Nesidioblastosis and mixed hamartoma of the liver in Beckwith-Wiedemann syndrome: case study including analysis of H19 methylation and insulin-like growth factor 2 genotyping and imprinting
| Autor: | Kyong Chang Kim, Akihiro Umezawa, Ryuji Fukuzawa, Jun-ichi Hata, Yukihiko Morikawa, Toshiro Nagai |
|---|---|
| Rok vydání: | 2000 |
| Předmět: |
medicine.medical_specialty
Beckwith-Wiedemann Syndrome RNA Untranslated Hamartoma Beckwith–Wiedemann syndrome Nesidioblastosis Gestational Age Allelic Imbalance medicine.disease_cause Polymerase Chain Reaction Pathology and Forensic Medicine Genomic Imprinting Fatal Outcome Insulin-Like Growth Factor II Internal medicine medicine Humans Hyperinsulinemic hypoglycemia DNA Primers biology Liver Neoplasms Infant Newborn Pancreatic Diseases General Medicine DNA Methylation medicine.disease Uniparental disomy Endocrinology Liver Insulin-like growth factor 2 Pediatrics Perinatology and Child Health DNA methylation biology.protein Female RNA Long Noncoding Genomic imprinting |
| Zdroj: | Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society. 4(4) |
| ISSN: | 1093-5266 |
| Popis: | An infant with persistent hyperinsulinemic hypoglycemia, diffuse nesidioblastosis, and mixed hamartoma of the liver (MHL), in addition to demonstrating clinical, pathologic, and molecular manifestations of Beckwith-Wiedemann syndrome (BWS), is the subject of this report. H19 methylation assay and allelic expression analysis for insulin-like growth factor 2 (IGF2) indicated that the patient was mosaic for paternal isodisomic cells and normal cells in lung tissue, nontumoral liver tissue, tissue from the MHL, and pancreatic tissue. We propose that abundant IGF2 expression during development due to paternal isodisomy resulted in hepatomegaly and islet cell hyperplasia, which led to nesidioblastosis. MHL, by contrast, may have resulted from a decrease in disomic cells, compared with nontumoral liver tissue, which showed an increase in disomic cells. Thus, somatic mosaicism may result in unbalanced tissue growth, which may contribute to the formation of MHL in BWS. |
| Databáze: | OpenAIRE |
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