Multiple ß-catenin mutations in hepatocellular lesions arising in Abernethy malformation.
Hum Pathol
; 53: 153-8, 2016 07.
Article
en En
| MEDLINE
| ID: mdl-27038679
ABSTRACT
An 18-year-old man underwent liver transplantation due to an Abernethy malformation associated with multiple hepatocellular nodules including one which was rapidly enlarging and was suspicious for malignant transformation. Analysis of the explanted liver showed a spectrum of multiple hepatocellular nodules ranging in appearance from focal nodular hyperplasia, hepatocellular adenoma and to a well-differentiated hepatocellular neoplasm borderline for hepatocellular carcinoma. Mutational analysis revealed wild-type ß-catenin expression in the background liver and some nodules, whilst different variants were present in other lesions irrespective of their morphological appearance. No telomerase reverse transcriptase (TERT) promoter mutation was identified. Abernethy malformations can lead to independent genetic events which can result in ß-catenin mutations associated with malignant transformation of hepatocellular nodules. When following up such patients, one must therefore have a high index of suspicion, particularly if radiological surveillance reveals a change in the nature of hepatic lesions.
Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Biomarcadores de Tumor
/
Adenoma de Células Hepáticas
/
Carcinoma Hepatocelular
/
Hiperplasia Nodular Focal
/
Beta Catenina
/
Malformaciones Vasculares
/
Neoplasias Hepáticas
/
Mutación
/
Neoplasias Primarias Múltiples
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Idioma:
En
Revista:
Hum Pathol
Asunto de la revista:
PATOLOGIA
Año:
2016
Tipo del documento:
Article