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Somatic mutation of the Peutz-Jeghers syndrome gene, LKB1/STK11, in malignant melanoma

Oncogene volume 18, pages 1777–1780 (1999)Cite this article

Abstract

Mutations in LKB1/STK11, a gene mapping to chromosome 19p13.3 and encoding a widely expressed serine/threonine kinase, were recently identified as the cause of Peutz-Jeghers syndrome. Despite the hamartomatous polyps and increased cancer risk associated with this syndrome, somatic alterations in LKB1/STK11 have not been identified in human tumours. Prompted by another feature of the syndrome, lentigines of the lips and oral mucosa, we evaluated the status of LKB1/STK11 expression, deletion, and mutation in cell lines and tumour samples from 35 patients with sporadic malignant melanoma. Two somatic mutations were identified, a nonsense mutation (Glu170Stop) causing exon skipping and intron retention, and a missense mutation (Asp194Tyr) affecting an invariant residue in the catalytic subunit of LKB1/STK11. Our data suggest that LKB1/STK11 may contribute to tumorigenesis in a small fraction of malignant melanomas.

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Acknowledgements

This work was supported by grants from the Danish Cancer Society, the Danish Medical Research Council, the Novo Nordisk Foundation, the Astrid Thaysen Foundation, and the Kaarsen Foundation.

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  1. Department of Tumour Cell Biology, Institute of Cancer Biology, Danish Cancer Society, Strandboulevarden 49, Copenhagen, DK-2100, Denmark

    Per Guldberg, Per thor Straten, Vibeke Ahrenkiel, Tina Seremet, Alexei F Kirkin & Jesper Zeuthen

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  1. Per Guldberg
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  2. Per thor Straten
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Guldberg, P., Straten, P., Ahrenkiel, V. et al. Somatic mutation of the Peutz-Jeghers syndrome gene, LKB1/STK11, in malignant melanoma. Oncogene 18, 1777–1780 (1999). https://doi.org/10.1038/sj.onc.1202486

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