D- and B- related retrovirus (Jaagsiekte retrovirus; JSRV). To improve understanding of the aetio-pathogenesis of SPA, the distribution and the sites of JSRV replication in sheep with naturally or experimentally induced SPA or in unaffected controls were identified. New immunological reagents were produced and a blocking enzymelinked immunosorbent assay (B-ELISA) and an immunohistochemical technique for the detection of JSRV major capsid protein at the tissue and cellular levels were developed. JSRV was detected only in the respiratory tract of sheep affected by pulmonary Adenomatosis and specifically in the transformed epithelial cells of the alveoli of SPA-affected sheep.
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Sheep Pulmonary Adenomatosis: Studies on Its Aetiology
Maedi-Visna and Related Diseases, 1990Co-Authors: J. M. Sharp, K. W. AngusAbstract:Sheep pulmonary Adenomatosis (SPA) is a contagious lung tumour that can be transmitted experimentally. Two viruses have been associated with the disease, a herpesvirus and a retrovirus.
Armelle Fatome - One of the best experts on this subject based on the ideXlab platform.
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hepatocyte nuclear factor 1α gene inactivation cosegregation between liver Adenomatosis and diabetes phenotypes in two maturity onset diabetes of the young mody 3 families
The Journal of Clinical Endocrinology and Metabolism, 2004Co-Authors: Yves Reznik, Emmanuelle Jeannot, Thong Dao, Regis Coutant, Laurence Chiche, Severine Clauin, Pierre Rousselot, Monique Fabre, Frederic Oberti, Armelle FatomeAbstract:Heterozygous germline mutations of the hepatocyte nuclear factor (HNF)-1 alpha are associated with maturity-onset diabetes of the young (MODY)3. Recently, the biallelic inactivation of the HNF-1 alpha gene was reported in liver adenomas. We show the occurrence of liver Adenomatosis in six MODY3-affected patients from two unrelated and large families. Liver Adenomatosis was characterized by the presence of numerous adenomas within a normal hepatic parenchyma. The HNF-1 alpha hot-spot germline mutation P291fs was identified in the two probands and in 16 relatives from the two families. The six patients affected by liver Adenomatosis and diabetes exhibited the mutation. The analysis of liver-cell tumors from two affected patients evidenced the biallelic inactivation of HNF-1 alpha. The familial screening confirmed the clinical heterogeneity of the liver phenotype, from silent liver Adenomatosis to fatal hemorrhage. These observations warrant the systematic screening for liver Adenomatosis in MODY3 families to prevent its potentially deadly complications. Moreover, such screening may help to determine if a particular mutational spectrum of HNF-1 alpha is associated with liver Adenomatosis and to establish its prevalence in this frequent form of diabetes in the young adult.
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hepatocyte nuclear factor 1α gene inactivation cosegregation between liver Adenomatosis and diabetes phenotypes in two maturity onset diabetes of the young mody 3 families
The Journal of Clinical Endocrinology and Metabolism, 2004Co-Authors: Yves Reznik, Emmanuelle Jeannot, Regis Coutant, Laurence Chiche, Severine Clauin, Pierre Rousselot, Monique Fabre, Frederic Oberti, Armelle Fatome, Jessica ZucmanrossiAbstract:Heterozygous germline mutations of the hepatocyte nuclear factor (HNF)-1α are associated with maturity-onset diabetes of the young (MODY)3. Recently, the biallelic inactivation of the HNF-1α gene was reported in liver adenomas. We show the occurrence of liver Adenomatosis in six MODY3-affected patients from two unrelated and large families. Liver Adenomatosis was characterized by the presence of numerous adenomas within a normal hepatic parenchyma. The HNF-1α hot-spot germline mutation P291fs was identified in the two probands and in 16 relatives from the two families. The six patients affected by liver Adenomatosis and diabetes exhibited the mutation. The analysis of liver-cell tumors from two affected patients evidenced the biallelic inactivation of HNF-1α. The familial screening confirmed the clinical heterogeneity of the liver phenotype, from silent liver Adenomatosis to fatal hemorrhage. These observations warrant the systematic screening for liver Adenomatosis in MODY3 families to prevent its potent...
