Two Boys With Fragile X Syndrome and Hepatic Tumors Academic Article uri icon

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.

authors

  • Wirojanan, Juthamas
  • Kraff, Jeremy
  • Hawkins, Douglas S
  • Laird, Charles
  • Gane, Louise W
  • Angkustsiri, Kathleen
  • Tassone, Flora
  • Hagerman, Randi J

publication date

  • March 2008

has subject area