title: Dubin-Johnson syndrome coinciding with colon cancer and atherosclerosis.
abstract: Hyperbilirubinemia has been presumed to prevent the process of atherogenesis and cancerogenesis mainly by decreasing oxidative stress. Dubin-Johnson syndrome is a rare, autosomal recessive, inherited disorder characterized by biphasic, predominantly conjugated hyperbilirubinemia with no progression to end-stage liver disease. The molecular basis in Dubin-Johnson syndrome is absence or deficiency of human canalicular multispecific organic anion transporter MRP2/cMOAT caused by homozygous or compound heterozygous mutation(s) in ABCC2 located on chromosome 10q24. Clinical onset of the syndrome is most often seen in the late teens or early adulthood. In this report, we describe a case of previously unrecognized Dubin-Johnson syndrome caused by two novel pathogenic mutations (c.2360_2366delCCCTGTC and c.3258+1G>A), coinciding with cholestatic liver disease in an 82-year-old male patient. The patient, suffering from advanced atherosclerosis with serious involvement of coronary arteries, developed colorectal cancer with nodal metastases. The subsequent findings do not support the protective role of Dubin-Johnson type hyperbilirubinemia.
authors: Center for Experimental Medicine, Institute for Clinical and Experimental Medicine, 14021 Prague 4, Czech Republic. eva.sticova@ikem.cz
authors: Eva
authors: E
authors: Sticova
authors: Milan
authors: M
authors: Elleder
authors: Helena
authors: H
authors: Hulkova
authors: Ondrej
authors: O
authors: Luksan
authors: Martin
authors: M
authors: Sauer
authors: Irena
authors: I
authors: Wunschova-Moudra
authors: Jan
authors: J
authors: Novotny
authors: Milan
authors: M
authors: Jirsa
mesh_terms: D000230:Adenocarcinoma / Q000150:complications* / Q000556:secondary; D000369:Aged, 80 and over; D001706:Biopsy; D003110:Colonic Neoplasms / Q000150:complications* / Q000473:pathology; D003324:Coronary Artery Disease / Q000150:complications* / Q000175:diagnosis; D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D020022:Genetic Predisposition to Disease; D006801:Humans; D007150:Immunohistochemistry; D007566:Jaundice, Chronic Idiopathic / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D008207:Lymphatic Metastasis; D008297:Male; D000089762:Multidrug Resistance-Associated Protein 2; D027425:ATP-Binding Cassette, Sub-Family C Proteins / Q000235:genetics; D009154:Mutation; D011379:Prognosis
chemical_list: D000089762:Multidrug Resistance-Associated Protein 2; D027425:ATP-Binding Cassette, Sub-Family C Proteins; C000715087:ABCC2 protein, human
keywords: ABCC2; Atherosclerosis; Cancer; Dubin-Johnson syndrome; Hyperbilirubinemia; Oxidative stress