Yves Reznik - One of the best experts on this subject based on the ideXlab platform.
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hepatocyte nuclear factor 1α gene inactivation cosegregation between liver Adenomatosis and diabetes phenotypes in two maturity onset diabetes of the young mody 3 families
The Journal of Clinical Endocrinology and Metabolism, 2004Co-Authors: Yves Reznik, Emmanuelle Jeannot, Thong Dao, Regis Coutant, Laurence Chiche, Severine Clauin, Pierre Rousselot, Monique Fabre, Frederic Oberti, Armelle FatomeAbstract:Heterozygous germline mutations of the hepatocyte nuclear factor (HNF)-1 alpha are associated with maturity-onset diabetes of the young (MODY)3. Recently, the biallelic inactivation of the HNF-1 alpha gene was reported in liver adenomas. We show the occurrence of liver Adenomatosis in six MODY3-affected patients from two unrelated and large families. Liver Adenomatosis was characterized by the presence of numerous adenomas within a normal hepatic parenchyma. The HNF-1 alpha hot-spot germline mutation P291fs was identified in the two probands and in 16 relatives from the two families. The six patients affected by liver Adenomatosis and diabetes exhibited the mutation. The analysis of liver-cell tumors from two affected patients evidenced the biallelic inactivation of HNF-1 alpha. The familial screening confirmed the clinical heterogeneity of the liver phenotype, from silent liver Adenomatosis to fatal hemorrhage. These observations warrant the systematic screening for liver Adenomatosis in MODY3 families to prevent its potentially deadly complications. Moreover, such screening may help to determine if a particular mutational spectrum of HNF-1 alpha is associated with liver Adenomatosis and to establish its prevalence in this frequent form of diabetes in the young adult.
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hepatocyte nuclear factor 1α gene inactivation cosegregation between liver Adenomatosis and diabetes phenotypes in two maturity onset diabetes of the young mody 3 families
The Journal of Clinical Endocrinology and Metabolism, 2004Co-Authors: Yves Reznik, Emmanuelle Jeannot, Regis Coutant, Laurence Chiche, Severine Clauin, Pierre Rousselot, Monique Fabre, Frederic Oberti, Armelle Fatome, Jessica ZucmanrossiAbstract:Heterozygous germline mutations of the hepatocyte nuclear factor (HNF)-1α are associated with maturity-onset diabetes of the young (MODY)3. Recently, the biallelic inactivation of the HNF-1α gene was reported in liver adenomas. We show the occurrence of liver Adenomatosis in six MODY3-affected patients from two unrelated and large families. Liver Adenomatosis was characterized by the presence of numerous adenomas within a normal hepatic parenchyma. The HNF-1α hot-spot germline mutation P291fs was identified in the two probands and in 16 relatives from the two families. The six patients affected by liver Adenomatosis and diabetes exhibited the mutation. The analysis of liver-cell tumors from two affected patients evidenced the biallelic inactivation of HNF-1α. The familial screening confirmed the clinical heterogeneity of the liver phenotype, from silent liver Adenomatosis to fatal hemorrhage. These observations warrant the systematic screening for liver Adenomatosis in MODY3 families to prevent its potent...
Laurence Chiche - One of the best experts on this subject based on the ideXlab platform.
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Repeat surgery in HNF1alpha-inactivated Adenomatosis.
Clinics and Research in Hepatology and Gastroenterology, 2019Co-Authors: Charles Balabaud, Christophe Laurent, Laurence Chiche, Nora Frulio, Paul Marie Christine, Brigitte Le Bail, Laurent Possenti, Jean Frédéric Blanc, Paulette Bioulac-sageAbstract:Summary Background and aims Stopping oral contraceptives following nodule detection usually prevents further hepatocellular growth (HCA); rare cases of growth have been reported after surgery. The aim of the study was to review our resected HCA cases and their outcomes and more specifically, growth. Methods We retrieved all HCA cases that required a second intervention and HCA growth cases of none resected HCA after resection of one or several HCAs. Results Out of the 210 resected classified HCA cases, a second resection was performed in 5 cases, 4 of which were in women with HNF1alpha-inactivated Adenomatosis (H-Adenomatosis) and had a favorable outcome. The fifth case was the occurrence of an inflammatory HCA, 3 years after resection of a previous one. Of the 65 resected HNF1-inactivated HCAs (H-HCAs), the nodules that remained continued to increase very slowly in 3 Adenomatosis cases. After surgery, the liver became dysmorphic years later in one case, and the nodules grew but not significantly in another case. After the diagnosis of Adenomatosis, progressive growth leads to surgery 12 years later in the last case. Conclusion These results confirm that, in rare H-Adenomatosis, size of nodules may increase very slowly, probably in part through coalescence of micro H-HCAs and leading occasionally to a second resection.
