Cholangiocarcinoma in Wilson’s Disease – a Case Report

Németh, Dániel; Folhoffer, Anikó; Smuk, Gábor; Kajtár, Béla; Tornóczky, Tamás; Szalay, Ferenç

doi:10.15403/jgld.2014.1121.263.nem

Cited by 4 publications

(4 citation statements)

References 14 publications

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“…Among the hepatic malignancies, there are fewer IHCC cases in WD, with only 14 cases reported to date, including the present study. Two of the reports were cohort studies [ 3 , 13 ], whereas the others were case reports [ 1 , 14 – 16 ]. Although details for these cases were not included, 7 of the 14 cases were treated surgically, including our case, and various treatments for the remaining cases were applied, including liver transplantation, radiofrequency ablation, and chemotherapy according to the tumor and liver condition at the time of diagnosis ( Table 1 ).…”

Section: Discussionmentioning

confidence: 99%

Intrahepatic Cholangiocarcinoma in Wilson’s Disease: A Case Report

Jang,

Kang,

Kim

2023

Am J Case Rep

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Patient: Female, 39-year-old Final Diagnosis: Intrahepatic cholangiocarcinoma Symptoms: Non Clinical Procedure: — Specialty: Oncology • Surgery Objective: Rare disease Background: Wilson’s disease is a rare autosomal recessive disorder characterized by excessive accumulation of copper in the liver, brain, and kidneys. Although it affects only approximately 1 in 30 000 individuals, it leads to progressive liver damage and neurological issue. Wilson’s disease presents a wide spectrum of clinical manifestations related to hepatic disease, ranging from asymptomatic cases to acute liver failure. The occurrence of hepatobiliary malignancies, including intrahepatic cholangiocarcinoma, is relatively uncommon in Wilson’s disease, even among patients with cirrhosis. Only 14 cases have been published so far, including the present report, and its etiology remains unclear. Case Report: We report the successful treatment of intrahepatic cholangiocarcinoma in a 39-year-old woman with Wilson’s disease. Twenty-two years after being diagnosed with Wilson’s disease, intrahepatic cholangiocarcinoma was diagnosed. She had an intrahepatic mass that was found to be a 4.3-cm ill-defined hypodense lesion in liver segment 3/4, with features suggesting infiltrative intrahepatic cholangiocarcinoma rather than hepatocellular carcinoma. Laboratory results showed slightly elevated liver enzymes and tumor markers. There was no evidence of metastasis on chest computed tomography or positron emission tomography, and the tumor was resectable, so surgery was the first-choice treatment option. Left hepatectomy was performed successfully, and the final pathology confirmed adenocarcinoma with clear resection margins. The patient received adjuvant chemotherapy with capecitabine. To date, the patient has been doing well without evidence of recurrence or metastasis. Conclusions: Despite limited knowledge regarding hepatic malignancy in Wilson’s disease, it is crucial to prioritize careful monitoring and develop suitable treatment strategies upon diagnosis to achieve favorable outcomes, considering the potential occurrence of intrahepatic cholangiocarcinoma in Wilson’s disease.

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Section: Discussionmentioning

confidence: 99%

Intrahepatic Cholangiocarcinoma in Wilson’s Disease: A Case Report

Jang,

Kang,

Kim

2023

Am J Case Rep

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“…It is exceedingly rare and to date only a few cases have been described (103,104). CC in WD patients is predominantly intrahepatic, peripheral, and mass-forming tumors, but more diffuse and infiltrative forms have been reported.…”

Section: Hepatic Malignanciesmentioning

confidence: 99%

“…CC in WD patients is predominantly intrahepatic, peripheral, and mass-forming tumors, but more diffuse and infiltrative forms have been reported. CC can also be diagnosed during continuous, long term anticopper treatment (104). In approximately 50% of patients with WD, liver nodules may be identified on imaging, the majority of which are benign.…”

Section: Hepatic Malignanciesmentioning

confidence: 99%

Wilson disease and the differential diagnosis of its hepatic manifestations: a narrative review of clinical, laboratory, and liver histological features

