Journal of Pathology and Translational Medicine

Original Article

Progressive Familial Intrahepatic Cholestasis in Korea: A Clinicopathological Study of Five Patients: Hyo Jeong Kang, Soon Auck Hong, Seak Hee Oh, Kyung Mo Kim, Han-Wook Yoo, Gu-Hwan Kim, Eunsil Yu; J Pathol Transl Med. 2019;53(4):253-260. Published online May 16, 2019; DOI: https://doi.org/10.4132/jptm.2019.05.03

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Background
Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of autosomal recessive liver diseases that present as neonatal cholestasis. Little is known of this disease in Korea.
Methods
The records of five patients histologically diagnosed with PFIC, one with PFIC1 and four with PFIC2, by liver biopsy or transplant were reviewed, and ATP8B1 and ABCB11 mutation status was analyzed by direct DNA sequencing. Clinicopathological characteristics were correlated with genetic mutations.
Results
The first symptom in all patients was jaundice. Histologically, lobular cholestasis with bile plugs was the main finding in all patients, whereas diffuse or periportal cholestasis was identified only in patients with PFIC2. Giant cells and ballooning of hepatocytes were observed in three and three patients with PFIC2, respectively, but not in the patient with PFIC1. Immunostaining showed total loss of bile salt export pump in two patients with PFIC2 and focal loss in two. Lobular and portal based fibrosis were more advanced in PFIC2 than in PFIC1. ATP8B1 and ABCB11 mutations were identified in one PFIC1 and two PFIC2 patients, respectively. One PFIC1 and three PFIC2 patients underwent liver transplantation (LT). At age 7 months, one PFIC2 patient was diagnosed with concurrent hepatocellular carcinoma and infantile hemangioma in an explanted liver. The patient with PFIC1 developed steatohepatitis after LT. One patient showed recurrence of PFIC2 after 10 years and underwent LT.
Conclusions
PFIC is not rare in patients with neonatal cholestasis of unknown origin. Proper clinicopathologic correlation and genetic testing can enable early detection and management.

Citations

Citations to this article as recorded by

Progressive Familial Intrahepatic Cholestasis: A Descriptive Study in a Tertiary Care Center
Fahad I. Alsohaibani, Musthafa C. Peedikayil, Abdulaziz F. Alfadley, Mohamed K. Aboueissa, Faisal A. Abaalkhail, Saleh A. Alqahtani, Dirk Uhlmann
International Journal of Hepatology.2023; 2023: 1. CrossRef
Next-generation sequencing panel test results in pediatric patients with progressive familial intrahepatic cholestasis: a single-center experience
Ali TOPAK
The European Research Journal.2023; 9(6): 1438. CrossRef
Progressive Familial Intrahepatic Cholestasis: A Study in Children From a Liver Transplant Center in India
Sagar Mehta, Karunesh Kumar, Ravi Bhardwaj, Smita Malhotra, Neerav Goyal, Anupam Sibal
Journal of Clinical and Experimental Hepatology.2022; 12(2): 454. CrossRef
Liver transplantation in pediatric patients with progressive familial intrahepatic cholestasis: Single center experience of seven cases
Jung-Man Namgoong, Shin Hwang, Hyunhee Kwon, Suhyeon Ha, Kyung Mo Kim, Seak Hee Oh, Seung-Mo Hong
Annals of Hepato-Biliary-Pancreatic Surgery.2022; 26(1): 69. CrossRef
Liver Transplantation for Pediatric Hepatocellular Carcinoma: A Systematic Review
Christos D. Kakos, Ioannis A. Ziogas, Charikleia D. Demiri, Stepan M. Esagian, Konstantinos P. Economopoulos, Dimitrios Moris, Georgios Tsoulfas, Sophoclis P. Alexopoulos
Cancers.2022; 14(5): 1294. CrossRef
Morphology of transplanted liver in recurrent progressive familial intrahepatic cholestasis type 2
I. M. Iljinsky, N. P. Mozheiko, O. M. Tsirulnikova
Russian Journal of Transplantology and Artificial Organs.2021; 22(4): 192. CrossRef

