Hepatoblastoma overview: Difference between revisions
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==Epidemiology and Demographics== | ==Epidemiology and Demographics== | ||
Hepatoblastoma is a common tumor that tends to affect children aged less than five years. Males are more commonly affected with hepatoblastoma than females. The annual [[incidence]] of hepatoblastoma in the United States appears to have doubled from 8 (1975-1983) to 16 (2002-2009) per 100,000 children aged 19 years and younger. | |||
==Risk factors== | ==Risk factors== | ||
Common risk factors in the development of hepatoblastoma include [[Low birth weight]] infants, | Common risk factors in the development of hepatoblastoma include [[Low birth weight]] infants, [[Preeclampsia]], [[Fetal distress]], [[Premature labor]], [[Chromosomal anomalies]] such as [[Down syndrome]], [[Edwards syndrome]]. parental [[tobacco]] [[smoking]] before and during [[pregnancy]], [[Oxygen therapy]], certain medication ([[furosemide]]), [[Total parenteral nutrition]] ([[TPN]]). | ||
[[Preeclampsia]] | |||
[[Fetal distress]] | |||
[[Premature labor]] | |||
[[Chromosomal anomalies]] such as [[Down syndrome]], [[Edwards syndrome]]. | |||
[[Oxygen therapy]] | |||
[[Total parenteral nutrition]] ([[TPN]]) | |||
==Screening== | ==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. However, [[ultrasound]] is the recommended for suspected [[hepatic]] lesions in children. | |||
==Differentiating Hepatoblastoma from other diseases== | ==Differentiating Hepatoblastoma from other diseases== | ||
Hepatoblastoma must be differentiated from other diseases such as [[Hamartoma|hepatic mesenchymal hamartoma]], [[hepatocellular carcinoma]], [[Hepatocellular carcinoma|hepatic metastases]], [[infantile hemangioendothelioma]], and [[Rhabdomyosarcoma|rhabdomyosarcoma of biliary tract]].<ref name="differential">Differential diagnosis of hepatoblastoma. Dr Frank Gaillard et al. Radiopaedia 2015. http://radiopaedia.org/articles/hepatoblastoma. Accessed on November 3, 2015</ref> | Hepatoblastoma must be differentiated from other diseases such as [[Hamartoma|hepatic mesenchymal hamartoma]], [[hepatocellular carcinoma]], [[Hepatocellular carcinoma|hepatic metastases]], [[infantile hemangioendothelioma]], and [[Rhabdomyosarcoma|rhabdomyosarcoma of biliary tract]].<ref name="differential">Differential diagnosis of hepatoblastoma. Dr Frank Gaillard et al. Radiopaedia 2015. http://radiopaedia.org/articles/hepatoblastoma. Accessed on November 3, 2015</ref> | ||
==Natural History, Complications and Prognosis== | ==Natural History, Complications and Prognosis== | ||
If left untreated, patients with hepatoblastoma may progress to develop [[failure to thrive]], [[weight loss]], [[Abdominal mass|rapidly enlarging abdominal mass]], spontaneous rupture, [[hemorrhage]]. Common complications of hepatoblastoma include paraneoplastic features, [[erythrocytosis]], [[thrombocytosis]], [[hypocalcemia]], [[Precocious puberty|isosexual precocious puberty]], and [[hypoglycemia]]. The 5-year survival rate of children with hepatoblastoma is approximately 70%. | |||
==Diagnosis== | ==Diagnosis== | ||
Revision as of 20:30, 13 March 2019
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Hepatoblastoma overview On the Web |
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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 the most common primary liver tumor occurs in infant and children, usually less than 3 years old, more frequently in male, and accounting for over 1% of pediatric cancers. The etiology is unknown and not well understood, but it has been associated with Beckwith-Weidemann syndrome, familial adenomatous polyposis, and other factors such as low birth weight, preeclampsia, hemihypertrophy. The primary treatment is surgical resection, however, chemotherapy plays an important role by increasing the number of tumors that are respectable, chemotherapeutic agents helps in shrinkage of the tumor and make it easier to be resected by surgery. Prognosis of the tumor depends on various criteria such as resectability of the tumor, distant metastasis, tumor size, PRETEXT staging, and recurrence of the tumor. The mainstay of treatment is surgery, but the adjuvant chemotherapeutic agents and liver transplantation also are helpful.
