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Doege-Potter syndrome by malignant solitary fibrous tumor of the liver: A case report and review of literature

World Journal of Gastrointestinal Surgery 2019年第8期11卷 348-357页

作者： Delvecchio Antonella Duda Loren Conticchio Maria Fiore Felicia Lafranceschina Stefano Riccelli Umberto Cristofano Antonella Pascazio Bianca Colagrande Anna resta leonardo Memeo Riccardo Department of Emergency and Organ Transplantation General Surgery Unit “M. Rubino” University of Bari Bari 70124 Italy Department of Pathology University of Bari Bari 70124 Italy Department of Oncology Ente Ecclesiastico Ospedale F. Miulli Acquaviva delle Fonti 70021 Italy Department of General Surgery Ospedale San Paolo Bari 70123 Italy

BACKGROUND Solitary fibrous tumor of the liver (SFTL) is a rare occurrence with a low number of cases reported in literature. SFTL is usually benign but, 10%-20% cases are reported to be malignant with a tendency to metastasize. The majority of malignant SFTL cases are associated with a paraneoplastic hypoglycaemia defined as Doege-Potter syndrome. Surgery is the best therapeutic treatment, however, long- life follow-up is recommended. CASE SUMMARY A 74-year-old man, was admitted to the emergency department after a syncopal episode with detection of hypoglycaemia resistant to medical treatment. The computed tomography revealed a solid mass measuring 15 cm of the left liver. An open left hepatectomy was performed with complete resection of tumor. Histopathological analyses confirmed a malignant SFTL. CONCLUSION Large series with long-term follow-up have not been published neither have clinical trials been undertaken. Consequently, the methodical long-term followup of surgically treated SFTLs is strongly recommended.

关键词： Solitary fibrous tumor Malignant solitary fibrous tumor of the liver Mesenchymal tumor Hepatic tumor Doege-Potter syndrome

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Nonsense variant of ATP8B1 gene in heterozygosis and benign recurrent intrahepatic cholestasis: A case report and review of literature

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World Journal of Hepatology 2020年第2期12卷 64-71页

作者： Mariano Piazzolla Nicola Castellaneta Antonio Novelli Emanuele Agolini Dario Cocciadiferro leonardo resta Loren Duda Michele Barone Enzo Ierardi Alfredo Di Leo Section of Gastroenterology Department of Emergency and Organ TransplantationUniversity of BariBari 70124Italy Laboratory of Medical Genetics Ospedale Pediatrico Bambino GesùRome 00165Italy Section of Pathology Department of Emergency and Organ TransplantationUniversity of BariBari 70124Italy

BACKGROUND Benign recurrent intrahepatic cholestasis is a genetic disorder with recurrent cholestatic jaundice due to ATP8B1 and ABCB11 gene mutations encoding for hepato-canalicular transporters.Herein,we firstly provide the evidence that a nonsense variant of ATP8B1 gene(c.1558A>T)in heterozygous form is involved in BRIC pathogenesis.CASE SUMMARY A 29-year-old male showed severe jaundice and laboratory tests consistent with intrahepatic cholestasis despite normal gamma-glutamyltranspeptidase.Acute and chronic liver diseases with viral,metabolic and autoimmune etiology were excluded.Normal intra/extra-hepatic bile ducts were demonstrated by magnetic resonance.Liver biopsy showed:Cholestasis in the centrilobular and intermediate zones with bile plugs and intra-hepatocyte pigment,Kupffer’s cell activation/hyperplasia and preserved biliary ducts.Being satisfied benign recurrent intrahepatic cholestasis diagnostic criteria,ATP8B1 and ABCB11 gene analysis was performed.Surprisingly,we found a novel nonsense variant of ATP8B1 gene(c.1558A>T)in heterozygosis.The variant was confirmed by Sanger sequencing following a standard protocol and tested for familial segregation,showing a maternal inheritance.Immunohistochemistry confirmed a significant reduction of mutated gene related protein(familial intrahepatic cholestasis 1).The patient was treated with ursodeoxycholic acid 15 mg/kg per day and colestyramine 8 g daily with total bilirubin decrease and normalization at the 6th and 12th mo.CONCLUSION A genetic abnormality,different from those already known,could be involved in familial intrahepatic cholestatic disorders and/or pro-cholestatic genetic predisposition,thus encouraging further mutation detection in this field.

关键词： Benign recurrent intrahepatic cholestasis ATP8B1/ABCB11 genes Jaundice Heterozygous variant of ATP8B1 gene(c.1558A>T) Familial inheritance Case report

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