ArticleJournal of inherited metabolic disease2018
Hepatocellular carcinoma in Gaucher disease: an international case series.
Article in Journal of inherited metabolic disease, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 55 citations in OpenAlex.
- Gaucher disease: the hematologist's perspective of a multisystemic disorder.Annals of hematology · 2026Review
- Assessment of liver and spleen stiffness and hepatic steatosis by transient elastography (Fibroscan®) in type 1 Gaucher disease: a single center case-control cohort study.Orphanet journal of rare diseases · 2026Article
- A large long-term database of Gaucher disease patients demonstrates increased risk of lymphoma and myeloma, but not of solid tumours.Internal medicine journal · 2025Article
- French national diagnosis and care protocol (Protocole National De Diagnostic et de Soins; PNDS): Gaucher disease.Orphanet journal of rare diseases · 2025Review
- Natural disease course of chronic visceral acid sphingomyelinase deficiency in adults: A first step toward treatment criteria.Journal of inherited metabolic disease · 2025Article
- Review
- Cancer Risk in Patients with Gaucher Disease Using Real-World Data.Journal of clinical medicine · 2023Article
- The Complexities of Diagnosis with Co-Existing Gaucher Disease and Hemato-Oncology-A Case Report and Review of the Literature.Journal of clinical medicine · 2023Review
- Natural history and management of liver dysfunction in lysosomal storage disorders.World journal of hepatology · 2022Review
- Review
- Cancer risk and gammopathies in 2123 adults with Gaucher disease type 1 in the International Gaucher Group Gaucher Registry.American journal of hematology · 2022Observational
- Update on Glycosphingolipids Abundance in Hepatocellular Carcinoma.International journal of molecular sciences · 2022Review
- Increased glucosylceramide production leads to decreased cell energy metabolism and lowered tumor marker expression in non-cancerous liver cells.Cellular and molecular life sciences : CMLS · 2021Article
- C5a Activates a Pro-Inflammatory Gene Expression Profile in Human Gaucher iPSC-Derived Macrophages.International journal of molecular sciences · 2021Article
- Cytokines and Gaucher Biomarkers in Glucocerebrosidase Carriers with and Without Parkinson Disease.Movement disorders : official journal of the Movement Disorder Society · 2021Article
- Ferroptosis and Its Modulation by Autophagy in Light of the Pathogenesis of Lysosomal Storage Diseases.Cells · 2021Review
- MiRNA Expression in Patients with Gaucher Disease Treated with Enzyme Replacement Therapy.Life (Basel, Switzerland) · 2020Article
- Patient reported outcome measures in a large cohort of patients with type 1 Gaucher disease.Orphanet journal of rare diseases · 2020Article
- Liver involvement in patients with Gaucher disease types I and III.Molecular genetics and metabolism reports · 2020Article
- Immunoglobulin Abnormalities in Gaucher Disease: an Analysis of 278 Patients Included in the French Gaucher Disease Registry.International journal of molecular sciences · 2020Article
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Authors and funding
18 authors at 10 institutions in 6 countries.
Funding
Abstract
Gaucher disease (GD) is associated with an increased risk for malignancies. Next to hematological malignancies, the development of solid tumors in several organs has been described. The liver is one of the major storage sites involved in GD pathogenesis, and is also affected by liver-specific complications. In this case series, we describe 16 GD type 1 (GD1) patients from eight different referral centers around the world who developed hepatocellular carcinoma (HCC). Potential factors contributing to the increased HCC risk in GD patients are studied. Eleven patients had undergone a splenectomy in the past. Liver cirrhosis, one of the main risk factors for the development of HCC, was present in nine out of 14 patients for whom data was available. Three out of seven examined patients showed a transferrin saturation > 45%. In these three patients the presence of iron overload after histopathological examination of the liver was shown. Chronic hepatitis C infection was present in three of 14 examined cases. We summarized all findings and made a comparison to the literature. We recommend that GD patients, especially those with prior splenectomy or iron overload, be evaluated for signs of liver fibrosis and if found to be monitored for HCC development.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.