Alagille syndrome is associated with decreased bile ducts, cardiac abnormalities, vertebral body fusion defects, and a typical facies. While regenerative nodules and hepatocellular carcinoma have been described in these patients, hepatic adenoma has not. Herein, we present a patient with Alagille syndrome caused by a mutation in NOTCH2 with a hepatic adenoma. The clinical, imaging, and histologic features are discussed.
AlagilleDOdievreMGautierMDommerguesJP. Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur. J Pediatr1975; 86: 63–71.
3.
DeutschGHSokolRJStathosTHKniselyAS. Proliferation to paucity: evolution of bile duct abnormalities in a case of Alagille syndrome. Pediatr Dev Pathol2001; 4: 559–563.
4.
TajimaTHondaHYanagaKet al.Hepatic nodular hyperplasia in a boy with Alagille syndrome: CT and MR appearances. Pediatr Radiol2001; 31: 584–588.
5.
JingujiMTsuchimochiSNakajoMet al.Scintigraphic progress of the liver in a patient with Alagille syndrome (arteriohepatic dysplasia). Ann Nucl Med2003; 17: 693–697.
6.
SyedMAKhaliliKGuindiM. Regenerating nodules in arteriohepatic syndrome: a case report. Br J Radiol2008; 81: e79–e83.
BhadriVAStormonMOArbuckleSLamAHGaskinKJShunA. Hepatocellular carcinoma in children with Alagille syndrome. J Pediatr Gastroenterol Nutr2005; 41: 676–678.
9.
KimBParkSHYangHRSeoJKKimWSChiJG. Hepatocellular carcinoma occurring in Alagille syndrome. Pathol Res Pract2005; 201: 55–60.
10.
HaleGLiuXHuJet al.Correlation of Exon 3 β-catenin mutations with glutamine synthetase staining patterns in hepatocellular adenoma and hepatocellular carcinoma. Mod Pathol2016; 29: 1370–1380.
11.
ZongYPanikkarAXuJet al.Notch signaling controls liver development by regulating biliary differentiation. Development2009; 136: 1727–1739.
12.
DhingraSFielMI. Update on the new classification of hepatic adenomas: clinical, molecular, and pathologic characteristics. Arch Pathol Lab Med2014; 138: 1090–1097.
13.
Zucman-RossiJJeannotENhieuJTet al.Genotype-phenotype correlation in hepatocellular adenoma: new classification and relationship with HCC. Hepatology2006; 43: 515–524.
14.
Bioulac-SagePRebouissouSThomasCet al.Hepatocellular adenoma subtype classification using molecular markers and immunohistochemistry. Hepatology2007; 46: 740–748.
15.
Biolac-SagePBalabaudCWanlessIFocal nodular hyperplasia and hepatocellular adenoma. In: BomanFTCarneiroFHrubanRHTheiseND (eds). WHO Classification of Tumor of the Digestive System, Lyon, France: International Agency for Research on Cancer, 2010, pp. 198–204.
16.
ChioreanLCuiXWTannapfelAet al.Benign liver tumors in pediatric patients—review with emphasis on imaging. World J Gastroenterol2015; 21: 8541–8561.
17.
ResnickMBKozakewichHPPerez-AtaydeAR. Hepatic adenoma in the pediatric age group: clinicopathological observations and assessment of cell proliferative activity. Am J Surg Pathol1995; 19: 1181–1190.
18.
MeyersABTowbinAJSeraiSGellerJIPodbereskyDJ. Characterization of pediatric liver lesions with gadoxetate disodium. Pediatr Radiol2011; 41: 1183–1197.
19.
GrazioliLFederleMPBrancatelliGIchikawaTOlivettiLBlacharA. Hepatic adenomas: imaging and pathologic findings. Radiographics2001; 21: 877–894.
