Two boys with fragile X syndrome and hepatic tumors

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

Research output: Contribution to journalArticlepeer-review

14 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)239-241
Number of pages3
JournalJournal of Pediatric Hematology/Oncology
Issue number3
StatePublished - Mar 2008


  • FMRP
  • Fragile X syndrome
  • Hepatic tumor
  • Hepatoblastoma

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Oncology
  • Hematology


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