Hepatoblastoma overview
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1];Associate Editor(s)-in-Chief: Nawal Muazam M.D.[2]
Overview
Hepatoblastoma is an uncommon malignant liver neoplasm occurring in infants and children and composed of tissue resembling fetal or mature liver cells or bile ducts. They usually present with an abdominal mass. Alpha-fetoprotein (AFP) commonly is elevated, but when AFP is not elevated at diagnosis the prognosis is poor.[1]
Historical Perspective
Hepatoblastoma was first described in 1958 by I. Bartok.[2]
Classification
Hepatoblastoma may be classified into two subtypes based on histology, major category and minor category.[3]
Pathophysiology
Development of hepatoblastoma is the result of multiple genetic mutations. Genes involved in the pathogenesis of hepatoblastoma include CTNNB1, CAPRIN2, SPOP, OR5I1, CDC20B. On gross pathology, hepatoblastoma is characterized by well circumscribed large masses, usually single, with heterogeneous cut surface.[4] On microscopic histopathological analysis, hepatoblastoma is characterized by: small round cell tumor, fetal hepatocytes ~ 1:3 NC ratio, eosinophilic cytoplasm (mesenchymal component), immature fibrous tissue osteoid or cartilage.[5] Hepatoblastoma is demonstrated by positivity to alpha-fetoprotein, Hepatocyte specific antigen (especially in fetal component), Beta-catenin (cytoplasmic and nuclear)[5]
Causes
There are no established causes for hepatoblastoma. The etiology of hepatoblastoma has been elusive.[2]
Epidemiology and Demographics
Hepatoblastoma is a common tumor that tends to affect children aged less than five years.[6] The annual incidence of hepatoblastoma in the United States appears to have doubled from 0.8 (1975-1983) to 1.6 (2002-2009) per 1 million children aged 19 years and younger.[7]
Risk factors
To view a comprehensive list of risk factors that increase the risk of hepatoblastoma, click here.[7]
Screening
According to the American Association for the Study of Liver Diseases and United States Preventive Services Task Force, there is insufficient evidence to recommend routine screening for hepatoblastoma.[8][9] Effective measures for the secondary prevention of hepatoblastoma include use of abdominal ultrasound and alpha-fetoprotein levels in patients with Beckwith-Wiedemann syndrome or isolated hemihyperplasia.[10]
Differentiating Hepatoblastoma from other diseases
Hepatoblastoma must be differentiated from other diseases such as hepatic mesenchymal hamartoma, hepatocellular carcinoma, hepatic metastases, infantile hemangioendothelioma, rhabdomyosarcoma of biliary tract.[11]
Natural History, Complications and Prognosis
Hepatoblastoma tends to grow rapidly. If left untreated, patients with hepatoblastoma may progress to develop failure to thrive, weight loss, rapidly enlarging abdominal mass, spontaneous rupture, hemorrhage and death.[2] Common complications of hepatoblastoma include paraneoplastic features, erythrocytosis thrombocytosis, hypocalcaemia, isosexual precocious puberty, hypoglycaemia.[2] The 5-year survival rate of children with hepatoblastoma is approximately 70%.[7]
Diagnosis
Staging
The staging of hepatoblastoma is based on the Intergroup staging system.[12]
History and Symptoms
Symptoms of hepatoblastoma include painless lump in the abdomen, abdominal pain, weight loss, loss of appetite, early puberty in boys, jaundice, nausea, vomiting, back pain, failure to thrive, rapidly enlarging abdominal mass.[2][11]
Physical examination
Common physical examination findings of hepatoblastoma include hepatomegaly, abdominal distension, asymptomatic palpable abdominal mass, hemihypertrophy, jaundice, pyrexia, anemia.[2][11]
