Hepatoblastoma, Etiology, Case Reports
Authors:
A. Puchmajerová 1; A. Křepelová 1; J. Indráková 2; R. Sítková 2; I. Balaščak 3; J. Kruseová 4; K. Švojgr 4; R. Kodet 5; M. Kynčl 6; A. Vícha 4; M. Macek Jr. 1
Authors‘ workplace:
Ústav biologie a lékařské genetiky, 2. LF UK a FN v Motole, Praha
1; Úsek molekulární biologie, Laboratoř lékařské genetiky, Laboratoře AGEL a. s., Nový Jičín
2; Novorozenecké oddělení, Gynekologicko-porodnická klinika 2. LF UK a FN v Motole, Praha
3; Klinika dětské hematologie a onkologie 2. LF UK a FN v Motole, Praha
4; Ústav patologie a molekulární medicíny, 2. LF UK a FN v Motole, Praha
5; Klinika zobrazovacích metod 2. LF UK a FN v Motole, Praha
6
Published in:
Klin Onkol 2016; 29(Supplementum 1): 78-82
Category:
Review
doi:
https://doi.org/10.14735/amko2016S78
Overview
Hepatoblastoma is an uncommon malignant neoplasm in general, yet, it is the most common liver malignancy in children with the incidence about one per milion children. This type of liver tumor usually occurs before the age of three years. The etiology of hepatoblastoma remains unknown. However, there are some genetic conditions known to be associated with an increased risk of developing hepatoblastoma such as Beckwith-Wiedemann syndrome, hemihypertrophy, APC-associated polyposis, α-1-antitrypsin defficiency and some metabolic disorders including tyrosinemia, galactosemia and glycogen storage disease type 1. There is a higher risk of hepatoblastoma in children with very low birthweight, children who acquire hepatitis B at an early age and children with congenital biliary atresia.
Key words:
hepatoblastoma – α-fetoprotein – Beckwith-Wiedemann syndrome – APC-associated polyposis
This work was supported by grant from Norway NF-CZ11-PDP-3-003-2014, MH ČR –RVO, UH Motol 00064203 and OPPK – CZ-2.16.//3.1.00/24022.
The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study.
The Editorial Board declares that the manuscript met the ICMJE recommendation for biomedical papers.
Submitted:
6. 8. 2015
Accepted:
9. 9. 2015
Sources
1. Spector LG, Birch J. The epidemiology of hepatoblastoma. Pediatr Blood Cancer 2012; 59(5): 776–779. doi: 10.1002/ pbc.24215.
2. Venkatramani R, Spector LG, Georgieff M et al. Congenital abnormalities and hepatoblastoma: a report from the Children‘s Oncology Group (COG) and the Utah Population Database (UPDB). Am J Med Genet A 2014; 164A(9): 2250–2255. doi: 10.1002/ ajmg.a.36638.
3. Cohen MM Jr. Beckwith-Wiedemann syndrome: historical, clinicopathological, and etiopathogenetic perspectives. Pediatr Dev Pathol 2005; 8(3): 287–304.
4. Cooper WN, Luharia A, Evans GA et al. Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome. Eur J Hum Genet 2005; 13(9): 1025–1032.
5. Enklaar T, Zabel BU, Prawitt D. Beckwith-Wiedemann syndrome: multiple molecular mechanisms. Expert Rev Mol Med 2006; 8(17): 1–19.
6. Ilencikova D, Cizmarova M, Krajciova A et al. Clinical dysmorphic syndromes with tumorigenesis. Klin Onkol 2012; 25 (Suppl): S39–S48. doi: 10.14735/amko2012S39.
7. Shuman CB, Smith AC, Weksberg R. Beckwith-Wiedemann Syndrome. Initial posting: March 3, 2000; Last Update: December 14, 2010. Available from: http:/ / www.ncbi.nlm.nih.gov/ books/ NBK1394/ .
8. Rump P, Zeegers MP, van Essen AJ. Tumor risk in Beckwith-Wiedemann syndrome: a review and meta-analysis. Am J Med Genet A 2005; 136(1): 95–104.
