Rearrangements at the 11p15 locus and overexpression of insulin-like growth factor-II gene in sporadic adrenocortical tumors

作者: X Bertagna , H Schneid , M Francillard-Leblond , J P Luton , F Girard

DOI: 10.1210/JCEM.78.6.7911125

关键词: EndocrinologyLoss of heterozygosityLocus (genetics)Cancer researchCarcinogenesisInternal medicineGene rearrangementInsulin-like growth factor 2AdenomaBeckwith–Wiedemann syndromeUniparental disomyBiology

摘要: Little is known about the pathophysiology of sporadic adrenocortical tumors in adults. Because loss heterozygosity at 11p15 locus has been described childhood tumors, particularly, associated with Beckwith-Wiedemann syndrome and because insulin-like growth factor-II (IGF-II) a crucial regulator fetal adrenal growth, we looked for structural analysis IGF-II gene expression 23 adult tumors: 6 carcinomas (5 Cushing's 1 nonsecreting) 17 benign adenomas (13 syndrome, pure androgen secreting, 3 nonsecreting). Twenty-one patients were informative locus, six (four two adenomas) them (28.5%) exhibited abnormalities tumor DNA (five, an uniparental disomy one, mosaicism). In single case that could be further studied, paternal isodisomy was observed. Very high mRNA contents detected seven (30%; 5 2 adenomas). They particularly found locus. Overall, strong correlation existed between demethylation These data show genetic alterations involving highly frequent malignant but only rare adenomas. results combination evidence overexpression from 11p15.5 suggest structure and/or play role as late event multistep process tumorigenesis.

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