title: Two boys with fragile x syndrome and hepatic tumors.
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: Medical Investigation of Neurodevelopmental Disorders , University of California Davis Health System, Sacramento, CA 95817, USA.
authors: Juthamas
authors: J
authors: Wirojanan
authors: Jeremy
authors: J
authors: Kraff
authors: Douglas S
authors: DS
authors: Hawkins
authors: Charles
authors: C
authors: Laird
authors: Louise W
authors: LW
authors: Gane
authors: Kathleen
authors: K
authors: Angkustsiri
authors: Flora
authors: F
authors: Tassone
authors: Randi J
authors: RJ
authors: Hagerman
mesh_terms: D000971:Antineoplastic Combined Chemotherapy Protocols / Q000009:adverse effects / Q000627:therapeutic use; D002648:Child; D003937:Diagnosis, Differential; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics; D005600:Fragile X Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D020868:Gene Silencing; D018197:Hepatoblastoma / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D006801:Humans; D008113:Liver Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D016031:Liver Transplantation; D008297:Male; D009375:Neoplasms, Glandular and Epithelial / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D011237:Predictive Value of Tests; D012333:RNA, Messenger / Q000235:genetics; D012074:Remission Induction; D016896:Treatment Outcome
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; D012333:RNA, Messenger; C497683:FMR1 protein, human