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胆管腺瘤和错构瘤中的BRAF V600E突变状态。

BRAF V600E mutational status in bile duct adenomas and hamartomas.

作者信息

Pujals Anaïs, Bioulac-Sage Paulette, Castain Claire, Charpy Cécile, Zafrani Elie Serge, Calderaro Julien

机构信息

Department of Pathology, Assistance Publique-Hôpitaux de Paris, CHU Henri Mondor, Créteil, France.

Faculté de Médecine, Université Paris-Est Créteil, Créteil, France.

出版信息

Histopathology. 2015 Oct;67(4):562-7. doi: 10.1111/his.12674. Epub 2015 Mar 31.

DOI:10.1111/his.12674
PMID:25704541
Abstract

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.

摘要

目的

胆管腺瘤(BDA)和胆管错构瘤(BDH)分别被认为是肿瘤性或继发于导管板畸形的良性胆管病变。我们之前报道过,通过等位基因特异性聚合酶链反应检测发现BDA中BRAF V600E突变的发生率很高,并提出BDA可能是携带V600E突变的一部分肝内胆管癌的前体。本研究的目的是使用免疫组化方法评估更多的BDA以及BDH中BRAF V600E突变的存在情况。

方法与结果

从两家法国大学医院病理科档案中检索出15例BDA和35例BDH。所有病例均由两名肝病专科病理学家复查。通过免疫组化研究BRAF V600E突变状态。在53%的BDA中检测到BRAF突变蛋白,而在所有BDH病例中均未检测到。

结论

我们的研究结果表明,BDA和BDH是不同的病变过程,且BDA代表真正的良性肿瘤。这些结果还支持这样的假说,即发生BRAF V600E突变的BDA可能先于携带该突变的肝内胆管癌亚群的发生。

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