Hepatoblastoma: Difference between revisions
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***Macrotubular small cell undifferentiated (SCU) | ***Macrotubular small cell undifferentiated (SCU) | ||
***Cholangioblastic | ***Cholangioblastic | ||
**Mixed epithelial and mesenchymal type (MEM-HB). while the mixed type is subdivided into | **Mixed epithelial and mesenchymal type (MEM-HB). while the mixed type is subdivided into | ||
***Stromal derivatives | ***Stromal derivatives | ||
Revision as of 19:29, 21 December 2018
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Hepatoblastoma Microchapters |
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Hepatoblastoma On the Web |
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American Roentgen Ray Society Images of Hepatoblastoma |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Nima Nasiri, M.D.[2] Nawal Muazam M.D.[3]
Synonyms and keywords: Epithelial hepatoblastoma; Fetal hepatoblastoma; Embryonal hepatoblatoma; Macrotrabecular hepatoblastoma; Mixed hepatoblastoma; Rhabdoid hepatoblastoma; Small cell hepatoblastoma; Undifferentiated hepatoblastoma; Cholangioblastic hepatoblastoma; Teratoid hepatoblastoma; Chondroid hepatoblastoma; Osteoid hepatoblastoma; Rhabdomyoblastic hepatoblastoma; Neuroid-melanocytic hepatoblastoma; Well differentiated hepatoblastoma; HB
Overview
Historical Perspective
- In 1898, the first case of a child with HB was published in the English literature. A 6-week-old boy was described whose autopsy showed a large tumor that occupied the lower half of the right liver lobe.[1]
Classification
- Hepatoblastoma are divided into 2 broad categories:[2][3]
- Epithelial type (E-HB)
- Fetal
- Well differentiated
- Crowded or mitotically active
- Pleomorphic
- Poorly differentiated
- Anaplastic
- Embryonal
- Macrotubular small cell undifferentiated (SCU)
- Cholangioblastic
- Fetal
- Mixed epithelial and mesenchymal type (MEM-HB). while the mixed type is subdivided into
- Stromal derivatives
- Teratoid variants
- Epithelial type (E-HB)
Pathophysiology
- The exact pathogenesis of hepatoblastoma is not fully understood. [4]
- Loss of function mutations in APC leads to intracellular accumulation of the protooncogene b-catenin, an effector of Wnt signal transduction.
- Hepatoblastomas originate from primitive hepatic stem cells.
- B-catenin mutations have been shown to be common in the majority of sporadic hepatoblastomas.
- Studies revealed that tumor occurs more often in families affected by Familial adenomatous polyposis(FAP), which is caused by inactivation of the adenomatous polyposis coli(APC), a tumor-suppressor gene that down-regulate the amount of b-catenin.
Causes
- Underlying causes of hepatoblastoma poorly understood and most tumors are sporadic but there are some risk factors and conditions that have a strong association with this tumor such as:[5][6][7]
- Beckwith-Weidemann,
- Familial adenomatous polyposis (FAP)
- Down syndrome
- Edward syndrome (trisomy 18)
- Nephroblastoma,
- Low birth weight infants are at higher risk of developing a hepatoblastoma
- Preeclampsia
- Parental tobacco smoking
- Oxygen therapy
- Certain medication (furosemide)
- Radiation
- Total parenteral nutrition (TPN)
- The most common genetic mutation which plays role in etiology of sporadic cases include:[8]
- The Wnt signaling pathway which results in the accumulation of beta-catenin
Differentiating hepatoblastoma from Other Diseases
- Hepatoblastoma must be differentiated from other diseases that cause rapidly enlarging abdominal mass in pediatrics such as:[9]
- Hepatocellular carcinoma (HCC),
- Focal nodular hyperplasia
- Hepatic adenoma
- Lymphoma, and metastases
Epidemiology and Demographics
The incidence/prevalence of [disease name] is approximately [number range] per 100,000 individuals worldwide.
Risk Factors
- Common risk factors in the development of hepatoblastoma include:[5]
- Low birth weight infants
- Preeclampsia
- Fetal distress
- Premature labor
- Chromosomal anomalies such as Down syndrome, Edward syndrome.
- Parental tobacco smoking before and during pregnancy
- Oxygen therapy,
- Certain medication (furosemide)
- Total parenteral nutrition (TPN)
Screening
There is insufficient evidence to recommend routine screening for [disease/malignancy].
OR
According to the [guideline name], screening for [disease name] is not recommended.
