913 Familial liver adenomatosis associated with hepatocyte nuclear factor 1 alpha inactivation

Bacq, Yannick; Jacquemin, Emmanuel; Balabaud, C.; Jeannot, Emmanuelle; Scotto, B.; Branchereau, Sophie; Laurent, C; Bourlier, Pascal; Pariente, D.; Demuret, A

doi:10.1016/s0270-9139(03)80952-7

Cited by 57 publications

(81 citation statements)

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“…Twenty-seven of the 49 (55%) patients were younger than 30 years. We obtained information for maturity onset diabetes of the young (MODY) 3 diabetes (23)(24)(25) for 2 patients, and 2 patients had a family history of adenomatosis, including 2 sisters in this study. Sixteen (33%) patients had GSD type IA in this study.…”

Section: Resultsmentioning

confidence: 99%

Liver transplantation for adenomatosis: European experience

et al. 2016

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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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Section: Resultsmentioning

confidence: 99%

Liver transplantation for adenomatosis: European experience

et al. 2016

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“…We previously showed that germline HNF1␣ mutations predispose to liver adenomatosis and MODY3. [5][6][7] These observations suggested that relatives of patients presenting germline HNF1␣ mutation should be investigated for familial liver adenomatosis. Other genetic predispositions may be identified, particularly to explain the occurrence of multiple adenomas in patients.…”

Section: Discussionmentioning

confidence: 99%

“…2 In 1978, Foster and collaborators described another clinical entity, which was the first case of familial adenomatosis associated with diabetes, 3 later confirmed by others. [4][5][6][7] Some small HA may regress after withdrawal of oral contraceptives; however, they usually remain stable, or increase in size. They may bleed, or rarely, undergo malignant transformation.…”

Section: See Editorial On Page 401mentioning

confidence: 99%

“…Mutations of the TCF1 gene inactivating the hepatocyte nuclear factor 1␣ (HNF1␣) transcription factor, were identified in half of HA cases, 5 and most frequently both allelic mutations were somatic. Patients with an inherited mutation in 1 allele of HNF1␣ may develop maturity-onset diabetes of the young type 3 13 (MODY3, OMIM#600496) and familial liver adenomatosis, when the second allele is inactivated in hepatocytes by somatic mutation or chromosome deletion [5][6][7] …”

Section: See Editorial On Page 401mentioning

confidence: 99%

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Genotype–phenotype correlation in hepatocellular adenoma: New classification and relationship with HCC

et al. 2006

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Hepatocellular adenomas are benign tumors that can be difficult to diagnose. To refine their classification, we performed a comprehensive analysis of their genetic, pathological, and clinical features. A multicentric series of 96 liver tumors with a firm or possible diagnosis of hepatocellular adenoma was reviewed by liver pathologists. In all cases, the genes coding for hepatocyte nuclear factor 1␣ (HNF1␣) and ␤-catenin were sequenced. No tumors were mutated in both HNF1␣ and ␤-catenin enabling tumors to be classified into 3 groups, according to genotype. Tumors with HNF1␣ mutations formed the most important group of adenomas (44 cases). They were phenotypically characterized by marked steatosis (P < 10 ؊4 ), lack of cytological abnormalities (P < 10 ؊6 ), and no inflammatory infiltrates (P < 10 ؊4 ). In contrast, the group of tumors defined by ␤-catenin activation included 13 lesions with frequent cytological abnormalities and pseudo-glandular formation (P < 10 ؊5 ). The third group of tumors without mutation was divided into two subgroups based on the presence of inflammatory infiltrates. The subgroup of tumors consisting of 17 inflammatory lesions, resembled telangiectatic focal nodular hyperplasias, with frequent cytological abnormalities (P ‫؍‬ 10 ؊3 ), ductular reaction (P < 10 ؊2 ), and dystrophic vessels (P ‫؍‬ .02). In this classification, hepatocellular carcinoma associated with adenoma or borderline lesions between carcinoma and adenoma is found in 46% of the ␤-catenin-mutated tumors whereas they are never observed in inflammatory lesions and are rarely found in HNF1␣ mutated tumors (P ‫؍‬ .004). In conclusion, the molecular and pathological classification of hepatocellular adenomas permits the identification of strong genotype-phenotype correlations and suggests that adenomas with ␤-catenin activation have a higher risk of malignant transformation. (

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“…Maturity onset diabetes of the young type 3 (MODY3) is an autosomal dominantly inherited form of diabetes, it is associated with heterozygous mutations in the HNF1a gene, which is also related to HA. 10,11 A clinical study revealed that all subjects with MODY3 had been diagnosed before 25 y of age and required drug therapy for blood glucose control, so it was concluded that a diabetes diagnosis after 25 y of age or the absence of a need for drug therapy to control glycaemia from this age should exclude a MODY3 diagnosis. 12 In this case, the age of the patients was 47 and 42 y old, respectively, and both of them showed normal fasting blood glucose.…”

Section: Discussionmentioning

confidence: 99%

Synchronous giant hepatic adenoma in siblings-A case report and brief literature review

Zhang

Shi

Zhao

2016

Cancer Biology & Therapy

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A 47-year-old woman was referred to our department for a hepatic mass. She denied history of hepatitis or alcohol consumption and regular oral contraceptive use, except for the emergency contraceptive pill taken once a decade ago. Hepatitis B surface antigen and anti-hepatitis C antibody were negative, a-fetoprotein was within normal limit. CT scan revealed an enormous mass measuring 26.0£16 5£13 0 cm that almost totally replaced the right hepatic lobe. The neoplasm was completely resected and pathologically diagnosed as hepatic adenoma. Literature review indicates this is the largest hepatic adenoma reported so far. At the same time, clinical examination also revealed a hepatic mass in the patient's 42-year-old brother, which was pathologically confirmed as hepatic adenoma, too. He denied history of anabolic steroid use. Immunohistochemical analysis revealed the subtypes of both tumors as the inflammatory hepatic adenoma. Literature review indicates this is the first report of synchronous hepatic adenomas in siblings.

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913 Familial liver adenomatosis associated with hepatocyte nuclear factor 1 alpha inactivation

Cited by 57 publications

References 0 publications

Liver transplantation for adenomatosis: European experience

Liver transplantation for adenomatosis: European experience

Genotype–phenotype correlation in hepatocellular adenoma: New classification and relationship with HCC

Synchronous giant hepatic adenoma in siblings-A case report and brief literature review

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