PMID- 37334553
OWN - NLM
STAT- MEDLINE
DCOM- 20231102
LR  - 20231102
IS  - 1615-5742 (Electronic)
IS  - 1093-5266 (Linking)
VI  - 26
IP  - 4
DP  - 2023 Jul-Aug
TI  - Hepatocellular Adenoma: Report of 2 Cases That Highlight the Relevance of 
      Phenotype-Genotype Correlation in the Pediatric Population.
PG  - 394-403
LID - 10.1177/10935266231175426 [doi]
AB  - 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), 
      beta-catenin-activated HCA (b-HCA), and beta-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.
FAU - Jiao, Jingjing
AU  - Jiao J
AD  - Department of Pathology, Yale School of Medicine, New Haven, CT, USA.
FAU - Finberg, Karin E
AU  - Finberg KE
AUID- ORCID: 0000-0002-8171-2776
AD  - Department of Pathology, Yale School of Medicine, New Haven, CT, USA.
FAU - Jain, Dhanpat
AU  - Jain D
AD  - Department of Pathology, Yale School of Medicine, New Haven, CT, USA.
FAU - Morotti, Raffaella
AU  - Morotti R
AD  - Department of Pathology, Yale School of Medicine, New Haven, CT, USA.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20230619
PL  - United States
TA  - Pediatr Dev Pathol
JT  - Pediatric and developmental pathology : the official journal of the Society for 
      Pediatric Pathology and the Paediatric Pathology Society
JID - 9809673
RN  - 0 (beta Catenin)
RN  - 0 (Hedgehog Proteins)
SB  - IM
MH  - Male
MH  - Humans
MH  - Child
MH  - Adolescent
MH  - *Adenoma, Liver Cell/diagnosis/genetics/pathology
MH  - *Liver Neoplasms/diagnosis/genetics/pathology
MH  - beta Catenin/genetics
MH  - *Carcinoma, Hepatocellular
MH  - Hedgehog Proteins
MH  - Phenotype
MH  - Genotype
OTO - NOTNLM
OT  - Abernethy malformation
OT  - HNF1A inactivated hepatocellular adenoma
OT  - MODY3
OT  - molecular pathology
OT  - beta-catenin-activated hepatocellular adenoma
COIS- Declaration of Conflicting InterestsThe author(s) declared no potential conflicts 
      of interest with respect to the research, authorship, and/or publication of this 
      article.
EDAT- 2023/06/19 06:41
MHDA- 2023/06/19 06:42
CRDT- 2023/06/19 04:04
PHST- 2023/06/19 06:42 [medline]
PHST- 2023/06/19 06:41 [pubmed]
PHST- 2023/06/19 04:04 [entrez]
AID - 10.1177/10935266231175426 [doi]
PST - ppublish
SO  - Pediatr Dev Pathol. 2023 Jul-Aug;26(4):394-403. doi: 10.1177/10935266231175426. 
      Epub 2023 Jun 19.