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肝细胞核因子1α突变型肝细胞腺瘤:一种非典型表现。

Hepatocyte Nuclear Factor 1α-Mutated Hepatocellular Adenomas: An Atypical Presentation.

作者信息

Sousa Camila Maria Neves, Gadelha Patricia Maria Miranda, Cartaxo Rafaella de Sousa, Pedrosa George Washington Holanda, Honorio Rodrigo Schuler, Lima José Milton de Castro, Coelho Gustavo Rêgo, Coelho Clovis Rêgo

机构信息

São Carlos Institute of Education and Research, Farias Brito Faculty, Fortaleza, Brazil.

Hospital Infantil Albert Sabin, Fortaleza, Brazil.

出版信息

Case Rep Gastroenterol. 2017 Oct 30;11(3):637-642. doi: 10.1159/000480376. eCollection 2017 Sep-Dec.

Abstract

Hepatocellular adenomas (HCAs) are rare benign monoclonal hepatic tumors that commonly occur in females (3-4 per 100,000 women) due to the use of oral contraceptives, its primary risk factor. Recently, HCAs have been classified into 4 distinct subtypes according to genotypic and phenotypic characteristics and clinical features: inflammatory HCA (40-50%), which are hypervascular with marked peliosis and a tendency to bleed; hepatocyte nuclear factor 1α (HNF1A)-mutated HCA (H-HCA, 30-40%) that are diffusely steatotic and rarely undergo malignant transformation; β-catenin activated HCA (10-15%), which frequently undergo malignant transformation and may seem hepatocellular carcinoma on imaging; and unclassified HCA (10-25%). In this study, we report the case of a 23-year-old female oral contraceptive user with H-HCA. Usually, H-HCA is considered to be nonsevere in most cases and often requires outpatient follow-up. However, in this case, the injury had substantially increased in volume and evolved with a major bleeding frame, which was an unusual finding for this subtype of adenoma. The therapeutic used for this patient was a laparoscopic left hepatic segmentectomy. Thus, the choice of treatment to be performed in a patient with H-HCA can depend on the tumor size (>5 cm), the outcome of previous bleeding, and the risk of bleeding recurrence.

摘要

肝细胞腺瘤(HCAs)是一种罕见的良性单克隆性肝肿瘤,由于其主要危险因素——口服避孕药的使用,常见于女性(每10万名女性中有3 - 4例)。最近,HCAs根据基因型、表型特征和临床特点被分为4种不同亚型:炎症性HCA(40 - 50%),具有高血供,伴有明显的血囊肿,并有出血倾向;肝细胞核因子1α(HNF1A)突变型HCA(H - HCA,30 - 40%),弥漫性脂肪变性,很少发生恶性转化;β-连环蛋白激活型HCA(10 - 15%),经常发生恶性转化,在影像学上可能类似肝细胞癌;以及未分类的HCA(10 - 25%)。在本研究中,我们报告了一例使用口服避孕药的23岁女性患有H - HCA的病例。通常,大多数情况下H - HCA被认为病情不严重,常需门诊随访。然而,在该病例中,损伤体积显著增大,并伴有严重出血表现,这对于该亚型腺瘤来说是不寻常的发现。对该患者采用的治疗方法是腹腔镜左肝段切除术。因此,对于H - HCA患者的治疗选择可能取决于肿瘤大小(>5 cm)、既往出血情况以及出血复发风险。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/72e1/5731146/51255295bba7/crg-0011-0637-g01.jpg

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