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Liver transplantation for Adenomatosis: European experience.
Liver Transplantation, 2016Co-Authors: Laurence Chiche, Jan Lerut, Anaelle David, René Adam, Martin Oliverius, Jürgen Klempnauer, Eric Vibert, Michele Colledan, V. Vincenzo Mazzafero, Stefano Di-sandroAbstract:The aim of this study was to collect data from patients who underwent liver transplantation (LT) for Adenomatosis; to analyze the symptoms, the characteristics of the disease, and the recipient outcomes; and to better define the role of LT in this rare indication. This retrospective multicenter study, based on data from the European Liver Transplant Registry, encompassed patients who underwent LT for Adenomatosis between January 1, 1986, and July 15, 2013, in Europe. Patients with glycogen storage disease (GSD) type IA were not excluded. This study included 49 patients. Sixteen patients had GSD, and 7 had liver vascular abnormalities. The main indications for transplantation were either a suspicion of hepatocellular carcinoma (HCC; 15 patients) or a histologically proven HCC (16 patients), but only 17 had actual malignant transformation (MT) of adenomas. GSD status was similar for the 2 groups, except for age and the presence of HCC on explants (P = 0.030). Three patients with HCC on explant developed recurrence after transplantation. We obtained and studied the pathomolecular characteristics for 23 patients. In conclusion, LT should remain an extremely rare treatment for Adenomatosis. Indications for transplantation primarily concern the MT of adenomas. The decision should rely on morphological data and histological evidence of MT. Additional indications should be discussed on a case-by-case basis. In this report, we propose a simplified approach to this decision-making process.
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Hepatocellular Adenomatosis: what should the term stand for!
Clinics and Research in Hepatology and Gastroenterology, 2013Co-Authors: Nora Frulio, Laurence Chiche, Paulette Bioulac-sage, Charles BalabaudAbstract:Summary In 1985, Adenomatosis, a term coined to mean ten or more nodules, was considered as a specific entity different from hepatocellular adenoma (HCA) whether single or multiple. In the 2000s the term has lost its individuality. The great contribution of the classification was to clearly demonstrate that in all hepatocellular subtypes and in particular etiologies such as glycogenosis and male hormone administration, HCA could be solitary, multiple ( 10: Adenomatosis). Management of hepatocellular Adenomatosis may not be different from solitary or multiple HCA. To keep its specificity in terms of management and prognosis compared to solitary or multiple HCA, it is necessary to indicate the number of nodules including the combination of three parameters: size, location and subtypes. When the classical armentarium to treat nodules is not possible or too risky, embolization or liver transplantation remains the only therapeutic options.
