A Challenging Case of Hepatoblastoma Concomitant with Autosomal Recessive Polycystic Kidney Disease and Caroli Syndrome—Review of the Literature

Kadakia, Nevil; Lobritto, Steven; Ovchinsky, Nadia; Remotti, Helen; Yamashiro, Darrell J.; Emond, Jean C.; Martínez, Mercedes

doi:10.3389/fped.2017.00114

Cited by 9 publications

(10 citation statements)

References 18 publications

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“…Prognostic significance of several HB pathology variants. In the past, several HB variants have been postulated to be associated with inferior survival of patients (that is, microtrabecular or anaplastic variant) 18 , 19 . On the contrary, pure fetal well-differentiated HB (PF-HB) was associated with very good survival which was proven in subsequent COG studies.…”

Section: Controversiesmentioning

confidence: 99%

Hepatoblastoma: current understanding, recent advances, and controversies

Czauderna

Garnier

2018

F1000Res

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Introduction: Hepatoblastoma (HB) is the most common primary malignant liver neoplasm in children. Its increasing survival rate is related to the progress in modern imaging, surgical techniques, and new chemotherapy regimens. Clinical approach: One of the past achievements was the development of the pretreatment extension of disease (PRETEXT) system. Gradually, the HB therapeutic approach has become more individualized with better stratification of patients. Controversies: These include the need for preoperative chemotherapy and its optimal duration; intensity of preoperative chemotherapy required for locally advanced cases (PRETEXT 4); optimal surgical treatment for locally advanced tumors: aggressive hepatic resections versus liver transplantation; the role of postoperative chemotherapy in the post-transplant setting; the timing and role of metastasectomy in patients with disseminated disease who undergo partial liver resection; and the prognostic significance of several HB pathology variants. Hepatoblastoma biology: Beta-catenin mutations and the beta-catenin/Wnt pathway play an important role in HB development. There have been at least two molecular signatures in HB published. Unluckily, all of these findings are based on relatively small clinical series and require confirmation. Conclusion: The treatment of HB started from one and the same therapy for all patients and aimed at increased treatment individualization, but the future seems to lie in biology-driven patient-tailored therapies.

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Section: Controversiesmentioning

confidence: 99%

Hepatoblastoma: current understanding, recent advances, and controversies

Czauderna

Garnier

2018

F1000Res

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“…Quite often, CS is associated with autosomal recessive polycystic kidney disease (ARPKD) [3]. Left untreated, pathology in CS is progressive and can lead to clinical complications including frequent episodes of bacterial cholangitis, formation of bile stones, portal hypertension, hepatobiliary degeneration, and cholangiocarcinoma [4,5,6,7]. Hepatic transplantation is indicated once severe cholangitis, malignant transformation, or even suspicion of malignancy is present.…”

Section: Introductionmentioning

confidence: 99%

Remodeling of Intrahepatic Ducts in a Model of Caroli Syndrome: Is Scar Carcinoma a Consequence of Laplace’s Law?

et al. 2019

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Caroli syndrome, characterized by saccular dilatation of intrahepatic ducts and congenital hepatic fibrosis, is without therapy in part due to its ultra-rare prevalence and the apparent lack of availability of a suitable experimental model. While the PCK rat has long been used as a model of fibropolycystic kidney disease, hepatobiliary biophysics in this animal model is incompletely characterized. Compared to age-matched, wild-type controls, the PCK rat demonstrated severe hepatomegaly and large saccular dilated intrahepatic ducts. Nevertheless, hepatic density was greater in the PCK rat, likely due to severe duct wall sclerosis accompanied by scarring across the hepatic parenchyma. Extracellular matrix accumulation appeared proportional to duct cross-sectional area and liver volume and appeared compensatory in nature. The PCK rat livers exhibited both cholangiocarcinoma and hepatocellular carcinoma coincident with areas of increased extracellular matrix deposition. Together, these data suggest that the PCK rat model mimics at least in part the spectrum of hepatobiliary pathology observed in Caroli syndrome and highlights the attendant risk associated with this disease.

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“…It can manifest with hepatic fibrosis alone, or it can be an important component of various fibrocystic diseases involving multiple systems ( Supplementary Table S2) [38][39][40][41][42][43]. Also, CHF is observed in X-linked and autosomal dominant inherited disease like oral-facial-digital syndrome type 1 and autosomal dominant polycystic kidney disease (ADPKD), respectively, and is reported in Prader-Willi syndrome, abernethy malformation, and different types of hepatic 5 Gastroenterology Research and Practice nodules (e.g., hepatocellular adenoma and hepatoblastoma) in individual case reports [44][45][46][47]. In our cases, we found that CHF could coexist with CBA and ABCB4 mutation, but their association with CHF has not been verified.…”

Section: Discussionmentioning

confidence: 99%

Congenital Hepatic Fibrosis in Children and Adults: Clinical Manifestations, Management, and Outcome—Case Series and Literature Review

Zhu

Wang

et al. 2020

Gastroenterology Research and Practice

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Background. Congenital hepatic fibrosis is a hereditary fibropolycystic disease caused by ductal plate malformation. It is characterized by portal hypertension, but the manifestations, management, and outcome vary in children and adults. To raise awareness of medical staff, we have comprehensively compared the clinical features of congenital hepatic fibrosis between children and adults. Methods. We retrospectively enrolled all patients diagnosed with congenital hepatic fibrosis at the Huashan Hospital from August 2015 to August 2017 and analyzed their familial, clinical, laboratory, imaging, treatment, and follow-up data in detail. In addition, we reviewed cases with congenital hepatic fibrosis reported in the past 20 years in China and analyzed them according to the patients’ age. Results. A total of eight patients were diagnosed with congenital hepatic fibrosis in the study, including four children and four adults. The onset age of the children, who suffered from severe complications of portal hypertension and needed liver transplantation, ranged from 1 to 15 years old. The disorder developed in adults aged 26 to 60 years old. Three adults complained of recurrent abnormal liver function at the onset of illness, and they mainly received conservative treatments. The literature review included 30 children and 33 adults. In comparison, hepatomegaly was more common in children than in adults (57% vs. 21%, p=0.004). Malformation of kidneys and bile duct abnormalities were common, and multisystem involvement included eyes, other digestive organs, and genital and central nervous systems. Conclusions. Serious complications of portal hypertension developed in children requiring liver transplantation, while adults often had mild-to-moderate liver injuries upon onset. Adults with CHF varied a lot in clinical manifestations. Multiorgan involvement and unusual course are helpful to make a diagnosis. Timely histological assessment by liver biopsy and multidisciplinary cooperation are crucial for definitive diagnosis and early intervention.

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A Challenging Case of Hepatoblastoma Concomitant with Autosomal Recessive Polycystic Kidney Disease and Caroli Syndrome—Review of the Literature

Cited by 9 publications

References 18 publications

Hepatoblastoma: current understanding, recent advances, and controversies

Hepatoblastoma: current understanding, recent advances, and controversies

Remodeling of Intrahepatic Ducts in a Model of Caroli Syndrome: Is Scar Carcinoma a Consequence of Laplace’s Law?

Congenital Hepatic Fibrosis in Children and Adults: Clinical Manifestations, Management, and Outcome—Case Series and Literature Review

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