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 language | English (US) |
|---|---|
| Pages (from-to) | 239-241 |
| Number of pages | 3 |
| Journal | Journal of Pediatric Hematology/Oncology |
| Volume | 30 |
| Issue number | 3 |
| DOIs | |
| State | Published - Mar 2008 |
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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 journal › Article
}
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 -