Hepatic Malignancy in an Infant with Wolf-Hirschhorn Syndrome

Wolf-Hirschhorn syndrome (WHS) is a contiguous gene syndrome involving deletions of the chromosome 4p16 region associated with growth failure, characteristic craniofacial abnormalities, cardiac defects, and seizures. This report describes a six-month-old girl with WHS with growth failure and typical...

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Bibliographic Details
Published in:Fetal and pediatric pathology 2017-06, Vol.36 (3), p.256-262
Main Authors: Rutter, Sara, Morotti, Raffaella A, Peterec, Steven, Gallagher, Patrick G
Format: Article
Language:English
Subjects:
Carcinoma, Hepatocellular - complications
Carcinoma, Hepatocellular - genetics
Carcinoma, Hepatocellular - pathology
Chromosome Deletion
Chromosomes, Human, Pair 4 - genetics
Diagnosis, Differential
Female
Heart Defects, Congenital - complications
Heart Defects, Congenital - genetics
Hepatoblastoma - complications
Hepatoblastoma - genetics
Hepatoblastoma - pathology
Humans
Infant
Liver Neoplasms - complications
Liver Neoplasms - genetics
Liver Neoplasms - pathology
Wolf-Hirschhorn Syndrome - complications
Wolf-Hirschhorn Syndrome - genetics
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Summary:Wolf-Hirschhorn syndrome (WHS) is a contiguous gene syndrome involving deletions of the chromosome 4p16 region associated with growth failure, characteristic craniofacial abnormalities, cardiac defects, and seizures. This report describes a six-month-old girl with WHS with growth failure and typical craniofacial features who died of complex congenital heart disease. Genetic studies revealed a 9.8 Mb chromosome 4p-terminal deletion. At autopsy, the liver was grossly unremarkable. Routine sampling and histologic examination revealed two hepatocellular nodular lesions with expanded cell plates and mild cytologic atypia. Immunohistochemical staining revealed these nodules were positive for glutamine synthetase and glypican 3, with increased Ki-67 signaling and diffuse CD34 expression in sinusoidal endothelium. These findings are consistent with hepatoblastoma or hepatocellular carcinoma. A possible association between WHS and hepatic malignancy may be an important consideration in the care and management of WHS patients.
ISSN:1551-3815
1551-3823
DOI:10.1080/15513815.2017.1293201