RGD Reference Report - BRAF V600E mutational status in bile duct adenomas and hamartomas. - Rat Genome Database

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BRAF V600E mutational status in bile duct adenomas and hamartomas.

Authors: Pujals, A  Bioulac-Sage, P  Castain, C  Charpy, C  Zafrani, ES  Calderaro, J 
Citation: Pujals A, etal., Histopathology. 2015 Oct;67(4):562-7. doi: 10.1111/his.12674. Epub 2015 Mar 31.
RGD ID: 11521169
Pubmed: PMID:25704541   (View Abstract at PubMed)
DOI: DOI:10.1111/his.12674   (Journal Full-text)

AIMS: Bile duct adenomas (BDA) and bile duct hamartomas (BDH) are benign bile duct lesions considered neoplastic or secondary to ductal plate malformation, respectively. We have reported previously a high prevalence of BRAF V600E mutations detected by allele-specific polymerase chain reaction assay in BDA, and suggested that BDA may be precursors to a subset of intrahepatic cholangiocarcinomas harbouring V600E mutations. The aim of the present study was to assess the existence of BRAF V600E mutations, using immunohistochemical methods, in additional BDA as well as in BDH. METHODS AND RESULTS: Fifteen BDA and 35 BDH were retrieved from the archives of the pathology departments of two French university hospitals. All cases were reviewed by two pathologists specialized in liver diseases. BRAF V600E mutational status was investigated by immunohistochemistry. Mutated BRAF mutant protein was detected in 53% of the BDA and in none of the cases of BDH. CONCLUSION: Our findings suggest that BDA and BDH are different processes, and that BDA represent true benign neoplasms. They also support the hypothesis that mutated BDA might precede the development of the subset of intrahepatic cholangiocarcinomas harbouring BRAF V600E mutations.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
bile duct adenoma  IAGP 11521169; 11521169; 11521169DNA:missense mutation:cds:p.V600E (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Braf  (B-Raf proto-oncogene, serine/threonine kinase)

Genes (Mus musculus)
Braf  (Braf transforming gene)

Genes (Homo sapiens)
BRAF  (B-Raf proto-oncogene, serine/threonine kinase)


Additional Information