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Letters to JMG
Germline mutation of the tumour suppressor PTEN in Proteus syndrome
  1. J M Smith1,
  2. E P E Kirk1,
  3. G Theodosopoulos2,
  4. G M Marshall3,
  5. J Walker4,
  6. M Rogers5,
  7. M Field1,
  8. J J Brereton6,
  9. D J Marsh2
  1. 1Department of Medical Genetics, Sydney Children’s Hospital, High Street, Randwick, NSW 2031, Australia
  2. 2Kolling Institute of Medical Research, Royal North Shore Hospital, and Department of Molecular Medicine, University of Sydney, St Leonards, NSW 2065, Australia
  3. 3Centre for Children’s Cancer and Blood Disorders, Sydney Children’s Hospital, High Street, Randwick, NSW 2031, Australia
  4. 4Department of Endocrinology, Sydney Children’s Hospital, High Street, Randwick, NSW 2031, Australia
  5. 5Department of Dermatology, The Children’s Hospital at Westmead, Westmead, NSW 2145, Australia
  6. 6Visiting Medical Officer, Wollongong Hospital, Crown Street, Wollongong, NSW 2500, Australia
  1. Correspondence to:
 Dr D J Marsh, Kolling Institute of Medical Research, Royal North Shore Hospital, St Leonards, NSW 2065, Australia;
 Debbie_Marsh{at}med.usyd.edu.au or Dr E P E Kirk, Department of Medical Genetics, Sydney Children’s Hospital, High Street, Randwick, NSW 2031, Australia;
 KirkED{at}sesahs.nsw.gov.au

https://doi.org/10.1136/jmg.39.12.937

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    Proteus syndrome (PS, OMIM 176920) is a hamartomatous disorder characterised by overgrowth of multiple tissues, connective tissue and epidermal naevi, and vascular malformations.1 These presentations are usually apparent at birth or soon after and continue to develop as the patient ages. It is named after the Greek god Proteus who, legend has it, could change his shape at will to avoid capture. It is probably the disease suffered by the Elephant Man.2 Tumours, mostly benign but some malignant, have also been reported in PS, generally presenting by the age of 20 years and including papillary adenocarcinoma of the testis, meningioma, and cystadenoma of the ovaries.3 Given the predominantly sporadic nature of this syndrome and the mosaic distribution of lesions, it has been suggested that PS may be caused by somatic mosaicism for a genetic change that is lethal in the non-mosaic state.4

    Clinical overlap, in the form of tissue overgrowth, macrocephaly, and the presence of lipomas, exists between PS and another hamartoma syndrome, Bannayan-Riley-Ruvalcaba syndrome (BRR, OMIM 153480),5 in which up to 60% of affected subjects are known to carry a germline mutation of the tumour suppressor gene PTEN.6 BRR also shows partial clinical overlap with Cowden syndrome (CS, OMIM 158350), in which affected subjects are at risk of developing hamartomas in multiple organs including the breast, thyroid, central nervous system, skin, and gastrointestinal tract, as well as malignant tumours of the breast, thyroid, and endometrium. PTEN is mutated in the germline in up to 80% of patients with CS.6 Two recent reports have shown germline, and probably germline mosaic, PTEN mutations in a subset of patients with PS or a PS-like disorder,7,8 although other studies of patients with PS have been unable to confirm these findings.9,10

    PTEN …

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