Rheumatology 2003; 42: 798-800
© 2003 British Society for Rheumatology
Letters to the Editor |
Triple primary sarcoma in Werner syndrome with a novel mutation
Department of Orthopaedic Surgery, Shinshu University School of Medicine, Matsumoto,
1 Department of Pathology, The Cancer Institute, Japanese Foundation for Cancer Research, Tokyo,
2 AGENE Research Institute, Kanagawa and
3 Department of Rheumatology, Tokyo Metropolitan Ohtsuka Hospital, Tokyo, Japan
| The first 10% of the full text of this article appears below. |
SIR, Werner syndrome (WS) is an autosomal recessive disorder that causes premature ageing with an increased risk of malignant neoplasia, osteoporosis and, sometimes, joint osteoarthritis. The average life span is 47 yr [1] and the main causes of death are atherosclerotic complications and malignant tumours, such as thyroid cancer, malignant melanoma and a variety of sarcomas [1].
Previously, WS was diagnosed primarily by the clinical findings, but it is now possible to make a diagnosis based on both clinical and genetic methods as the disease-associated gene has been identified [2