Historical Perspective
In 1898, the first case of hepatoblastoma was published in English literature, the tumor was diagnosed in a 6-week old boy in Prague, by a physician named Misick, who found a large tumor on the autopsy of his liver. Decades later on 1962 Willis used the term, hepatoblastoma for this type of liver tumor because of it's embryonal origin
Classification
Hepatoblastoma can be divided into major and minor categories based on histology. Major categories constitutes epithelial, small cell undifferentiated and rhabdoid while minor constitutes cholangioblastic (ductal), keratinising squamous epithelium, intestinal glandular epithelium, teratoid (neuroid-melanocytic), rhabdomyoblastic, chondroid, and osteoid.
Pathophysiology
Development of hepatoblastoma is the result of multiple genetic mutations. Genes involved in the pathogenesis of hepatoblastoma include CTNNB1, CAPRIN2, SPOP, OR5I1, and CDC20B. On gross pathology, hepatoblastoma is characterized by a solitary, large, well circumscribed mass with heterogeneous cut surface. On microscopic histopathological analysis, hepatoblastoma is characterized by small round cell tumor, fetal hepatocytes ~ 1:3 nuclear-cytoplasmic ratio, eosinophilic cytoplasm (mesenchymal component), and immature fibrous tissue osteoid or cartilage. Hepatoblastoma is demonstrated by positivity to alpha-fetoprotein, hepatocyte specific antigen (especially in fetal component), and beta-catenin (cytoplasmic and nuclear).
Causes
There are no specific causes of hepatoblastoma and most tumors are sporadic but there are some risk factors and conditions that have a strong association with this tumor such as beckwith-Weidemann syndrome, familial adenomatous polyposis (FAP), down syndrome, edward syndrome (trisomy 18).
Epidemiology and Demographics
Hepatoblastoma is a common tumor that tends to affect children aged less than five years. Males are more commonly affected with hepatoblastoma than females. The annual incidence of hepatoblastoma in the United States appears to have doubled from 8 (1975-1983) to 16 (2002-2009) per 100,000 children aged 19 years and younger.
Risk factors
Common risk factors in the development of hepatoblastoma include Low birth weight infants, Preeclampsia, Fetal distress, Premature labor, Chromosomal anomalies such as Down syndrome, Edwards syndrome. parental tobacco smoking before and during pregnancy, Oxygen therapy, certain medication (furosemide), Total parenteral nutrition (TPN).
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. However, ultrasound is the recommended for suspected hepatic lesions in children.
Differentiating Hepatoblastoma from other diseases
Hepatoblastoma must be differentiated from other diseases such as hepatic mesenchymal hamartoma, hepatocellular carcinoma, hepatic metastases, infantile hemangioendothelioma, and rhabdomyosarcoma of biliary tract.[1]
Natural History, Complications and Prognosis
If left untreated, patients with hepatoblastoma may progress to develop failure to thrive, weight loss, rapidly enlarging abdominal mass, spontaneous rupture, hemorrhage. Common complications of hepatoblastoma include paraneoplastic features, erythrocytosis, thrombocytosis, hypocalcemia, isosexual precocious puberty, and hypoglycemia. The 5-year survival rate of children with hepatoblastoma is approximately 70%.
Diagnosis
Diagnostic study of choice
- The diagnosis of hepatoblastoma is made when abdominal mass is detected on ultrasound or spiral CT scan, but a definitive diagnosis requires the histological evaluation of biopsy specimen after surgery.[2]
History and Symptoms
- The majority of patients with hepatoblastoma have an abdominal mass or abdominal distension. [2]
- Other symptoms of hepatoblastoma include:
- Abdominal discomfort
- Generalized fatigue
- Loss of appetite (Anorexia)
- Nausea and vomiting
- Ruptured tumor can cause symptoms of peritoneal irritation due to intraperitoneal bleeding such as severe abdominal pain, nausea, vomiting, and severe anemia.[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.[4][2]
- Most tumors are solitary; but can be multifocal as well.
Laboratory Findings
- Laboratory findings that help with the diagnosis of hepatoblastoma includes:[5]
- Anemia on complete blood count
- Thrombocytosis (more frequent because of the effect of thrombopoietin)[6]
- Thrombocytopenia (less common)
- High levels of Alpha-fetoprotein (AFP)
- Mild liver function disturbances
Xray
CT
- CT scan is very helpful to diagnose the disease, children with hepatoblastoma undergo either a CT or MRI scan at diagnosis. [8]
- Surgeons prefer an angiographic or biphasic CT scan because of better depiction of the hepatic arterial, portal venous and hepatic vein and other liver structures.
