Identification of Bile Duct Paucity in Alagille Syndrome: Using CK7 and EMA Immunohistochemistry as a Reliable Panel for Accurate Diagnosis
| Autor: | Carlos R. Abramowsky, Diana Metry, Caitlin A. Cundiff, Scott Gillespie, Shelley A. Caltharp, Rene Romero, Bahig M. Shehata, Haley K. Herman |
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| Rok vydání: | 2016 |
| Předmět: |
Male
Pathology medicine.medical_specialty Adolescent Databases Factual Bile Duct Epithelium Biopsy Cholestasis Intrahepatic Biology Pathology and Forensic Medicine Diagnosis Differential 03 medical and health sciences Cytokeratin 0302 clinical medicine Cholestasis Predictive Value of Tests Alagille syndrome medicine Humans Child Cell Proliferation Retrospective Studies Bile duct Keratin-7 Mucin-1 Infant Reproducibility of Results Autosomal dominant trait Epithelial Cells General Medicine medicine.disease Immunohistochemistry Alagille Syndrome Interlobular bile ducts Bile Ducts Intrahepatic medicine.anatomical_structure Child Preschool 030220 oncology & carcinogenesis Pediatrics Perinatology and Child Health Female 030211 gastroenterology & hepatology Differential diagnosis Biomarkers |
| Zdroj: | Pediatric and Developmental Pathology. 19:47-50 |
| ISSN: | 1615-5742 1093-5266 |
| DOI: | 10.2350/15-05-1628-oa.1 |
| Popis: | Bile duct paucity is the absence or marked reduction in the number of interlobular bile ducts (ILBD) within portal tracts. Its syndromic variant, Alagille syndrome (ALGS), is a multisystem disorder with effects on the liver, cardiovascular system, skeleton, face, and eyes. It is inherited as an autosomal dominant trait due to defects in NOTCH signaling pathway. ALGS is characterized by vanishing ILBD with subsequent chronic obstructive cholestasis in approximately 89% of cases. Cholestasis stimulates formation of new bile ductules through a process of neoductular reaction, making it difficult to evaluate the presence or absence of ILBD. Therefore, finding a method to differentiate clearly between ILBD and the ductular proliferation is essential for accurate diagnosis. A database search identified 28 patients with confirmed diagnosis of ALGS between 1992 and 2014. Additionally, 7 controls were used. A panel of two immunostains, cytokeratin 7 (CK7) and epithelial membrane antigen (EMA), was performed. CK7 highlighted the bile duct epithelium of ILBD and ductular proliferation, while EMA stained only the brush border of ILBD. In our ALGS group, the ratio of EMA-positive ILBD to identified portal tracts was 12.6% (range, 0%–41%). However, this same ratio was 95.0% (range, 90%–100%) among control cases ( P < 0.001). We propose a panel of two immunostains, CK7 and EMA, to differentiate ILBD from ductular proliferation in patients with cholestasis. With this panel, identification of bile duct paucity can be achieved. Additional studies, including molecular confirmation and clinical correlation, would provide a definitive diagnosis of ALGS. |
| Databáze: | OpenAIRE |
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