Two primary osteosarcomas in a patient with Rothmund-Thomson syndrome

Rothmund-Thomson syndrome is an autosomal recessive disorder characterized by poikilodermatous skin changes that develop in infancy, Associated manife stations include juvenile cataracts, sparse hair, short stature, skeletal d efects, dystrophic nails and teeth, and hypogonadism, An increased incidenc e of malignancy, including osteosarcoma, has been reported in patients with Rothmund-Thomson syndrome, The molecular basis of the disorder is not know n, This report describes a patient with Rothmund-Thomson syndrome in whom t wo primary osteosarcomas developed 12 years apart, The presentation, diagno sis, and treatment of osteosarcoma ill this patient with Rothmund-Thomson s yndrome are described, Cytogenetic and molecular analysis of peripheral blo od and skin fibroblasts had low level mosaicism for trisomy of chromosomes 2 and 8, Although several patients have been described with mosaic trisomy 8 and i(2q) (mosaic isochromosome for the long arm of chromosome 2), the pa tient described here is the first to have mosaic trisomy for the entire chr omosomes 2 and 8, The cytogenetic findings in this patient are consistent w ith an underlying defect in chromosomal stability.