Two primary osteosarcomas in a patient with Rothmund-Thomson syndrome.
Publication/Presentation Date
9-1-2000
Abstract
Rothmund-Thomson syndrome is an autosomal recessive disorder characterized by poikilodermatous skin changes that develop in infancy. Associated manifestations include juvenile cataracts, sparse hair, short stature, skeletal defects, dystrophic nails and teeth, and hypogonadism. An increased incidence of malignancy, including osteosarcoma, has been reported in patients with Rothmund-Thomson syndrome. The molecular basis of the disorder is not known. This report describes a patient with Rothmund-Thomson syndrome in whom two primary osteosarcomas developed 12 years apart. The presentation, diagnosis, and treatment of osteosarcoma in this patient with Rothmund-Thomson syndrome are described. Cytogenetic and molecular analysis of peripheral blood 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 patient described here is the first to have mosaic trisomy for the entire chromosomes 2 and 8. The cytogenetic findings in this patient are consistent with an underlying defect in chromosomal stability.
Issue
378
First Page
213
Last Page
223
ISSN
0009-921X
Published In/Presented At
Anbari, K. K., Ierardi-Curto, L. A., Silber, J. S., Asada, N., Spinner, N., Zackai, E. H., Belasco, J., Morrissette, J. D., & Dormans, J. P. (2000). Two primary osteosarcomas in a patient with Rothmund-Thomson syndrome. Clinical orthopaedics and related research, (378), 213–223. https://doi.org/10.1097/00003086-200009000-00032
Disciplines
Medicine and Health Sciences
PubMedID
10986997
Department(s)
Department of Surgery
Document Type
Article