OR
According to the [guideline name], screening for [disease name] by [test 1] is recommended every [duration] among patients with [condition 1], [condition 2], and [condition 3].
Natural History, Complications, and Prognosis
If left untreated, [#]% of patients with [disease name] may progress to develop [manifestation 1], [manifestation 2], and [manifestation 3].
OR
Common complications of [disease name] include [complication 1], [complication 2], and [complication 3].
OR
Prognosis is generally excellent/good/poor, and the 1/5/10-year mortality/survival rate of patients with [disease name] is approximately [#]%.
Diagnosis
Diagnostic Study of Choice
The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met: [criterion 1], [criterion 2], [criterion 3], and [criterion 4].
OR
The diagnosis of [disease name] is based on the [criteria name] criteria, which include [criterion 1], [criterion 2], and [criterion 3].
OR
The diagnosis of [disease name] is based on the [definition name] definition, which includes [criterion 1], [criterion 2], and [criterion 3].
OR
There are no established criteria for the diagnosis of [disease name].
History and Symptoms
The majority of patients with [disease name] are asymptomatic.
OR
The hallmark of [disease name] is [finding]. A positive history of [finding 1] and [finding 2] is suggestive of [disease name]. The most common symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3]. Common symptoms of [disease] include [symptom 1], [symptom 2], and [symptom 3]. Less common symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3].
Physical Examination
- Physical examination of patients with hepatoblastoma is usually remarkable for single, mildly painful, rapidly enlarging abdominal mass that is found in the right lobe of the liver.[10][9]
- Most tumors are solitary; but can be multifocal as well.
Laboratory Findings
An elevated/reduced concentration of serum/blood/urinary/CSF/other [lab test] is diagnostic of [disease name].
OR
Laboratory findings consistent with the diagnosis of [disease name] include [abnormal test 1], [abnormal test 2], and [abnormal test 3].
OR
[Test] is usually normal among patients with [disease name].
OR
Some patients with [disease name] may have elevated/reduced concentration of [test], which is usually suggestive of [progression/complication].
OR
There are no diagnostic laboratory findings associated with [disease name].
Electrocardiogram
- There are no ECG findings associated with hepatoblastoma.
X-ray
- Chest X-rays can be useful especially since this tumor has the affinity to metastasize to lungs.
Echocardiography or Ultrasound
- Imaging studies play an important role in the diagnosis, staging, and treatment of disease, most tumors can be resected surgically and ultrasound is often used in order to detect tumor size, also the initial diagnosis is made by abdominal ultrasound.
CT scan
There are no CT scan findings associated with [disease name].
OR
[Location] CT scan may be helpful in the diagnosis of [disease name]. Findings on CT scan suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
OR
There are no CT scan findings associated with [disease name]. However, a CT scan may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].
MRI
There are no MRI findings associated with [disease name].
OR
[Location] MRI may be helpful in the diagnosis of [disease name]. Findings on MRI suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
OR
There are no MRI findings associated with [disease name]. However, a MRI may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].
Other Imaging Findings
There are no other imaging findings associated with [disease name].
OR
[Imaging modality] may be helpful in the diagnosis of [disease name]. Findings on an [imaging modality] suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
Other Diagnostic Studies
There are no other diagnostic studies associated with [disease name].
OR
[Diagnostic study] may be helpful in the diagnosis of [disease name]. Findings suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
OR
Other diagnostic studies for [disease name] include [diagnostic study 1], which demonstrates [finding 1], [finding 2], and [finding 3], and [diagnostic study 2], which demonstrates [finding 1], [finding 2], and [finding 3].
Treatment
Medical Therapy
- The mainstay of therapy for hepatoblastoma is surgery, however, the vast majority of the tumors cannot be completely resected because of their large size or metastasis.[11]
- Liver transplantation can be considered for tumors that cannot be removed by surgery.
- Chemotherapy is an important adjuvant therapy, and cisplatin is the most commonly used chemotherapeutic agent, it can reduce the volume of tumors that are too big for surgical removal.[12]
Surgery
- Surgery is the mainstay of treatment for hepatoblastoma.[13]
- The feasibility of surgery depends on the resectability of tumor at diagnosis.
Primary Prevention
There are no established measures for the primary prevention of hepatoblastoma.
Secondary Prevention
There are no established measures for the secondary prevention of [disease name].
OR
Effective measures for the secondary prevention of [disease name] include [strategy 1], [strategy 2], and [strategy 3].
