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 journalArticle

12 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)239-241
Number of pages3
JournalJournal of Pediatric Hematology/Oncology
Volume30
Issue number3
DOIs
StatePublished - Mar 2008

Fingerprint

Fragile X Syndrome
Liver
Neoplasms
Hepatoblastoma
Intellectual Disability
Genes
Proteins

Keywords

  • FMRP
  • Fragile X syndrome
  • Hepatic tumor
  • Hepatoblastoma

ASJC Scopus subject areas

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

Cite this

Two boys with fragile X syndrome and hepatic tumors. / Wirojanan, Juthamas; Kraff, Jeremy; Hawkins, Douglas S.; Laird, Charles; Gane, Louise W.; Angkustsiri, Kathleen; Tassone, Flora; Hagerman, Randi J.

In: Journal of Pediatric Hematology/Oncology, Vol. 30, No. 3, 03.2008, p. 239-241.

Research output: Contribution to journalArticle

Wirojanan, Juthamas ; Kraff, Jeremy ; Hawkins, Douglas S. ; Laird, Charles ; Gane, Louise W. ; Angkustsiri, Kathleen ; Tassone, Flora ; Hagerman, Randi J. / Two boys with fragile X syndrome and hepatic tumors. In: Journal of Pediatric Hematology/Oncology. 2008 ; Vol. 30, No. 3. pp. 239-241.
@article{e171be5a765f4b698e3d4bc1c342959a,
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.",
keywords = "FMRP, Fragile X syndrome, Hepatic tumor, Hepatoblastoma",
author = "Juthamas Wirojanan and Jeremy Kraff and Hawkins, {Douglas S.} and Charles Laird and Gane, {Louise W.} and Kathleen Angkustsiri and Flora Tassone and Hagerman, {Randi J}",
year = "2008",
month = "3",
doi = "10.1097/MPH.0b013e31815f88c9",
language = "English (US)",
volume = "30",
pages = "239--241",
journal = "Journal of Pediatric Hematology/Oncology",
issn = "1077-4114",
publisher = "Lippincott Williams and Wilkins",
number = "3",

}

TY - JOUR

T1 - Two boys with fragile X syndrome and hepatic tumors

AU - Wirojanan, Juthamas

AU - Kraff, Jeremy

AU - Hawkins, Douglas S.

AU - Laird, Charles

AU - Gane, Louise W.

AU - Angkustsiri, Kathleen

AU - Tassone, Flora

AU - Hagerman, Randi J

PY - 2008/3

Y1 - 2008/3

N2 - 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.

AB - 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.

KW - FMRP

KW - Fragile X syndrome

KW - Hepatic tumor

KW - Hepatoblastoma

UR - http://www.scopus.com/inward/record.url?scp=41849139012&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=41849139012&partnerID=8YFLogxK

U2 - 10.1097/MPH.0b013e31815f88c9

DO - 10.1097/MPH.0b013e31815f88c9

M3 - Article

C2 - 18376289

AN - SCOPUS:41849139012

VL - 30

SP - 239

EP - 241

JO - Journal of Pediatric Hematology/Oncology

JF - Journal of Pediatric Hematology/Oncology

SN - 1077-4114

IS - 3

ER -