- Concerns about radiation exposures in pediatrics has changed this modality in favor of MRI, although MRI is much lengthy exam than CT has the advantage of multiplanar soft-tissue characterization, and when diffusion-weighted imaging techniques are used, MRI is exquisitely sensitive for detecting tiny liver lesions.
- Spiral CT scan findings of hypervascular lesions in the liver with delayed contrast excretion are highly suggestive of a malignant liver tumor.
MRI
- MRI has the advantage of multiplanar soft-tissue characterization, lack of harmful ionizing radiation and when diffusion-weighted imaging techniques are used, MRI is exquisitely sensitive for detecting tiny liver lesions.[9]
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.
Biopsy
Biopsy is the gold standard for the diagnosis of hepatoblastoma.
Other Imaging Findings
- Other imaging studies such as PET scan or even bone scan when there is evidence of metastasis to bone may be helpful in the diagnosis of hepatoblastoma. PET scan can be helpful in localizing recurrent hepatoblastoma.[10][11]
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.[12]
- Liver transplantation can be considered for tumors that cannot be removed by surgery.[13]
- 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.[14]
Surgery
- Surgery is the mainstay of treatment for hepatoblastoma.[15]
- The feasibility of surgery depends on the resectability of tumor at diagnosis.
Primary Prevention
There are no primary preventive measures available for hepatoblastoma.
Secondary Prevention
- There are no established measures for the secondary prevention of hepatoblastoma.
References
- ↑ Differential diagnosis of hepatoblastoma. Dr Frank Gaillard et al. Radiopaedia 2015. http://radiopaedia.org/articles/hepatoblastoma. Accessed on November 3, 2015
- ↑ 2.0 2.1 2.2 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.
- ↑ Ke HY, Chen JH, Jen YM, Yu JC, Hsieh CB, Chen CJ, Liu YC, Chen TW, Chan DC (October 2005). "Ruptured hepatoblastoma with massive internal bleeding in an adult". World J. Gastroenterol. 11 (39): 6235–7. PMC 4436650. PMID 16273660.
- ↑ 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.
- ↑ Exelby PR, Filler RM, Grosfeld JL (June 1975). "Liver tumors in children in the particular reference to hepatoblastoma and hepatocellular carcinoma: American Academy of Pediatrics Surgical Section Survey--1974". J. Pediatr. Surg. 10 (3): 329–37. PMID 49416.
- ↑ Nickerson HJ, Silberman TL, McDonald TP (January 1980). "Hepatoblastoma, thrombocytosis, and increased thrombopoietin". Cancer. 45 (2): 315–7. PMID 6153151.
- ↑ Perilongo G, Brown J, Shafford E, Brock P, De Camargo B, Keeling JW, Vos A, Philips A, Pritchard J, Plaschkes J (October 2000). "Hepatoblastoma presenting with lung metastases: treatment results of the first cooperative, prospective study of the International Society of Paediatric Oncology on childhood liver tumors". Cancer. 89 (8): 1845–53. PMID 11042582.
- ↑ Aronson DC, Meyers RL (October 2016). "Malignant tumors of the liver in children". Semin. Pediatr. Surg. 25 (5): 265–275. doi:10.1053/j.sempedsurg.2016.09.002. PMID 27955729.
- ↑ Shelmerdine SC, Roebuck DJ, Towbin AJ, McHugh K (August 2016). "MRI of paediatric liver tumours: How we review and report". Cancer Imaging. 16 (1): 21. doi:10.1186/s40644-016-0083-3. PMC 4986178. PMID 27526937.
- ↑ Figarola MS, McQuiston SA, Wilson F, Powell R (December 2005). "Recurrent hepatoblastoma with localization by PET-CT". Pediatr Radiol. 35 (12): 1254–8. doi:10.1007/s00247-005-1568-6. PMID 16170514.
- ↑ Archer D, Babyn P, Gilday D, Greenberg MA (December 1993). "Potentially misleading bone scan findings in patients with hepatoblastoma". Clin Nucl Med. 18 (12): 1026–31. PMID 8293620.
- ↑ 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.
- ↑ Reyes JD, Carr B, Dvorchik I, Kocoshis S, Jaffe R, Gerber D, Mazariegos GV, Bueno J, Selby R (June 2000). "Liver transplantation and chemotherapy for hepatoblastoma and hepatocellular cancer in childhood and adolescence". J. Pediatr. 136 (6): 795–804. PMID 10839879.
- ↑ 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.