Double Heterozygous Germline HNF1A Mutations in a Patient With Liver Adenomatosis

In Europe and North America, hepatocellular adenomas (HCA) occur, classically, in middle-aged woman taking oral contraceptives. Twenty percent of women, however, are not exposed to oral contraceptives; HCA can more rarely occur in men, children, and women over 65 years. HCA have been observed in many pathological conditions such as glycogenosis, familial adenomatous polyposis, MODY3, after male hormone administration, and in vascular diseases. Obesity is frequent particularly in inflammatory HCA. The background liver is often normal, but steatosis is a frequent finding particularly in inflammatory HCA. The diagnosis of HCA is more difficult when the background liver is fibrotic, notably in vascular diseases. HCA can be solitary, or multiple or in great number (adenomatosis). When nodules are multiple, they are usually of the same subtype. HNF1α-inactivated HCA occur almost exclusively in woman. The most important point of the classification is the identification of β-catenin mutated HCA, a strong argument to identify patients at risk of malignant transformation. Some HCA already present criteria indicating malignant transformation. When the whole nodule is a hepatocellular carcinoma, it is extremely difficult to prove that it is the consequence of a former HCA. It is occasionally difficult to identify HCA remodeled by necrosis or hemorrhage.

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“…H-HCA in men are observed only in MODY3 patients. We have confirmed the diagnosis of H-HCA due to MODY3 in 2 families [53, 55]. …”

Section: Hca Occurring In the Context Of Specific Etiologysupporting

confidence: 70%

“…The discovery of H-HCA in MODY3 is a great success of molecular biology with important clinical consequences [51–55]. The diagnosis of MODY3 should be evoked in H-HCA in the following circumstances: young age of the patient, adenomatosis, history of familial HCA, and diabetes in young age.…”

Section: Hca Occurring In the Context Of Specific Etiologymentioning

confidence: 99%

Pathological Diagnosis of Hepatocellular Cellular Adenoma according to the Clinical Context

Bioulac‐Sage

Sempoux

Possenti

et al. 2013

International Journal of Hepatology

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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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“…Some patients with MODY3 (monoallelic germline mutations of HNF1A) develop liver adenomatosis with biallelic H-HCA. 48,59,60 Following this mechanism, HNF1A meets the criteria of a classic tumor suppressor gene with a transmitted predisposition to develop tumors as defined by Knudson. 58 To our knowledge, currently all familial transmission of liver adenomatosis identified worldwide is associated with germline HNF1A mutations.…”

Section: Translation In Clinical Carementioning

confidence: 98%

Hepatocellular Benign Tumors—From Molecular Classification to Personalized Clinical Care

2013

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Double Heterozygous Germline HNF1A Mutations in a Patient With Liver Adenomatosis

Cited by 13 publications

References 5 publications

Pathological Diagnosis of Hepatocellular Cellular Adenoma according to the Clinical Context

Pathological Diagnosis of Hepatocellular Cellular Adenoma according to the Clinical Context

Liver transplantation for adenomatosis: European experience

Hepatocellular Benign Tumors—From Molecular Classification to Personalized Clinical Care

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