Two boys with fragile x syndrome and hepatic tumors |
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Authors: | Wirojanan Juthamas Kraff Jeremy Hawkins Douglas S Laird Charles Gane Louise W Angkustsiri Kathleen Tassone Flora Hagerman Randi J |
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Institution: | Medical Investigation of Neurodevelopmental Disorders , University of California Davis Health System, Sacramento, CA 95817, USA. |
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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. |
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