Laboratory Findings
Laboratory tests for liver function are usually normal. An elevated concentration of alpha-fetoprotein is present in patients with hepatoblastoma.[2]
Xray
Findings on abdominal xray are nonspecific for hepatoblastoma and include right upper quadrant abdominal mass and/or calcifications in 10% of cases.[11]
CT
Abdominal CT scan may be helpful in the diagnosis of hepatoblastoma. Findings on CT scan suggestive of hepatoblastoma include well defined heterogeneous mass, frequent areas of necrosis and hemorrhage, chunky and dense calcifications.[11]
MRI
Brain MRI is helpful in the diagnosis of hepatoblastoma. On MRI, hepatoblastoma is characterized by generally hypointense on T1-weighted imaging and Generally hyperintense compared to liver with areas of necrosis and hemorrhage on T2-weighted imaging.[11]
Ultrasound
Ultrasound may be helpful in the diagnosis of hepatoblastoma. Findings on ultrasound suggestive of hepatoblastoma include echogenic soft tissue mass, well defined lesion, areas of shadowing due to intralesional calcifications.[11]
Other Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Surgery
Primary Prevention
Secondary Prevention
References
- ↑ De Ioris M, Brugieres L, Zimmermann A, Keeling J, Brock P, Maibach R, Pritchard J, Shafford L, Zsiros J, Czaudzerna P, Perilongo G (2007). "Hepatoblastoma with a low serum alpha-fetoprotein level at diagnosis: The SIOPEL group experience". Eur J Cancer. 44: 545. doi:10.1016/j.ejca.2007.11.022. PMID 18166449.
- ↑ 2.0 2.1 2.2 2.3 2.4 2.5 2.6 Madabhavi, Irappa; Patel, Apurva; Choudhary, Mukesh; Aagre, Suhas; Revannasiddaiah, Swaroop; Modi, Gaurang; Anand, Asha; Panchal, Harsha; Parikh, Sonia; Raut, Shreeniwas (2014). "Paraneoplastic Recurrent Hypoglycaemic Seizures: An Initial Presentation of Hepatoblastoma in an Adolescent Male—A Rare Entity". Case Reports in Pediatrics. 2014: 1–5. doi:10.1155/2014/104543. ISSN 2090-6803.
- ↑ Radiopaedia 2015 Hepatoblastoma>"Radiopedia 2015 Hepatoblastoma [Dr Frank Gaillard]".
- ↑ Pathology of hepatoblastoma. Dr Frank Gaillard et al. Radiopaedia 2015. http://radiopaedia.org/articles/hepatoblastoma. Accessed on November 3, 2015
- ↑ 5.0 5.1 Microscopic features of hepatoblastoma. Librepathology (2015). Accessed on http://librepathology.org/wiki/index.php/Liver_neoplasms#Hepatoblastoma. November 3, 2015
- ↑ Allan, Bassan J.; Parikh, Punam P.; Diaz, Sofia; Perez, Eduardo A.; Neville, Holly L.; Sola, Juan E. (2013). "Predictors of survival and incidence of hepatoblastoma in the paediatric population". HPB. 15 (10): 741–746. doi:10.1111/hpb.12112. ISSN 1365-182X.
- ↑ 7.0 7.1 7.2 Incidence. National Cancer Institute 2015. http://www.cancer.gov/types/liver/hp/child-liver-treatment-pdq#link/_570_toc. Accessed on October 28, 2015
- ↑ Hepatoblastoma. USPSTF. http://www.uspreventiveservicestaskforce.org/BrowseRec/Search?s=hepatoblastoma
- ↑ Hepatoblastoma. AASLD. https://www.aasld.org/search/node/hepatoblastoma%20screening
- ↑ Beckwith-Wiedemann syndrome and hemihyperplasia. National Cancer Institute (2015). http://www.cancer.gov/types/liver/hp/child-liver-treatment-pdq#link/_509_toc Accessed on November 4, 2015
- ↑ 11.0 11.1 11.2 11.3 11.4 11.5 11.6 Differential diagnosis of hepatoblastoma. Dr Frank Gaillard et al. Radiopaedia 2015. http://radiopaedia.org/articles/hepatoblastoma. Accessed on November 3, 2015
- ↑ Intergroup staging system of hepatoblastoma. Dr Frank Gaillard et al. Radiopaedia 2015. http://radiopaedia.org/articles/hepatoblastoma-staging-2. Accessed on November 3, 2015