The authors declare that they have no conflict of interest.
PTEN mosaicism with features of Cowden syndrome
Article first published online: 20 JAN 2013
© 2012 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
Volume 84, Issue 6, pages 593–595, December 2013
How to Cite
PTEN mosaicism with features of Cowden syndrome., , , , .
- Issue published online: 28 OCT 2013
- Article first published online: 20 JAN 2013
- Accepted manuscript online: 14 DEC 2012 01:20PM EST
- Manuscript Revised: 12 DEC 2012
- Manuscript Accepted: 12 DEC 2012
- Manuscript Received: 16 NOV 2012
- Cowden syndrome;
- hamartomatous polyps;
We present the first known case of somatic PTEN mosaicism causing features of Cowden syndrome (CS) and inheritance in the subsequent generation. A 20-year-old woman presented for genetics evaluation with multiple ganglioneuromas of the colon. On examination, she was found to have a thyroid goiter, macrocephaly, and tongue papules, all suggestive of CS. However, her reported family history was not suspicious for CS. A deleterious PTEN mutation was identified in blood lymphocytes, 966A>G, 967delA. Genetic testing was recommended for her parents. Her 48-year-old father was referred for evaluation and was found to have macrocephaly and a history of Hashimoto's thyroiditis, but no other features of CS. Site-specific genetic testing carried out on blood lymphocytes showed mosaicism for the same PTEN mutation identified in his daughter. Identifying PTEN mosaicism in the proband's father had significant implications for the risk assessment/genetic testing plan for the rest of his family. His result also provides impetus for somatic mosaicism in a parent to be considered when a de novo PTEN mutation is suspected.