Focal liver hyperplasia in a patient with Alagille syndrome: Diagnostic difficulties. A case report

Ennaifer, Rym; Farhat, Leïla Ben; Cheikh, M. Ben; Romdhane, Habiba Ben; Ines, Marzouk; Belhadj, Najet

doi:10.1016/j.ijscr.2016.03.032

Cited by 8 publications

(15 citation statements)

References 9 publications

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“…It is thought that the diagnosis is reasonable if bile duct paucity is accompanied by 3 of the 5 main criteria [7][8][9]. In our case, bile duct paucity accompanied by the 5 main clinical criteria were established, leading to the diagnosis of ALGS [1]. In our case, heterogeneous NM_000214.2: c.703T>C at JAG1 related to Notch signaling was seen in the patient and his mother, and the autosomal dominant hereditary disorder was established.…”

Section: Discussionmentioning

confidence: 62%

“…Alagille syndrome (ALGS), acknowledged as arteriohepatic dysplasia, is a multisystem autosomal dominant disorder attributed to defects in the Notch signaling pathway [1,2]. The mutations of Jagged 1 (JAG1) gene on chromosome 20 that encodes a ligand for the Notch receptor, have been known as the basic cause of this syndrome.…”

Section: Introductionmentioning

confidence: 99%

“…Hepatic involvement is one of its main clinical features of chronic cholestasis attributed to paucity of interlobular bile ducts. Progressive liver disease, leading to liver cirrhosis occurs in about 15% of cases and may require liver transplantation (LT) [1][2][3][4][5][6][7]. These patients are at risk of hepatocellular carcinoma (HCC), therefore early detection of HCC is critical in the follow-up of this disease [7].…”

Section: Introductionmentioning

confidence: 99%

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Iron Deposit Central Large Nodule in Alagille Syndrome

Sk¹,

Fujii²,

Kobayashi³

et al. 2021

ACMCR

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Alagille syndrome (ALGS) is a multisystem autosomal dominant disorder attributed to defects in the Notch signaling pathway. The mutation of Jagged 1 (JAG1) gene on chromosome 20 has been identified as the underlying cause of this syndrome. In addition, the mutation of Ryanodine receptor 2 (RYR2) gene on chromosome 1 has clarified. Here described is a 7 × 5 cm nodular lesion in segment 4 in a 28-year-old man with ALGS. Through imaging studies and histopathological analysis, the nodule was diagnosed, for the first time, as iron deposit giant nodule. Additionally, a review of previous reports has been made to shed more light on this syndrome.This study describes the case of a 28-year-old man with a 7 × 5 cm nodular lesion in segment 4 compatible with iron deposit central large nodule detected by radiological and histopathological analysis. We also review previous reports that describe solitary focal hepatic nodules adjacent to the right portal vein as large regenerative hyperplasia.

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Section: Discussionmentioning

confidence: 62%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Iron Deposit Central Large Nodule in Alagille Syndrome

Sk¹,

Fujii²,

Kobayashi³

et al. 2021

ACMCR

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“…Lesions can manifest as regenerative nodules, as a form of compensatory hyperplasia, or as HCC. Regenerative nodules are relatively benign, homogenous masses that do not usually necessitate clinical intervention (Alhammad, Kamath, Chami, Ng, & Chavhan, 2016; Bhadri et al, 2005; Ennaifer et al, 2016; Rapp et al, 2017; Syed et al, 2008; Wetli et al, 2010). On the other end of the spectrum, HCCs are malignant, characterized by one or more heterogeneous tumor(s) prone to necrosis, hemorrhage, and metastasis (Kaufman et al, 1987; Kim et al, 2005; Syed et al, 2008).…”

Section: Discussionmentioning

confidence: 99%

Alagille syndrome and risk for hepatocellular carcinoma: Need for increased surveillance in adults with mild liver phenotypes

