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Διεθνείς Δημοσιευσεις - Cases Journal

Article Index
Cowden syndrome
Case presentation
Surgical planning and technique
Conclusion
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Cowden syndrome. Managing multiple skeletal metastases of different origin: a case report

Antonios Angoules1; Evangelia Maria Tsapakis2; Ioannis Polyzois1; Zakareya Gamie1; James Julian Rankine1; Eleftherios Tsiridis1

1. Academic Orthopaedic Unit, Leeds General Infirmary, Leeds School of Medicine, Leeds, LS1 3EX, UK, 2. Institute of Psychiatry, King's College London, London, UK

Corresponding author:
Eleftherios Tsiridis
E-mail: etsiridis [at] doctors.org.uk

Abstract

Background

Cowden Syndrome is a rare autosomal dominant multiple hamartomatous condition, characterised by both benign and malignant tumours affecting multiple systems.

Case presentation

We present a 47-year-old female patient with thigh pain that was diagnosed with Cowden syndrome 20 years ago and developed multiple and different skeletal metastases which became resistant to radio-chemotherapy. A percutaneous plate fixation of the distal femur with an intralesional excision and cementoplasty of the metastasis was performed initially. This was combined with a cemented total hip arthroplasty using an Exeter long revision stem and a cementoplasty of the femoral canal for the proximal lesions.

Conclusion

A meticulous approach to her complex metastatic disease resulted in successful palliative prophylactic reconstructive surgery that improved her quality of life, allowing her independent pain free walking for 12 months.

Received: 2008 October 16; Accepted: 2008 October 23
Cases J. 2008 Oct 23; 1
doi: 10.1186/1757-1626-1-265

Copyright

Copyright © 2008 Angoules et al; licensee BioMed Central Ltd.


Background

Cowden Syndrome (CS) is a rare autosomal dominant disorder characterised by multiple hamartomas and an increased risk of breast, thyroid and endometrial carcinomas [1,2] Germline mutations in the tumour suppressor gene PTEN (phosphatase and tensin homolog) chromosome 10q23.2, which codes for a lipid phosphate mediating cell cycle arrest and apoptosis, were first described in Cowden Syndrome[3] In the next years since PTEN had been identified as the major CS susceptibility gene[4], a number of inherited cancer and developmental syndromes were associated with germline PTEN mutations. It has therefore been proposed that all such syndromes based on molecular defects are classified as PTEN Hamartoma Tumour Syndromes (PHTS)[2,5]. Irrespective of clinical phenotype however, the discovery of a germline PTEN mutation should trigger cancer risk surveillance[6]. Skeletal metastases of multiple origins are difficult to treat and palliative surgery usually requires a combination of approaches and techniques.