Hepatocellular Carcinoma in Type 1 Gaucher Disease: A Case Report with Review of the Literature

Xu, Ruliang; Mistry, Pramod K.; McKenna, G.; Emre, Sukru; Schiano, Thomas D.; Bu-Ghanim, Moueen; Levi, Gabriel; Fiel, M. Isabel

doi:10.1055/s-2005-871201

Cited by 31 publications

(23 citation statements)

References 12 publications

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“…Malignancy in the reported patient resembles several individual published cases (Breiden-Langen et al 1991;Erjavec et al 1999;Xu et al 2005). In two of them (Breiden-Langen et al 1991;Xu et al 2005) simultaneous presence of hepatitis type B was considered to be main oncogenic factor.…”

Section: Discussionsupporting

confidence: 63%

Autopsy case of Gaucher disease type I in a patient on enzyme replacement therapy. Comments on the dynamics of persistent storage process

Hůlková

Ledvinová

Poupětová

et al. 2009

J of Inher Metab Disea

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We report a female patient with Gaucher disease (GD) type I on ERT (imiglucerase) for 5 years, which led to a significant general improvement. Aged 59 years she underwent an episode of altitude sickness followed by sepsis, disseminated intravascular coagulation, and multiorgan failure. She succumbed to a cerebral haemorrhage. Autopsy revealed liver cholestatic cirrhosis and multifocal liver carcinoma with immunophenotype compatible with cholangiocarcinoma. Analysis of the storage process revealed its absence or very low levels in the majority of liver and spleen macrophages. Gaucher cells (GCs) were seen only as occasional aggregates of various sizes in these organs. GCs were seen also in the leptomeninx of the cerebellum and as infrequent perivascular clusters in both the grey and white cerebral matters. Bone marrow was heavily infiltrated with GCs, especially in the adipocyte-rich part. GCs in this location displayed varied degrees of cytoplasmic vacuolation unrelated to the lysosomal compartment, caused by droplets of triglyceride, and interpreted as due to resorption of fragments of altered white adipocytes. All these observations point to the relative efficacy of ERT in covering the standard substrate load, which should not be exceeded as it would lead to the evolution of mature GCs. The results are discussed in relation to our recently published hypothesis on GD cell pathology.

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Section: Discussionsupporting

confidence: 63%

Autopsy case of Gaucher disease type I in a patient on enzyme replacement therapy. Comments on the dynamics of persistent storage process

Hůlková

Ledvinová

Poupětová

et al. 2009

J of Inher Metab Disea

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“…The development of solid tumours in adults with type 1 GD has also been reported in the lung, bone, spleen, breast, prostate, colon, brain and liver (Xu et al 2005): all of them being organs that harbour Gaucher cells. Specifically looking at liver -3 cases of hepatocellular carcinoma in Gaucher disease have been reported so far (Xu et al 2005), all in adults. Multiple lesions on radiological examination and HbsAg positivity were present in the case reported in this paper.…”

Section: Introductionmentioning

confidence: 86%

“…However increased risk of malignancies especially haematological is well documented in adult patients with GD (Mistry et al 2013). The development of solid tumours in adults with type 1 GD has also been reported in the lung, bone, spleen, breast, prostate, colon, brain and liver (Xu et al 2005): all of them being organs that harbour Gaucher cells. Specifically looking at liver -3 cases of hepatocellular carcinoma in Gaucher disease have been reported so far (Xu et al 2005), all in adults.…”

Section: Introductionmentioning

confidence: 98%

“…Multiple lesions on radiological examination and HbsAg positivity were present in the case reported in this paper. The other patient included in the review (Xu et al 2005, patient described in reference 5) had a singe echodense hepatic lesion with metastatic peritoneal deposits having had a previous normal AFP and being HbsAg negative. Thus there are do not appear to be clear diagnostic indicators for predicting HCC in patients with GD.…”

Section: Introductionmentioning

confidence: 99%

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Rare Case of Hepatic Gaucheroma in a Child on Enzyme Replacement Therapy

et al. 2016

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“…In the literature, there are reports of increased risk GD associated hepatocellular carcinoma (HCC) [26][27][28] . In a recent survey, the risk of development of HCC in GD patients is found to be 141 times more than normal controls [29] .…”

Section: Frequency Of Mutations (%)mentioning

confidence: 99%

Gaucher disease: New developments in treatment and etiology

Harmancı

Bayraktar²

2008

WJG

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Gaucher disease (GD) is an autosomal recessive disease which if undiagnosed or diagnosed late results in devastating complications. Because of the heterozygous nature of GD, there is a wide spectrum of clinical presentation. Clinicians should be aware of this rare but potentially treatable disease in patients who present with unexplained organomegaly, anemia, massive splenomegaly, ascites and even cirrhosis of unknown origin. The treatment options for adult type GD include enzyme replacement treatment (ERT) and substrate reduction treatment (SRT) depending on the status of the patient. Future treatment options are gene therapy and "smart molecules" which provide specific cure and additional treatment options. In this review, we present the key issues about GD and new developments that gastroenterologists should be aware of.

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Hepatocellular Carcinoma in Type 1 Gaucher Disease: A Case Report with Review of the Literature

Cited by 31 publications

References 12 publications

Autopsy case of Gaucher disease type I in a patient on enzyme replacement therapy. Comments on the dynamics of persistent storage process

Autopsy case of Gaucher disease type I in a patient on enzyme replacement therapy. Comments on the dynamics of persistent storage process

Rare Case of Hepatic Gaucheroma in a Child on Enzyme Replacement Therapy

Gaucher disease: New developments in treatment and etiology

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