Schindler

Gilbert

Piccoli

et al. 2020

American J of Med Genetics Pt A

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Alagille syndrome (ALGS) is a multisystem autosomal dominant developmental disorder caused predominantly by pathogenic variants in JAGGED1 (JAG1), and also by pathogenic variants in NOTCH2 in a much smaller number of individuals. Clinical presentation is highly variable and includes liver, heart, eye, skeleton, and facial abnormalities, with a subset of individuals also presenting with kidney, vascular, and central nervous system phenotypes. Hepatocellular carcinoma (HCC) is a rare complication of ALGS, though little is known about its incidence or etiology among affected individuals. Previous reports have identified HCC occurrence in both pediatric and adult cases of ALGS. We present a case report of HCC in a 58‐year‐old woman with a pathogenic JAG1 variant and no overt hepatic features of ALGS. Through a comprehensive literature review, we compile all reported pediatric and adult cases, and further highlight one previously reported case of HCC onset in an adult ALGS patient without any hepatic disease features, similar to our own described patient. Our case report and literature review suggest that ALGS‐causing variants could confer risk for developing HCC regardless of phenotypic severity and highlight a need for a cancer screening protocol that would enable early detection and treatment in this at‐risk population.

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“…28 Lesions typically manifest as either regenerative nodules which are benign, homogeneous masses with relative preservation of interlobular bile ducts that usually do not necessitate intervention, or as hepatocellular carcinoma (HCC) which are malignant, single, or multifocal heterogeneous tumors prone to necrosis, hemorrhage, and metastasis that are largely resistant to chemotherapy but also often not appropriate for resection or liver transplantation due to extensive invasion of healthy liver tissue. [29][30][31][32][33][34][35] HCC has been documented in children and adults with ALGS phenotypes ranging from mild to severe with differing degrees of liver involvement, though little is known about its incidence, etiology, or typical manifestation age among affected individuals. 36 Case reports of adults with mild ALGS presenting with HCC and no overt ALGS liver phenotype have caused some to argue that ALGS-causing variants could predispose affected individuals to HCC by interfering with the Notch signaling.…”

Section: Hepatic Lesionsmentioning

confidence: 99%

Alagille Syndrome: A Focused Review on Clinical Features, Genetics, and Treatment

2021

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Alagille syndrome (ALGS) is an autosomal dominant disorder caused by pathogenic variants in JAG1 or NOTCH2, which encode fundamental components of the Notch signaling pathway. Clinical features span multiple organ systems including hepatic, cardiac, vascular, renal, skeletal, craniofacial, and ocular, and occur with variable phenotypic penetrance. Genotype–phenotype correlation studies have not yet shown associations between mutation type and clinical manifestations or severity, and it has been hypothesized that modifier genes may modulate the effects of JAG1 and NOTCH2 pathogenic variants. Medical management is supportive, focusing on clinical manifestations of disease, with liver transplant indicated for severe pruritus, liver synthetic dysfunction, portal hypertension, bone fractures, and/or growth failure. New therapeutic approaches are under investigation, including ileal bile acid transporter (IBAT) inhibitors and other approaches that may involve targeted interventions to augment the Notch signaling pathway in involved tissues.

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Focal liver hyperplasia in a patient with Alagille syndrome: Diagnostic difficulties. A case report

Abstract: HighlightsHepatic lesions have been infrequently reported in Alagille syndrome.Most of them have been described as hepatocellular carcinoma.Focal liver hyperplasia can also be a cause of focal lesion.Magnetic resonance imaging features can reliably differentiate them.

Cited by 8 publications

References 9 publications

Iron Deposit Central Large Nodule in Alagille Syndrome

Iron Deposit Central Large Nodule in Alagille Syndrome

Alagille syndrome and risk for hepatocellular carcinoma: Need for increased surveillance in adults with mild liver phenotypes

Alagille Syndrome: A Focused Review on Clinical Features, Genetics, and Treatment

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