Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0001430 (adenoma)
 21,222 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Liver adenomas are benign tumors at risk of malignant transformation. In a genome-wide search for loss of heterozygosity (LOH) associated with liver adenomas, we found a deletion in chromosome 12q in five of ten adenomas. In most cases, LOH at 12q was the only recurrent genetic alteration observed, suggesting the presence of a tumor-suppressor gene in that region. A minimal common region of deletion was defined in 12q24 that included the gene TCF1 (transcription factor 1), encoding hepatocyte nuclear factor 1 (HNF1; refs 1,2). Heterozygous germline mutations of TCF1 have been identified in individuals affected with maturity-onset diabetes of the young type 3 (MODY3; ref. 3). Bi-allelic inactivation of TCF1 was found in 10 of 16 screened adenomas, and heterozygous germline mutation were present in three affected individuals. Furthermore, 2 well-differentiated hepatocellular carcinomas (HCCs) occurring in normal liver contained somatic bi-allelic mutations of 30 screened HCCs. These results indicate that inactivation of TCF1, whether sporadic or associated with MODY3, is an important genetic event in the occurrence of human liver adenoma, and may be an early step in the development of some HCCs.
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PMID:Bi-allelic inactivation of TCF1 in hepatic adenomas. 1235 88

This review on the pathology of hepatic tumors in childhood, from a personal series of 245 tumors, focuses on incidence, management, description of frequent tumors such as hepatoblastoma, fibrolamellar carcinoma, and undifferentiated sarcoma for malignant tumors, focal nodular hyperplasia, hepatocellular adenoma, and mesenchymal hamartoma for benign tumors. Malignant and benign entities of recent description, including the following: crowded, small cell undifferentiated and cholangioblastic variants of hepatoblastomas, mesenchymal hamartoma miming hepatoblastoma, liver adenoma and adenomatosis in diabete MODY3 families, gastrointestinal stromal tumor with liver metastasis associated to Carney triad, macronodules in non-cirrhotic portal fibrosis are reviewed. For each entity, the clinical presentation, the diagnostic criteria and the differential diagnosis are described. The role of immunohistochemistry and molecular biology in the diagnosis and identification of new molecular mechanisms triggered by oncogenic activation with new prognostic markers, and therapeutic targets is emphasized.
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PMID:[Hepatic tumors in childhood: experience on 245 tumors and review of literature]. 1578 1