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Familial liver adenomatosis
2006-03-01
Jessica Zucman-Rossi
 
Affiliation
Inserm U674, Génomique Fonctionnelle des tumeurs solides, 27 rue Juliette Dodu, 75010 Paris, France
Identity
Name
Familial liver adenomatosis
Alias
Familial hepatic adenomas
Note
Liver adenomatosis is a rare disease defined by the presence of multiple adenomas within an otherwise normal hepatic parenchyma. In 2002, frequent bi-allelic inactivation of
TCF1
\/HNF-1alpha, was identified in hepatocellular adenomas. In 80% of the cases both mutations were of somatic origin. However, in the remaining cases, one heterozygous germline mutation has been found in patients revealing a relation between liver adenomatosis and maturity-onset diabetes of the young (MODY3). MODY3 is a rare dominantly inherited subtype of non-insulin-dependent diabetes mellitus characterized by early onset, usually before the age of 25, and a primary defect in insulin secretion. In 1996, heterozygous germline mutations of TCF1\/HNF1a have been linked to the occurrence of MODY3 in humans.
Inheritance
autosomal dominant disorder with low penetrance
Omim
142330
Orphanet
- -
Umls
-
Clinics
Phenotype and clinics
To date, all familial liver adenomatosis cases described are related to TCF1\/HFN1a constitutional mutation. Genotype-phenotype correlation analysis showed that TCF1\/HNF1a benign lesions were steatotic.
Neoplastic risk
Among MODY3 patients only a very small minority will develop liver adenomatosis. Cases of malignant transformation are uncommon.
Evolution
Patients presenting TCF1\/HNF1a mutated adenomatosis are at risk of tumor hemorrhagic rupture.
Genes involved and Proteins
Note
HNF1a is a homeodomain containing transcription factor that is implicated in hepatocyte differentiation and is required for the liver-specific expression of several genes, including β-fibrinogen, albumin and a1-antitrypsin.
Alias
TCF1, LFB1, M57732, MODY3
Description
10 coding exons
Function
transcription factor
Homology
homeodomain, pou family
Germinal
at least 6 different mutations were found in familial adenomatosis: R229X, R272S, P291fs (2 cases), G55fs, IVS2 +1 G>T
Somatic
inactivation of the second allele in adenoma tumors is by gene deletion or mutation.
Article Bibliography
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External Links
GARD
ERN GENTURIS
OMIM
ORPHANET
MeSH
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