Hepatocellular Adenoma: Report of 2 Cases That Highlight the Relevance of Phenotype-Genotype Correlation in the Pediatric Population.

IF 1.3 4区医学 Q3 PATHOLOGY

Pediatric and Developmental Pathology Pub Date : 2023-07-01 Epub Date: 2023-06-19 DOI:10.1177/10935266231175426

Jingjing Jiao, Karin E Finberg, Dhanpat Jain, Raffaella Morotti

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引用次数: 0

Abstract

Background: Hepatocellular adenoma (HCA) in the pediatric population is very rare and there are only limited studies, especially with molecular characterization of the tumors. Main HCA subtypes recognized in the current WHO classification include HNF1A-inactivated HCA (H-HCA), inflammatory HCA (IHCA), β-catenin-activated HCA (b-HCA), and β-catenin-activated IHCA (b-IHCA) and sonic hedgehog HCA (shHCA) is reported as an emerging subtype.

Methods: Clinical history, pathological information, and molecular studies for a series of 2 cases of pediatric HCA were reviewed.

Results: Case 1 was a b-HCA characterized by somatic CTNNB1 S45 mutation in a 11-year-old male with Abernethy malformation. Case 2 was a H-HCA characterized by germline HNF1A variant (c.526+1G>A) in a 15-year-old male associated with maturity-onset diabetes of the young type 3 (MODY3).

Conclusion: Our findings highlight the rarity of these 2 cases associated with adenomatosis, and the contribution of molecular/genetic analysis for proper sub-typing, prognosis and family surveillance.

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肝细胞腺瘤：2例报告，强调儿科人群表型-基因型相关性。

背景：肝细胞腺瘤（HCA）在儿科人群中非常罕见，并且只有有限的研究，特别是对肿瘤的分子特征的研究。目前世界卫生组织分类中识别的主要HCA亚型包括HNF1A-灭活的HCA（H-HCA）、炎症性HCA（IHCA）、β-连环蛋白激活的HCA和β-连环素激活的IHCA（b-IHCA），据报道，声hedgehog HCA（shHCA）是一种新的亚型。方法：回顾性分析2例小儿HCA的临床病史、病理资料和分子生物学研究。结果：病例1为b-HCA，其特征为11岁男性Abernethy畸形的体细胞CTNNB1 S45突变。病例2是一名15岁男性的H-HCA，其特征为种系HNF1A变体（c.526+1G>a），与年轻3型糖尿病（MODY3）的成熟期发病有关。结论：我们的研究结果强调了这2例与子宫腺肌病相关的病例的罕见性，以及分子/基因分析对正确的亚型、预后和家族监测的贡献。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Pediatric and Developmental Pathology 医学-病理学

CiteScore

3.70

自引率

5.30%

发文量

审稿时长

6-12 weeks

期刊介绍： The Journal covers the spectrum of disorders of early development (including embryology, placentology, and teratology), gestational and perinatal diseases, and all diseases of childhood. Studies may be in any field of experimental, anatomic, or clinical pathology, including molecular pathology. Case reports are published only if they provide new insights into disease mechanisms or new information.