Hepatoblastoma, pigmented ocular fundus lesions and jaw lesions in Gardner syndrome
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A J Krush1, E I Traboulsi, J A Offerhaus
1Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.
Insights
Hepatoblastoma in children may indicate Gardner syndrome (GS), a hereditary condition. Early detection of GS in families with hepatoblastoma is crucial for monitoring and managing associated conditions.
Area of Science:
- Pediatric Oncology
- Clinical Genetics
- Gastroenterology
Background:
- Hepatoblastoma is a rare childhood liver cancer.
- Hepatoblastoma has been rarely associated with hereditary adenomatous polyposis of the colon.
- Gardner syndrome (GS) is an autosomal dominant disorder characterized by colonic polyps and extracolonic manifestations.
Purpose of the Study:
- To report the association of hepatoblastoma with Gardner syndrome.
- To highlight clinical markers for identifying GS in families with hepatoblastoma.
- To recommend screening protocols for hepatoblastoma patients and their families.
Main Methods:
- Case series reporting four children with hepatoblastoma from unrelated families with GS.
- Clinical examination and review of medical histories.
- Identification of clinical markers such as odontomas and pigmented ocular fundus lesions.
Main Results:
- Four children with hepatoblastoma were diagnosed with Gardner syndrome.
- Clinical markers of GS, including jaw osteomas and ocular fundus lesions, were identified in affected families.
- One patient survived hepatoblastoma and was later diagnosed with GS.
Conclusions:
- Hepatoblastoma in infants and children warrants a search for colonic polyps and Gardner syndrome.
- Survivors of hepatoblastoma should be monitored for the development of colonic polyps.
- Presence of jaw and/or ocular fundus lesions in relatives indicates potential GS gene presence.
Abstract:
Hepatoblastoma is a rare neoplasm of infants and children only recently documented in association with hereditary adenomatous polyposis of the colon [Kingston et al., 1983]. We report four children with hepatoblastoma from four unrelated families with Gardner syndrome (GS). One child, now 19 years old, survived after a resection of a hepatoblastoma in infancy and recently was found to have GS. He has an associated odontoma and pigmented ocular fundus lesions, both of which have been shown to be clinical markers of GS. Many individuals in these four GS families, both affected and at risk, have osteomatous jaw lesions and pigmented ocular fundus lesions. A search for colonic polyps should be made in families of infants and children with hepatoblastoma. If the child survives, he or she should be monitored for the later appearance of colonic polyps. The finding of jaw lesions and/or pigmented ocular fundus lesions in relatives at risk are indications of the possible presence of the GS gene.