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hepatocyte nuclear factor 1α gene inactivation cosegregation between liver Adenomatosis and diabetes phenotypes in two maturity onset diabetes of the young mody 3 families
The Journal of Clinical Endocrinology and Metabolism, 2004Co-Authors: Yves Reznik, Emmanuelle Jeannot, Thong Dao, Regis Coutant, Laurence Chiche, Severine Clauin, Pierre Rousselot, Monique Fabre, Frederic Oberti, Armelle FatomeAbstract:Heterozygous germline mutations of the hepatocyte nuclear factor (HNF)-1 alpha are associated with maturity-onset diabetes of the young (MODY)3. Recently, the biallelic inactivation of the HNF-1 alpha gene was reported in liver adenomas. We show the occurrence of liver Adenomatosis in six MODY3-affected patients from two unrelated and large families. Liver Adenomatosis was characterized by the presence of numerous adenomas within a normal hepatic parenchyma. The HNF-1 alpha hot-spot germline mutation P291fs was identified in the two probands and in 16 relatives from the two families. The six patients affected by liver Adenomatosis and diabetes exhibited the mutation. The analysis of liver-cell tumors from two affected patients evidenced the biallelic inactivation of HNF-1 alpha. The familial screening confirmed the clinical heterogeneity of the liver phenotype, from silent liver Adenomatosis to fatal hemorrhage. These observations warrant the systematic screening for liver Adenomatosis in MODY3 families to prevent its potentially deadly complications. Moreover, such screening may help to determine if a particular mutational spectrum of HNF-1 alpha is associated with liver Adenomatosis and to establish its prevalence in this frequent form of diabetes in the young adult.
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hepatocyte nuclear factor 1α gene inactivation cosegregation between liver Adenomatosis and diabetes phenotypes in two maturity onset diabetes of the young mody 3 families
The Journal of Clinical Endocrinology and Metabolism, 2004Co-Authors: Yves Reznik, Emmanuelle Jeannot, Regis Coutant, Laurence Chiche, Severine Clauin, Pierre Rousselot, Monique Fabre, Frederic Oberti, Armelle Fatome, Jessica ZucmanrossiAbstract:Heterozygous germline mutations of the hepatocyte nuclear factor (HNF)-1α are associated with maturity-onset diabetes of the young (MODY)3. Recently, the biallelic inactivation of the HNF-1α gene was reported in liver adenomas. We show the occurrence of liver Adenomatosis in six MODY3-affected patients from two unrelated and large families. Liver Adenomatosis was characterized by the presence of numerous adenomas within a normal hepatic parenchyma. The HNF-1α hot-spot germline mutation P291fs was identified in the two probands and in 16 relatives from the two families. The six patients affected by liver Adenomatosis and diabetes exhibited the mutation. The analysis of liver-cell tumors from two affected patients evidenced the biallelic inactivation of HNF-1α. The familial screening confirmed the clinical heterogeneity of the liver phenotype, from silent liver Adenomatosis to fatal hemorrhage. These observations warrant the systematic screening for liver Adenomatosis in MODY3 families to prevent its potent...
Emmanuelle Jeannot - One of the best experts on this subject based on the ideXlab platform.
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hepatocyte nuclear factor 1α gene inactivation cosegregation between liver Adenomatosis and diabetes phenotypes in two maturity onset diabetes of the young mody 3 families
The Journal of Clinical Endocrinology and Metabolism, 2004Co-Authors: Yves Reznik, Emmanuelle Jeannot, Regis Coutant, Laurence Chiche, Severine Clauin, Pierre Rousselot, Monique Fabre, Frederic Oberti, Armelle Fatome, Jessica ZucmanrossiAbstract:Heterozygous germline mutations of the hepatocyte nuclear factor (HNF)-1α are associated with maturity-onset diabetes of the young (MODY)3. Recently, the biallelic inactivation of the HNF-1α gene was reported in liver adenomas. We show the occurrence of liver Adenomatosis in six MODY3-affected patients from two unrelated and large families. Liver Adenomatosis was characterized by the presence of numerous adenomas within a normal hepatic parenchyma. The HNF-1α hot-spot germline mutation P291fs was identified in the two probands and in 16 relatives from the two families. The six patients affected by liver Adenomatosis and diabetes exhibited the mutation. The analysis of liver-cell tumors from two affected patients evidenced the biallelic inactivation of HNF-1α. The familial screening confirmed the clinical heterogeneity of the liver phenotype, from silent liver Adenomatosis to fatal hemorrhage. These observations warrant the systematic screening for liver Adenomatosis in MODY3 families to prevent its potent...
