Germline mutation in the STK11 gene in a girl with an ovarian Sertoli cell tumour

Guy Massa, Nele Roggen, Marleen Renard, Johan J P Gille

Research output: Contribution to journalArticleAcademicpeer-review


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.

Original languageEnglish
Pages (from-to)1083-5
Number of pages3
JournalEuropean Journal of Pediatrics
Issue number10
Publication statusPublished - Oct 2007

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