References
- ↑ Aronson DC, Czauderna P, Maibach R, Perilongo G, Morland B (October 2014). "The treatment of hepatoblastoma: Its evolution and the current status as per the SIOPEL trials". J Indian Assoc Pediatr Surg. 19 (4): 201–7. doi:10.4103/0971-9261.142001. PMC 4204244. PMID 25336801.
- ↑ Rowland JM (November 2002). "Hepatoblastoma: assessment of criteria for histologic classification". Med. Pediatr. Oncol. 39 (5): 478–83. doi:10.1002/mpo.10171. PMID 12228903.
- ↑ Czauderna P, Lopez-Terrada D, Hiyama E, Häberle B, Malogolowkin MH, Meyers RL (February 2014). "Hepatoblastoma state of the art: pathology, genetics, risk stratification, and chemotherapy". Curr. Opin. Pediatr. 26 (1): 19–28. doi:10.1097/MOP.0000000000000046. PMID 24322718.
- ↑ MacDonald BT, Tamai K, He X (July 2009). "Wnt/beta-catenin signaling: components, mechanisms, and diseases". Dev. Cell. 17 (1): 9–26. doi:10.1016/j.devcel.2009.06.016. PMC 2861485. PMID 19619488.
- ↑ 5.0 5.1 Heck JE, Meyers TJ, Lombardi C, Park AS, Cockburn M, Reynolds P, Ritz B (August 2013). "Case-control study of birth characteristics and the risk of hepatoblastoma". Cancer Epidemiol. 37 (4): 390–5. doi:10.1016/j.canep.2013.03.004. PMC 3679264. PMID 23558166.
- ↑ Finegold MJ, Lopez-Terrada DH, Bowen J, Washington MK, Qualman SJ (April 2007). "Protocol for the examination of specimens from pediatric patients with hepatoblastoma". Arch. Pathol. Lab. Med. 131 (4): 520–9. doi:10.1043/1543-2165(2007)131[520:PFTEOS]2.0.CO;2. PMID 17425379.
- ↑ Mussa A, Duffy KA, Carli D, Ferrero GB, Kalish JM (January 2019). "Defining an optimal time window to screen for hepatoblastoma in children with Beckwith-Wiedemann syndrome". Pediatr Blood Cancer. 66 (1): e27492. doi:10.1002/pbc.27492. PMID 30270492.
- ↑ Curia MC, Zuckermann M, De Lellis L, Catalano T, Lattanzio R, Aceto G, Veschi S, Cama A, Otte JB, Piantelli M, Mariani-Costantini R, Cetta F, Battista P (January 2008). "Sporadic childhood hepatoblastomas show activation of beta-catenin, mismatch repair defects and p53 mutations". Mod. Pathol. 21 (1): 7–14. doi:10.1038/modpathol.3800977. PMID 17962810.
- ↑ 9.0 9.1 Hiyama E (October 2014). "Pediatric hepatoblastoma: diagnosis and treatment". Transl Pediatr. 3 (4): 293–9. doi:10.3978/j.issn.2224-4336.2014.09.01. PMC 4728840. PMID 26835349.
- ↑ Zhang Q, Ming J, Zhang S, Guo D, Qiu X (2013). "A rare case of adult hepatoblastoma with neuroendocrine differentiation misdiagnosed as neuroendocrine tumor". Int J Clin Exp Pathol. 6 (2): 308–13. PMC 3544231. PMID 23330017.
- ↑ Pham TA, Gallo AM, Concepcion W, Esquivel CO, Bonham CA (December 2015). "Effect of Liver Transplant on Long-term Disease-Free Survival in Children With Hepatoblastoma and Hepatocellular Cancer". JAMA Surg. 150 (12): 1150–8. doi:10.1001/jamasurg.2015.1847. PMID 26308249.
- ↑ Häberle B, Bode U, von Schweinitz D (2003). "[Differentiated treatment protocols for high- and standard-risk hepatoblastoma--an interim report of the German Liver Tumor Study HB99]". Klin Padiatr (in German). 215 (3): 159–65. doi:10.1055/s-2003-39375. PMID 12778356.
- ↑ Uchida H, Sakamoto S, Sasaki K, Takeda M, Hirata Y, Fukuda A, Hishiki T, Irie R, Nakazawa A, Miyazaki O, Nosaka S, Kasahara M (December 2018). "Surgical treatment strategy for advanced hepatoblastoma: Resection versus transplantation". Pediatr Blood Cancer. 65 (12): e27383. doi:10.1002/pbc.27383. PMID 30084209.