Learning objectives
1.
Discuss the background of Multiple Hamartoma Syndrome (also known as Cowden Disease and Cowden Syndrome) including the aetiology and associated abnormalities.
2.
Review cases demonstrating some of theradiological appearances of the syndrome.
Background
General
Multiple Hamartoma Syndrome (also known as Cowden Disease andCowden Syndrome) is part of a group of conditions known as the PTEN Hamartoma Tumour Syndromes (PHTS),
which includes Cowden Syndrome,
Bannayan-Riley-Ruvalcaba Syndrome,
Proteus Syndrome and Proteus-like syndrome.
These conditions are linked to mutations of the PTEN tumour suppressor gene and a mutation is identified in 85% of patients with Cowden Syndrome [1].
Cowden Syndrome is the only one of the group with a definite increased risk of malignancy [2] with one study showing an 89%...
Findings and procedure details
Imaging
The following patients all have a diagnosis of Cowden Syndrome.
Case 1 demonstrates multiple features of the syndrome.
The MRI of the brain (Fig.
1) demonstrates Lhermitte-Duclos disease with a high T2,
low T1 lesion that does not enhance.
The classic tiger stripe pattern is best seen on the T2 weighted sequence.
The patient is also shown to have vascular malformations involving the lip (Fig.
2) and neck (Fig.
3).
There are several benign nodules within the thyroid.
The thyroid is also atrophic and...
Conclusion
Multiple Hamartoma Syndrome (also known as Cowden Syndrome and Cowden Disease) is a multisystem disease which is associated with an increased risk of developing a variety of both benign and malignant neoplasms.Imaging plays a vital role in diagnosis by recognising the pattern of disease that suggests the diagnosis,
identifying the extent of organs involved and screening for associated malignancies.
Personal information
Imaging Department,
St Bartholomew's Hospital and The Royal London Hospital,
Barts Health NHS Trust,
UK
References
1.
Hobert JA & Eng C,
PTEN hamartoma syndrome: An overview,
Genetics in Medicine (2009) 11(10) 687-694
2.
Gustafson S,
Zbuk KM,
Scacheri C & Eng C,
Cowden Syndrome,
Seminars in Oncology (2007) 24:428-434
3.
Riegert-Johnson DL et al,
Cancer and Lhermitte-Duclos Disease are common in Cowden syndrome patients.
Hereditary Cancer in Clinical Practice (2010) 8:6
4.
Farooq A,
Walker LJ,
Bowling J & Audiso RA,
Cowden Syndrome,
Cancer Treatment Reviews (2010) 36:577-583
5.
Pilarski R et al,
Cowden Syndrome and the PTEN Hamartoma Tumour...