Abstract
Hepatic tumors are rare childhood neoplasms with uncertain etiology. We report the cooccurrence of hepatic tumors in 2 boys with fragile X syndrome, one with hepatoblastoma and another with desmoplastic nested spindle cell tumor of liver. The pathogenesis of fragile X syndrome involves silencing of the fragile X mental retardation 1 gene and consequent loss of FMR1 protein. We speculate regarding molecular pathways that might explain the cooccurrence of the 2 conditions. Further examination of a possible functional link between hepatic neoplasia and loss of FMRP is warranted.
Publication types
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Case Reports
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Antineoplastic Combined Chemotherapy Protocols / adverse effects
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Antineoplastic Combined Chemotherapy Protocols / therapeutic use
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Child
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Diagnosis, Differential
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Fragile X Mental Retardation Protein / genetics
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Fragile X Syndrome / diagnosis
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Fragile X Syndrome / genetics*
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Fragile X Syndrome / therapy
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Gene Silencing
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Hepatoblastoma / diagnosis
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Hepatoblastoma / genetics*
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Hepatoblastoma / therapy
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Humans
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Liver Neoplasms / diagnosis
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Liver Neoplasms / genetics*
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Liver Neoplasms / therapy
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Liver Transplantation
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Male
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Neoplasms, Glandular and Epithelial / diagnosis
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Neoplasms, Glandular and Epithelial / genetics*
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Neoplasms, Glandular and Epithelial / therapy
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Predictive Value of Tests
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RNA, Messenger / genetics
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Remission Induction
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Treatment Outcome
Substances
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FMR1 protein, human
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RNA, Messenger
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Fragile X Mental Retardation Protein