ISSN:
1435-232X
Keywords:
Beckwith-Wiedemann syndrome
;
rhabdomyosarcoma
;
renal cell carcinoma
;
insulin-like growth factor II gene
;
loss of heterozygosity
;
loss of imprinting
Source:
Springer Online Journal Archives 1860-2000
Topics:
Biology
,
Medicine
Notes:
Summary We described a patient with Beckwith-Wiedemann syndrome associated with rhabdomyosarcoma (RMS), and renal cell carcinoma (RCC). Karyotypes of peripheral lymphocytes and RMS cells were normal. DNA analyses showed maternal loss of heterozygosity (LOH) at 11p15 region in RMS but not in RCC. The insulin-like growth factor II gene (IGF2) was found to be expressed at a moderate level in RMS but not in RCC byin situ hybridization. Each of parental allele-derivedIGF2 transcript was detected in RCC, while maternal allele-derived transcript was weak in RMS because of maternal LOH. These results suggest that (1) loss of imprinting (LOI) ofIGF2 might be responsible for BWS, (2) on the other hand, LOI itself might not induce tumor occurrence in tissues where the control of tissue-specific expression ofIGF2 is maintained, (3) increased expression ofIGF2 due to maternal loss of a putative controller gene forIGF2 at 11p15 might predispose to sustaining tumorigenic mutations and tumor progression, (4) loss of a putative onco-suppressor gene at 11p15 might induce RMS occurrence. The cause of RCC was thought to be different from that of RMS.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF01876842
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