Liver, Alagille syndrome, CK7 stain

Alagille syndrome is a complex multisystem developmental disorder classically defined by a paucity of intrahepatic bile ducts in combination with three of five major clinical features: cholestasis, heart murmur or structural heart disease, characteristic facial features (eg. inverted triangle facies, broad forehead, pointed chin), vertebral anomalies, and eye findings. The disease may also be associated with renal abnormalities, pancreatic insufficiency and vascular anomalies. Inherited in an autosomal dominant fashion, JAG1 is the most commonly mutated gene associated with Alagille syndrome. The H&E section reveals the absence of interlobular bile ducts in all portal tracts. The CK7 immunostain demonstrates a few small, distorted bile ducts but also demosntrates many positive intermediate hepatocytes accentuated around the periportal regions without ductular proliferation. The CD10 immunostain demonstrates the complete absence of bile duct canaliculi.

This slide shows H&E stain. See Related Content for CD10 and CK7 stains.

Alagille syndrome is a complex multisystem developmental disorder classically defined by a paucity of intrahepatic bile ducts in combination with three of five major clinical features: cholestasis, heart murmur or structural heart disease, characteristic facial features (eg. inverted triangle facies, broad forehead, pointed chin), vertebral anomalies, and eye findings. The disease may also be associated with renal abnormalities, pancreatic insufficiency and vascular anomalies. Inherited in an autosomal dominant fashion, JAG1 is the most commonly mutated gene associated with Alagille syndrome. The H&E section reveals the absence of interlobular bile ducts in all portal tracts. The CK7 immunostain demonstrates a few small, distorted bile ducts but also demosntrates many positive intermediate hepatocytes accentuated around the periportal regions without ductular proliferation. The CD10 immunostain demonstrates the complete absence of bile duct canaliculi.

This slide shows CD10 stain. See Related Content for H&E and CK7 stains.

Alagille syndrome is a complex multisystem developmental disorder classically defined by a paucity of intrahepatic bile ducts in combination with three of five major clinical features: cholestasis, heart murmur or structural heart disease, characteristic facial features (eg. inverted triangle facies, broad forehead, pointed chin), vertebral anomalies, and eye findings. The disease may also be associated with renal abnormalities, pancreatic insufficiency and vascular anomalies. Inherited in an autosomal dominant fashion, JAG1 is the most commonly mutated gene associated with Alagille syndrome. The H&E section reveals the absence of interlobular bile ducts in all portal tracts. The CK7 immunostain demonstrates a few small, distorted bile ducts but also demosntrates many positive intermediate hepatocytes accentuated around the periportal regions without ductular proliferation. The CD10 immunostain demonstrates the complete absence of bile duct canaliculi.

This slide shows CK7 stain. See Related Content for H&E and CD10 stains.