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Hepatoblastoma

MedGen UID:
61644
Concept ID:
C0206624
Neoplastic Process
Synonym: Hepatoblastomas
SNOMED CT: HBL - Hepatoblastoma (45024009); Hepatoblastoma (109843000); Hepatoblastoma of liver (109843000); Hepatoblastoma (45024009); Embryonal hepatoma (45024009)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
HPO: HP:0002884
Monarch Initiative: MONDO:0018666
OMIM®: 114550; 191170
Orphanet: ORPHA449

Definition

A kind of neoplasm of the liver that originates from immature liver precursor cells and macroscopically is composed of tissue resembling fetal or mature liver cells or bile ducts. [from HPO]

Conditions with this feature

Beckwith-Wiedemann syndrome
MedGen UID:
2562
Concept ID:
C0004903
Disease or Syndrome
Beckwith-Wiedemann syndrome (BWS) is a growth disorder variably characterized by neonatal hypoglycemia, macrosomia, macroglossia, hemihyperplasia, omphalocele, embryonal tumors (e.g., Wilms tumor, hepatoblastoma, neuroblastoma, and rhabdomyosarcoma), visceromegaly, adrenocortical cytomegaly, renal abnormalities (e.g., medullary dysplasia, nephrocalcinosis, medullary sponge kidney, and nephromegaly), and ear creases/pits. BWS is considered a clinical spectrum, in which affected individuals may have many of these features or may have only one or two clinical features. Early death may occur from complications of prematurity, hypoglycemia, cardiomyopathy, macroglossia, or tumors. However, the previously reported mortality of 20% is likely an overestimate given better recognition of the disorder along with enhanced treatment options. Macroglossia and macrosomia are generally present at birth but may have postnatal onset. Growth rate slows around age seven to eight years. Hemihyperplasia may affect segmental regions of the body or selected organs and tissues.
Aicardi syndrome
MedGen UID:
61236
Concept ID:
C0175713
Disease or Syndrome
Aicardi syndrome is a neurodevelopmental disorder that affects primarily females. Initially it was characterized by a typical triad of agenesis of the corpus callosum, central chorioretinal lacunae, and infantile spasms. As more affected individuals have been ascertained, it has become clear that not all affected girls have all three features of the classic triad and that other neurologic and systemic defects are common, including other brain malformations, optic nerve abnormalities, other seizure types, intellectual disability of varying severity, and scoliosis.
Schinzel-Giedion syndrome
MedGen UID:
120517
Concept ID:
C0265227
Disease or Syndrome
Schinzel-Giedion syndrome is a highly recognizable syndrome characterized by severe mental retardation, distinctive facial features, and multiple congenital malformations including skeletal abnormalities, genitourinary and renal malformations, and cardiac defects, as well as a higher-than-normal prevalence of tumors, notably neuroepithelial neoplasia (summary by Hoischen et al., 2010).
Phosphate transport defect
MedGen UID:
87455
Concept ID:
C0342749
Disease or Syndrome
Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term).
Simpson-Golabi-Behmel syndrome type 1
MedGen UID:
162917
Concept ID:
C0796154
Disease or Syndrome
Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is characterized by pre- and postnatal macrosomia; distinctive craniofacial features (including macrocephaly, coarse facial features, macrostomia, macroglossia, and palatal abnormalities); and commonly, mild-to-severe intellectual disability with or without structural brain anomalies. Other variable findings include supernumerary nipples, diastasis recti / umbilical hernia, congenital heart defects, diaphragmatic hernia, genitourinary defects, and gastrointestinal anomalies. Skeletal anomalies can include vertebral fusion, scoliosis, rib anomalies, and congenital hip dislocation. Hand anomalies can include large hands and postaxial polydactyly. Affected individuals are at increased risk for embryonal tumors including Wilms tumor, hepatoblastoma, adrenal neuroblastoma, gonadoblastoma, hepatocellular carcinoma, and medulloblastoma.
Familial adenomatous polyposis 1
MedGen UID:
398651
Concept ID:
C2713442
Disease or Syndrome
APC-associated polyposis conditions include (classic or attenuated) familial adenomatous polyposis (FAP) and gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS). FAP is a colorectal cancer (CRC) predisposition syndrome that can manifest in either classic or attenuated form. Classic FAP is characterized by hundreds to thousands of adenomatous colonic polyps, beginning on average at age 16 years (range 7-36 years). For those with the classic form of FAP, 95% of individuals have polyps by age 35 years; CRC is inevitable without colectomy. The mean age of CRC diagnosis in untreated individuals is 39 years (range 34-43 years). The attenuated form is characterized by multiple colonic polyps (average of 30), more proximally located polyps, and a diagnosis of CRC at a later age than in classic FAP. For those with an attenuated form, there is a 70% lifetime risk of CRC and the mean age of diagnosis is 50-55 years. Extracolonic manifestations are variably present and include polyps of the stomach and duodenum, osteomas, dental abnormalities, congenital hypertrophy of the retinal pigment epithelium (CHRPE), benign cutaneous lesions, desmoid tumors, adrenal masses, and other associated cancers. GAPPS is characterized by proximal gastric polyposis, increased risk of gastric adenocarcinoma, and no duodenal or colonic involvement in most individuals reported.

