Congenital Hepatoblastoma and Beckwith-Wiedemann Syndrome
| Autor: | Morris Edelman, Richard D. Glick, Jonathan D. Fish, Andrew R. Hong, Andrea Zivot |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
Adult
Hepatoblastoma congenital hereditary and neonatal diseases and abnormalities Pathology medicine.medical_specialty Beckwith-Wiedemann Syndrome Beckwith–Wiedemann syndrome 03 medical and health sciences 0302 clinical medicine Humans Medicine Imprinting (psychology) Fetus medicine.diagnostic_test business.industry Liver Neoplasms Infant Newborn Magnetic resonance imaging Histology Hematology Methylation Prognosis medicine.disease Oncology 030220 oncology & carcinogenesis Pediatrics Perinatology and Child Health Female Hepatic tumor business 030215 immunology |
| Zdroj: | Journal of Pediatric Hematology/Oncology. 42:e798-e800 |
| ISSN: | 1077-4114 |
| Popis: | Following the discovery of a fetal hepatic tumor, labor was induced at 38 weeks, and a phenotypically normal female was delivered vaginally. A serum alpha-fetoprotein level at birth was 373,170 ng/mL. Postnatal magnetic resonance imaging confirmed a mass in the right lobe of the liver, and a percutaneous core biopsy revealed an epithelial type hepatoblastoma with predominantly embryonal histology. Methylation testing revealed hypomethylation at imprinting center 2, consistent with a diagnosis of Beckwith-Wiedemann syndrome. This case suggests that Beckwith-Wiedemann syndrome testing should be considered in all patients with hepatoblastoma, even in the absence of other phenotypic stigmata. |
| Databáze: | OpenAIRE |
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