Abstract
Introduction
An ovarian Sertoli cell tumour was detected in a 4-year-old girl with gonadotrophin-independent precocious puberty. Such gonadal tumours can be associated with Peutz-Jeghers syndrome, caused by mutations in the STK11 gene. We have therefore sequenced the STK11 gene.
Results
Mutation analysis revealed a nonsense mutation in exon 1 (c.130A>T;p.Lys44X) of the SKT11 gene, which resulted in a truncated, inactive protein. The mutation was heterozygous in patient’s lymphocytes and almost homozygous in the tumour, indicating loss of heterozygosity.
Conclusion
This is the first report of a STK11 germline mutation in a girl with an ovarian Sertoli cell tumour. It remains to be shown whether this particular mutation predisposes the patient to the development of ovarian tumours.
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Abbreviations
- GIPP:
-
gonadotrophin-independent precocious puberty
- LOH:
-
loss of heterozygosity
- MRI:
-
magnetic resonance imaging
- PJS:
-
Peutz-Jeghers syndrome
- SCT:
-
Sertoli cell tumour
- STK:
-
serine/threonine protein kinase
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Acknowledgements
This work was supported by the Netherlands Digestive Disease Foundation (WS01-03).
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Massa, G., Roggen, N., Renard, M. et al. Germline mutation in the STK11 gene in a girl with an ovarian Sertoli cell tumour. Eur J Pediatr 166, 1083–1085 (2007). https://doi.org/10.1007/s00431-006-0352-4
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DOI: https://doi.org/10.1007/s00431-006-0352-4