Professional guidelines

PubMed

Sheng J, Kohno S, Okada N, Okahashi N, Teranishi K, Matsuda F, Shimizu H, Linn P, Nagatani N, Yamamura M, Harada K, Horike SI, Inoue H, Yano S, Kumar S, Kitajima S, Ajioka I, Takahashi C
Hepatology 2021 Oct;74(4):1971-1993. Epub 2021 Aug 25 doi: 10.1002/hep.31872. PMID: 33931882
Freyer DR, Brock PR, Chang KW, Dupuis LL, Epelman S, Knight K, Mills D, Phillips R, Potter E, Risby D, Simpkin P, Sullivan M, Cabral S, Robinson PD, Sung L
Lancet Child Adolesc Health 2020 Feb;4(2):141-150. Epub 2019 Dec 19 doi: 10.1016/S2352-4642(19)30336-0. PMID: 31866182Free PMC Article
Towbin AJ, Meyers RL, Woodley H, Miyazaki O, Weldon CB, Morland B, Hiyama E, Czauderna P, Roebuck DJ, Tiao GM
Pediatr Radiol 2018 Apr;48(4):536-554. Epub 2018 Feb 9 doi: 10.1007/s00247-018-4078-z. PMID: 29427028

Recent clinical studies

Etiology

Meyers R, Hiyama E, Czauderna P, Tiao GM
Surg Oncol Clin N Am 2021 Apr;30(2):253-274. doi: 10.1016/j.soc.2020.11.006. PMID: 33706899
Ranganathan S, Lopez-Terrada D, Alaggio R
Pediatr Dev Pathol 2020 Mar-Apr;23(2):79-95. Epub 2019 Sep 25 doi: 10.1177/1093526619875228. PMID: 31554479
Ng K, Mogul DB
Clin Liver Dis 2018 Nov;22(4):753-772. Epub 2018 Aug 24 doi: 10.1016/j.cld.2018.06.008. PMID: 30266161
Towbin AJ, Meyers RL, Woodley H, Miyazaki O, Weldon CB, Morland B, Hiyama E, Czauderna P, Roebuck DJ, Tiao GM
Pediatr Radiol 2018 Apr;48(4):536-554. Epub 2018 Feb 9 doi: 10.1007/s00247-018-4078-z. PMID: 29427028
Zsiros J, Brugieres L, Brock P, Roebuck D, Maibach R, Zimmermann A, Childs M, Pariente D, Laithier V, Otte JB, Branchereau S, Aronson D, Rangaswami A, Ronghe M, Casanova M, Sullivan M, Morland B, Czauderna P, Perilongo G; International Childhood Liver Tumours Strategy Group (SIOPEL)
Lancet Oncol 2013 Aug;14(9):834-42. Epub 2013 Jul 4 doi: 10.1016/S1470-2045(13)70272-9. PMID: 23831416Free PMC Article

