Jingjing Jiao, Karin E Finberg, Dhanpat Jain, Raffaella Morotti
{"title":"肝细胞腺瘤：2例报告，强调儿科人群表型-基因型相关性。","authors":"Jingjing Jiao, Karin E Finberg, Dhanpat Jain, Raffaella Morotti","doi":"10.1177/10935266231175426","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>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 <i>HNF1A</i>-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.</p><p><strong>Methods: </strong>Clinical history, pathological information, and molecular studies for a series of 2 cases of pediatric HCA were reviewed.</p><p><strong>Results: </strong>Case 1 was a b-HCA characterized by somatic <i>CTNNB1</i> S45 mutation in a 11-year-old male with Abernethy malformation. Case 2 was a H-HCA characterized by germline <i>HNF1A</i> variant (c.526+1G>A) in a 15-year-old male associated with maturity-onset diabetes of the young type 3 (MODY3).</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":null,"pages":null},"PeriodicalIF":1.3000,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Hepatocellular Adenoma: Report of 2 Cases That Highlight the Relevance of Phenotype-Genotype Correlation in the Pediatric Population.\",\"authors\":\"Jingjing Jiao, Karin E Finberg, Dhanpat Jain, Raffaella Morotti\",\"doi\":\"10.1177/10935266231175426\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>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 <i>HNF1A</i>-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.</p><p><strong>Methods: </strong>Clinical history, pathological information, and molecular studies for a series of 2 cases of pediatric HCA were reviewed.</p><p><strong>Results: </strong>Case 1 was a b-HCA characterized by somatic <i>CTNNB1</i> S45 mutation in a 11-year-old male with Abernethy malformation. Case 2 was a H-HCA characterized by germline <i>HNF1A</i> variant (c.526+1G>A) in a 15-year-old male associated with maturity-onset diabetes of the young type 3 (MODY3).</p><p><strong>Conclusion: </strong>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.</p>\",\"PeriodicalId\":54634,\"journal\":{\"name\":\"Pediatric and Developmental Pathology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.3000,\"publicationDate\":\"2023-07-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Pediatric and Developmental Pathology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1177/10935266231175426\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2023/6/19 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q3\",\"JCRName\":\"PATHOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pediatric and Developmental Pathology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1177/10935266231175426","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/6/19 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"PATHOLOGY","Score":null,"Total":0}
Hepatocellular Adenoma: Report of 2 Cases That Highlight the Relevance of Phenotype-Genotype Correlation in the Pediatric Population.
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.
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.
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