Case Study

A Pyloric Gland-Phenotype Ovarian Mucinous Tumor Resembling Lobular Endocervical Glandular Hyperplasia in a Patient with Peutz-Jeghers Syndrome: Eun Na Kim, Gu-Hwan Kim, Jiyoon Kim, In Ah Park, Jin Ho Shin, Yun Chai, Kyu-Rae Kim; J Pathol Transl Med. 2017;51(2):159-164. Published online August 22, 2016; DOI: https://doi.org/10.4132/jptm.2016.07.01

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204 Download
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Abstract PDF

We describe an ovarian mucinous neoplasm that histologically resembles lobular endocervical glandular hyperplasia (LEGH) containing pyloric gland type mucin in a patient with Peutz-Jeghers syndrome (PJS). Although ovarian mucinous tumors rarely occur in PJS patients, their pyloric gland phenotype has not been clearly determined. The histopathologic features of the ovarian mucinous tumor were reminiscent of LEGH. The cytoplasmic mucin was stained with periodic acid-Schiff reaction after diastase treatment but was negative for Alcian blue pH 2.5, suggesting the presence of neutral mucin. Immunohistochemically, the epithelium expressed various gastric markers, including MUC6, HIK1083, and carbonic anhydrase-IX. Multiple ligation-dependent probe amplification detected a germline heterozygous deletion mutation at exons 1–7 of the STK11 gene (c.1-?_920+?del) in peripheral blood leukocytes and mosaic loss of heterozygosity in ovarian tumor tissue. Considering that LEGH and/or gastric-type cervical adenocarcinoma can be found in patients with PJS carrying germline and/or somatic STK11 mutations, our case indicates that STK11 mutations have an important role in the proliferation of pyloric-phenotype mucinous epithelium at various anatomical locations.

Citations

Citations to this article as recorded by

Ovarian Mucinous Tumor Presenting Atypical Lobular Endocervical Glandular Hyperplasia-Like Appearance in a Patient With Germline STK11 p.F354L Variant: A Case Report
Hiroshi Yoshida, Kengo Hiranuma, Mariko Nakahara, Mayumi Kobayashi-Kato, Yasuhito Tanase, Masaya Uno, Kouya Shiraishi, Mitsuya Ishikawa, Tomoyasu Kato
International Journal of Surgical Pathology.2024; 32(2): 394. CrossRef
Preoperative multimodal ultrasonic imaging in a case of Peutz-Jeghers syndrome complicated by atypical lobular endocervical glandular hyperplasia: a case report and literature review
Liwen Yang, Duan Duan, Ying Xiong, Tianjiao Liu, Lijun Zhao, Fan Lai, Dingxian Gu, Liuying Zhou
Hereditary Cancer in Clinical Practice.2024;[Epub] CrossRef
Gastric‐type glandular lesions of the female genital tract excluding the cervix: emerging pathological entities
Richard W‐C Wong, Karen L Talia, W Glenn McCluggage
Histopathology.2024;[Epub] CrossRef
Gastric-phenotype Mucinous Carcinoma of the Fallopian Tube with Secondary Ovarian Involvement in a Woman with Peutz-Jeghers Syndrome: A Case Report
Mónica Bronte Anaut, Javier Arredondo Montero, Maria Pilar Fernández Seara, Rosa Guarch Troyas
International Journal of Surgical Pathology.2023; 31(1): 92. CrossRef
Molecular characterization of gastric-type endocervical adenocarcinoma using next-generation sequencing
Swati Garg, Teddy S. Nagaria, Blaise Clarke, Orit Freedman, Zanobia Khan, Joerg Schwock, Marcus Q. Bernardini, Amit M. Oza, Kathy Han, Adam C. Smith, Tracy L. Stockley, Marjan Rouzbahman
Modern Pathology.2019; 32(12): 1823. CrossRef
The developing spectrum of gastric-type cervical glandular lesions
Karen L. Talia, W. Glenn McCluggage
Pathology.2018; 50(2): 122. CrossRef

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