Diagnosis

Castle JT, Levy BE, Rodeberg DA
Surg Clin North Am 2022 Oct;102(5):715-737. Epub 2022 Sep 7 doi: 10.1016/j.suc.2022.07.006. PMID: 36209742
Morgan Auld F, Sergi CM
Int J Surg Pathol 2022 Aug;30(5):480-491. Epub 2022 Jan 20 doi: 10.1177/10668969211070178. PMID: 35048730Free PMC Article
Meyers R, Hiyama E, Czauderna P, Tiao GM
Surg Oncol Clin N Am 2021 Apr;30(2):253-274. doi: 10.1016/j.soc.2020.11.006. PMID: 33706899
Ranganathan S, Lopez-Terrada D, Alaggio R
Pediatr Dev Pathol 2020 Mar-Apr;23(2):79-95. Epub 2019 Sep 25 doi: 10.1177/1093526619875228. PMID: 31554479
Ng K, Mogul DB
Clin Liver Dis 2018 Nov;22(4):753-772. Epub 2018 Aug 24 doi: 10.1016/j.cld.2018.06.008. PMID: 30266161

Therapy

Wu PV, Rangaswami A
Curr Oncol Rep 2022 Sep;24(9):1209-1218. Epub 2022 Apr 19 doi: 10.1007/s11912-022-01230-2. PMID: 35438389
Freyer DR, Brock PR, Chang KW, Dupuis LL, Epelman S, Knight K, Mills D, Phillips R, Potter E, Risby D, Simpkin P, Sullivan M, Cabral S, Robinson PD, Sung L
Lancet Child Adolesc Health 2020 Feb;4(2):141-150. Epub 2019 Dec 19 doi: 10.1016/S2352-4642(19)30336-0. PMID: 31866182Free PMC Article
Towbin AJ, Meyers RL, Woodley H, Miyazaki O, Weldon CB, Morland B, Hiyama E, Czauderna P, Roebuck DJ, Tiao GM
Pediatr Radiol 2018 Apr;48(4):536-554. Epub 2018 Feb 9 doi: 10.1007/s00247-018-4078-z. PMID: 29427028
Sharma D, Subbarao G, Saxena R
Semin Diagn Pathol 2017 Mar;34(2):192-200. Epub 2016 Dec 23 doi: 10.1053/j.semdp.2016.12.015. PMID: 28126357
Mei N, Guo X, Ren Z, Kobayashi D, Wada K, Guo L
J Environ Sci Health C Environ Carcinog Ecotoxicol Rev 2017 Jan 2;35(1):1-28. doi: 10.1080/10590501.2016.1278298. PMID: 28055331Free PMC Article

Prognosis

Song H, Bucher S, Rosenberg K, Tsui M, Burhan D, Hoffman D, Cho SJ, Rangaswami A, Breese M, Leung S, Ventura MVP, Sweet-Cordero EA, Huang FW, Nijagal A, Wang B
Nat Commun 2022 Aug 25;13(1):4878. doi: 10.1038/s41467-022-32473-z. PMID: 36008377Free PMC Article
Freyer DR, Brock PR, Chang KW, Dupuis LL, Epelman S, Knight K, Mills D, Phillips R, Potter E, Risby D, Simpkin P, Sullivan M, Cabral S, Robinson PD, Sung L
Lancet Child Adolesc Health 2020 Feb;4(2):141-150. Epub 2019 Dec 19 doi: 10.1016/S2352-4642(19)30336-0. PMID: 31866182Free PMC Article
Khanna R, Verma SK
World J Gastroenterol 2018 Sep 21;24(35):3980-3999. doi: 10.3748/wjg.v24.i35.3980. PMID: 30254403Free PMC Article
Brock PR, Maibach R, Childs M, Rajput K, Roebuck D, Sullivan MJ, Laithier V, Ronghe M, Dall'Igna P, Hiyama E, Brichard B, Skeen J, Mateos ME, Capra M, Rangaswami AA, Ansari M, Rechnitzer C, Veal GJ, Covezzoli A, Brugières L, Perilongo G, Czauderna P, Morland B, Neuwelt EA
N Engl J Med 2018 Jun 21;378(25):2376-2385. doi: 10.1056/NEJMoa1801109. PMID: 29924955Free PMC Article
Sharma D, Subbarao G, Saxena R
Semin Diagn Pathol 2017 Mar;34(2):192-200. Epub 2016 Dec 23 doi: 10.1053/j.semdp.2016.12.015. PMID: 28126357

