Malignant peripheral nerve sheath tumor in a patient with Werner's syndrome

Abstract

Werner's syndrome is a rare autosomal recessive disorder characterized by features of premature aging. It is attributed to an autosomal recessive mutation on chromosome 8p12 where the Werner gene is located. This gene encodes a protein homologous to the RecQ-type DNA helicase, an enzyme that unwinds double-stranded DNA into single-stranded DNA. The association of Werner's syndrome with malignant tumors is widely reported in the literature. Both bone and soft tissue sarcomas have been described. We report a patient with Werner's syndrome who developed a malignant peripheral nerve sheath tumor of the left popliteal fossa.