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hepatocyte nuclear factor 1α gene inactivation cosegregation between liver Adenomatosis and diabetes phenotypes in two maturity onset diabetes of the young mody 3 families
The Journal of Clinical Endocrinology and Metabolism, 2004Co-Authors: Yves Reznik, Emmanuelle Jeannot, Thong Dao, Regis Coutant, Laurence Chiche, Severine Clauin, Pierre Rousselot, Monique Fabre, Frederic Oberti, Armelle FatomeAbstract:Heterozygous germline mutations of the hepatocyte nuclear factor (HNF)-1 alpha are associated with maturity-onset diabetes of the young (MODY)3. Recently, the biallelic inactivation of the HNF-1 alpha gene was reported in liver adenomas. We show the occurrence of liver Adenomatosis in six MODY3-affected patients from two unrelated and large families. Liver Adenomatosis was characterized by the presence of numerous adenomas within a normal hepatic parenchyma. The HNF-1 alpha hot-spot germline mutation P291fs was identified in the two probands and in 16 relatives from the two families. The six patients affected by liver Adenomatosis and diabetes exhibited the mutation. The analysis of liver-cell tumors from two affected patients evidenced the biallelic inactivation of HNF-1 alpha. The familial screening confirmed the clinical heterogeneity of the liver phenotype, from silent liver Adenomatosis to fatal hemorrhage. These observations warrant the systematic screening for liver Adenomatosis in MODY3 families to prevent its potentially deadly complications. Moreover, such screening may help to determine if a particular mutational spectrum of HNF-1 alpha is associated with liver Adenomatosis and to establish its prevalence in this frequent form of diabetes in the young adult.
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familial liver Adenomatosis associated with hepatocyte nuclear factor 1alpha inactivation
Gastroenterology, 2003Co-Authors: Yannick Bacq, Emmanuel Jacquemin, Charles Balabaud, Emmanuelle Jeannot, Beatrice Scotto, Sophie Branchereau, Christophe Laurent, P Bourlier, Daniele Pariente, Anne De MuretAbstract:Abstract Background & Aims: Germline mutations in hepatocyte nuclear factor 1α (TCF1/HNF-1α) are associated with maturity-onset diabetes of the young type 3 (MODY3), and somatic biallelic inactivations of the gene are found in hepatocellular adenomas and liver Adenomatosis. This study investigated cosegregation of HNF-1α germline mutations with diabetes and liver Adenomatosis in 2 families. Methods: Two unrelated patients with liver Adenomatosis and harboring HNF-1α germline and somatic mutations were studied. Subsequently, we screened 9 relatives in the 2 independent families for diabetes, hepatocellular adenomas, and HNF-1α germline mutations. Results: In family A, a father and his son presented with an intraperitoneal hemorrhagic rupture of a liver Adenomatosis without diabetes. A heterozygous R229X germline mutation was identified in HNF-1α in the father and his son and also in his second 27-year-old son without hepatocellular adenomas. In family B, a diagnosis of liver Adenomatosis was made fortuitously in a 14-year-old girl. A heterozygous G55fsX57 germline mutation in HNF-1α was identified in this patient, her diabetic father, and her 2 sisters. Systematic exploration showed liver Adenomatosis in the 2 sisters. Somatic inactivation of the second HNF-1α allele was found in liver tumors in both families. Conclusions: This study describes familial liver Adenomatosis and shows the association with germline HNF-1α mutations in adults and children. It also highlights the importance of screening for hepatocellular adenomas, diabetes, and HNF-1α germline mutations in relatives of patients with liver Adenomatosis. Finally, prevalence of liver Adenomatosis remains to be evaluated in MODY3 subjects.
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Case reportFamilia liver Adenomatosis associated with hepatocyte nuclear factor 1α inactivation1
Gastroenterology, 2003Co-Authors: Yannick Bacq, Emmanuel Jacquemin, Charles Balabaud, Emmanuelle Jeannot, Beatrice Scotto, Sophie Branchereau, Christophe Laurent, P Bourlier, Daniele Pariente, Anne De MuretAbstract:Background & Aims: Germline mutations in hepatocyte nuclear factor 1α (TCF1/HNF-1α) are associated with maturity-onset diabetes of the young type 3 (MODY3), and somatic biallelic inactivations of the gene are found in hepatocellular adenomas and liver Adenomatosis. This study investigated cosegregation of HNF-1α germline mutations with diabetes and liver Adenomatosis in 2 families.