Schroeder¹,

Matsukuma²,

Medici³

2021

Ann Transl Med

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Objective: The goal of the present work is to provide an overview of the differential diagnosis of Wilson disease.Background: Wilson disease is a rare condition due to copper accumulation primarily in the liver and brain. Although there is no definitive cure, current anti-copper treatments are associated with better outcomes if initiated early and if the diagnosis is made promptly. However, diagnostic delays are frequent and often Wilson disease represents a diagnostic challenge. The diagnosis ultimately relies on a combination of clinical, laboratory and genetic findings, and it is crucial that clinicians list Wilson disease in their differential diagnosis, especially in patients presenting with a hepatocellular pattern of liver injury. Some biochemical and liver histological features of Wilson disease overlap with those of more common conditions including nonalcoholic fatty liver disease, alcohol-associated liver disease, and autoimmune hepatitis. In particular, hepatic steatosis, hepatocyte glycogenated nuclei, ballooning degeneration, and Mallory-Denk bodies are often identified in Wilson disease as well as more common liver diseases. In addition, the natural history of liver damage in Wilson disease and the risk of developing liver cancer are largely understudied. Methods:We conducted an enlarged review of published papers on Wilson disease focusing on its diagnosis and distinctive clinical and liver pathology features in relation to common non-cholestatic liver diseases with the final goal in aiding clinicians in the diagnostic process of this rare but treatable condition.Conclusions: Aside from markedly altered copper metabolism, Wilson disease has essentially no pathognomonic features that can distinguish it from more common liver diseases. Clinicians should be aware of this challenge and consider Wilson disease in patients presenting with a hepatocellular pattern of liver injury.

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“…org/10.1186/s12881-020-01165-0. Table 1: Published studies about ICC development in WD patients [23][24][25].…”

Section: Supplementary Informationmentioning

confidence: 99%

Wilson disease, ABCC2 c.3972C > T polymorphism and primary liver cancers: suggestions from a familial cluster

et al. 2020

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Background Polymorphisms in genes modulating xenobiotics metabolism, in particular the ABCC2 c.3972C > T single nucleotide polymorphism (SNP) at exon 28, have been suggested to increase primary liver cancer (PLC) risk. Conversely, the occurrence of PLCs in Wilson disease patients is a rare event, in contrast with the occurrence observed in other chronic liver diseases. Here we report the clinical case of five siblings carrying the ABCC2 c.3972C > T SNP; three of them were affected by Wilson disease and two brothers with Wilson disease also developed PLCs. Methods The presence of the ABCC2 c.3972C > T SNP was assessed by Sanger sequencing and the exposure of PLC risk factors by standardized questionnaires. Results Notably, PLCs occurred only in the two brothers with the ABCC2 c.3972C > T SNP and Wilson disease who resulted exposed to asbestos and cigarette smoking, but not in the other siblings with the ABCC2 c.3972C > T SNP, alone or in association with Wilson disease, not exposed to these carcinogens and/or to other known risk factors for PLCs. Conclusions These findings suggest that ABCC2 c.3972C > T SNP and WD, also in association, may not represent a sufficient condition for PLC development, but that co-occurrence of further host/exogenous risk factors are needed to drive this process, reinforcing the notion that liver carcinogenesis is the result of a complex interplay between environmental and host genetic determinants. Due to the sporadic cases of this study and the paucity of data currently available in literature on this issue, future investigations in a larger population are needed to confirm our findings.

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Cholangiocarcinoma in Wilson’s Disease – a Case Report

Cited by 4 publications

References 14 publications

Intrahepatic Cholangiocarcinoma in Wilson’s Disease: A Case Report

Intrahepatic Cholangiocarcinoma in Wilson’s Disease: A Case Report

Wilson disease and the differential diagnosis of its hepatic manifestations: a narrative review of clinical, laboratory, and liver histological features

Wilson disease, ABCC2 c.3972C > T polymorphism and primary liver cancers: suggestions from a familial cluster

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