Clinical prediction guides

Song H, Bucher S, Rosenberg K, Tsui M, Burhan D, Hoffman D, Cho SJ, Rangaswami A, Breese M, Leung S, Ventura MVP, Sweet-Cordero EA, Huang FW, Nijagal A, Wang B
Nat Commun 2022 Aug 25;13(1):4878. doi: 10.1038/s41467-022-32473-z. PMID: 36008377Free PMC Article
Arzumanian VA, Kiseleva OI, Poverennaya EV
Int J Mol Sci 2021 Dec 4;22(23) doi: 10.3390/ijms222313135. PMID: 34884942Free PMC Article
Meyers RL, Maibach R, Hiyama E, Häberle B, Krailo M, Rangaswami A, Aronson DC, Malogolowkin MH, Perilongo G, von Schweinitz D, Ansari M, Lopez-Terrada D, Tanaka Y, Alaggio R, Leuschner I, Hishiki T, Schmid I, Watanabe K, Yoshimura K, Feng Y, Rinaldi E, Saraceno D, Derosa M, Czauderna P
Lancet Oncol 2017 Jan;18(1):122-131. Epub 2016 Nov 22 doi: 10.1016/S1470-2045(16)30598-8. PMID: 27884679Free PMC Article
Zsiros J, Brugieres L, Brock P, Roebuck D, Maibach R, Zimmermann A, Childs M, Pariente D, Laithier V, Otte JB, Branchereau S, Aronson D, Rangaswami A, Ronghe M, Casanova M, Sullivan M, Morland B, Czauderna P, Perilongo G; International Childhood Liver Tumours Strategy Group (SIOPEL)
Lancet Oncol 2013 Aug;14(9):834-42. Epub 2013 Jul 4 doi: 10.1016/S1470-2045(13)70272-9. PMID: 23831416Free PMC Article
Murray MJ, Nicholson JC
Arch Dis Child Educ Pract Ed 2011 Aug;96(4):141-7. Epub 2011 May 25 doi: 10.1136/adc.2011.213181. PMID: 21613305

Recent systematic reviews

Wu B, Zhen K, Guo L, Sun C
Technol Cancer Res Treat 2022 Jan-Dec;21:15330338221087830. doi: 10.1177/15330338221087830. PMID: 35532186Free PMC Article
Pateva IB, Egler RA, Stearns DS
Medicine (Baltimore) 2017 Jan;96(2):e5858. doi: 10.1097/MD.0000000000005858. PMID: 28079820Free PMC Article
Celotti A, D'Amico G, Ceresoli M, Tomasoni M, Raimondo S, Baggi P, Baiocchi GL
Surg Oncol 2016 Sep;25(3):339-47. Epub 2016 Jul 20 doi: 10.1016/j.suronc.2016.07.003. PMID: 27566042
Goodwin CR, Abu-Bonsrah N, Boone C, Ruiz-Valls A, Sankey EW, Sarabia-Estrada R, Elder BD, Kosztowski T, Sciubba DM
J Clin Neurosci 2016 May;27:22-7. Epub 2016 Jan 8 doi: 10.1016/j.jocn.2015.11.003. PMID: 26778049
Wang YX, Liu H
Dig Surg 2012;29(4):323-30. Epub 2012 Oct 12 doi: 10.1159/000342910. PMID: 23075604

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