How to Cite this Article: Hopman SMJ, Van Rijn RR, Eng C, Bras J, Alders M, van der Horst CM, Hennekam RCM, Merks JHM. 2012. PTEN hamartoma tumor syndrome and Gorham–Stout phenomenon. Am J Med Genet Part A. 158A:1719–1723.
PTEN hamartoma tumor syndrome and Gorham–Stout phenomenon†
Article first published online: 24 MAY 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 7, pages 1719–1723, July 2012
How to Cite
Hopman, S. M.J., Van Rijn, R. R., Eng, C., Bras, J., Alders, M., van der Horst, C. M., Hennekam, R. C.M. and Merks, J. H.M. (2012), PTEN hamartoma tumor syndrome and Gorham–Stout phenomenon. Am. J. Med. Genet., 158A: 1719–1723. doi: 10.1002/ajmg.a.35406
- Issue published online: 18 JUN 2012
- Article first published online: 24 MAY 2012
- Manuscript Accepted: 12 MAR 2012
- Manuscript Received: 14 JAN 2012
- PTEN Hamartoma tumor syndrome;
- multiple hamartoma syndrome;
- Gorham–Stout phenomenon;
- Gorham disease;
- essential osteolysis
hamartoma tumor syndrome (PHTS) is a group of syndromes caused by mutations in PTEN. Gorham–Stout phenomenon (GSP) is a rare condition characterized by proliferation of vascular structures in bones, resulting in progressive osteolysis. Here we present a 1-year-old boy with PHTS and GSP. The lesion that later proved to be GSP was evident from the age of 4 months, and became symptomatic at the age of 1 year. Eventually, he developed a fatal chylothorax. Mutation analysis revealed a germline heterozygous mutation c.517 C>T (p.Arg173Cys) in exon 6 of PTEN. Analysis of the lymphatic malformation (LM) tissue revealed no loss of heterozygosity (LOH) nor a second, somatic PTEN mutation of the remaining wild type allele. The germline p.Arg173Cys mutation was also present in the mother and the propositus' younger sister and brother. Further molecular work-up showed a heterozygous variant c.2180C>T (p.Ala727Val) FLT4 in the LM tissue, which was also present in the germline of mother and two siblings. GSP has not been reported before in a patient with a PTEN mutation. Up to this date, this mutation is the only genetic defect possibly involved in the etiology of GSP which is plausible given the known function of PTEN in angiogenic signaling. © 2012 Wiley Periodicals, Inc.