9. Clericuzio CL, Chen E, McNeil DE et al. Serum alpha-fetoprotein screening for hepatoblastoma in children with Beckwith-Wiedemann syndrome or isolated hemihyperplasia. J Pediatr 2003; 143(2): 270–272.
10. Jasperson K, Burt RW. APC-associated polyposis conditions. Initial posting: December 18, 1998; Last Update: March 27, 2014. Available from: http:/ / www.ncbi.nlm.nih.gov/ books/ NBK1345/ .
11. Plevova P, Stekrova J, Kohoutova M et al. Familial adenomatous polyposis. Klin Onkol 2009; 22 (Suppl): S16–S19.
12. Lanckohr C, Debiec-Rychter M, Muller O et al. Gardner fibroma: case report and discussion of a new soft tissue tumor entity. Pathologe 2010; 31(2): 97–105. doi: 10.1007/ s00292-009-1260-y.
13. Nieuwenhuis MH, Vasen HF. Correlations between mutation site in APC and phenotype of familial adenomatous polyposis (FAP): a review of the literature. Crit Rev Oncol Hematol 2007; 61(2): 153–161.
14. Giardiello FM, Petersen GM, Brensinger JD et al. Hepatoblastoma and APC gene mutation in familial adenomatous polyposis. Gut 1996; 39(6): 867–869.
15. Hirschman BA, Pollock BH, Tomlinson GE. The spectrum of APC mutations in children with hepatoblastoma from familial adenomatous polyposis kindreds. J Pediatr 2005; 147(2): 263–266.
16. Aretz S, Uhlhaas S, Goergens H et al. MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. Int J Cancer 2006; 119(4): 807–814.
17. Guillem JG, Wood WC, Moley J et al. ASCO/ SsO review of current role of risk-reducing surgery in common hereditary cancer syndromes. J Clin Oncol 2006; 24(28): 4642–4660.
18. Herraiz M, Barbesino G, Faquin W et al. Prevalence of thyroid cancer in familial adenomatous polyposis syndrome and the role of screening ultrasound examinations. Clin Gastroenterol Hepatol 2007; 5(3): 367–373.
19. Bertagnolli MM, Eagle CJ, Zauber AG et al. Celecoxib for the prevention of sporadic colorectal adenomas. N Engl J Med 2006; 355(9): 873–884.
20. Cooper K, Squires H, Carroll C et al. Chemoprevention of colorectal cancer: systematic review and economic evaluation. Health Technol Assess 2010; 14(32): 1–206.
21. Solomon SD, Wittes J, Finn PV et al. Cardiovascular risk of celecoxib in 6 randomized placebo-controlled trials: the cross trial safety analysis. Circulation 2008; 117(16): 2104–2113. doi: 10.1161/ CIRCULATIONAHA.108.764530.
22. Giardiello FM, Yang VW, Hylind LM et al. Primary chemoprevention of familial adenomatous polyposis with sulindac. N Engl J Med 2002; 346(14): 1054–1059.
23. Lynch PM, Ayers GD, Hawk E et al. The safety and efficacy of celecoxib in children with familial adenomatous polyposis. Am J Gastroenterol 2010; 105(6): 1437–1443.
24. Gega M, Yanagi H, Yoshikawa R et al. Successful chemotherapeutic modality of doxorubicin plus dacarbazine for the treatment of desmoid tumors in association with familial adenomatous polyposis. J Clin Oncol 2006; 24(1): 102–105.
Labels
Paediatric clinical oncology Surgery Clinical oncologyArticle was published in
Clinical Oncology
2016 Issue Supplementum 1
Most read in this issue
- PALB2 as Another Candidate Gene for Genetic Testing in Patients with Hereditary Breast Cancer in Czech Republic
- Hepatoblastoma, Etiology, Case Reports
- Genetics of Colorectal Tumorigenesis (Possibilities of Testing and Screening Prediction of Hereditary Form of Colorectal Cancer – Lynch Syndrome)
- Fanconi Anemia, Complementation Group D1 Caused by Biallelic Mutations of BRCA2 Gene – Case Report