Osteogenic sarcoma and Rothmund Thomson syndrome

Rothmund Thomson syndrome (RTS) is a rare autosomal recessive disorder characterised by poikiloderma, dermal atrophy, dystrophic nails, short stature and hypogonadism. An increased incidence of malignancy has been reported in patients with this syndrome secondary, it is postulated, to DNA repair def...

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Bibliographic Details
Published in:Journal of cancer research and clinical oncology 1992-05, Vol.118 (5), p.389-390
Main Authors: VARUGHESE, M, LEAVEY, P, SMITH, P, SNEATH, R, BREATNACH, F, O'MEARA, A
Format: Article
Language:English
Subjects:
Abnormalities, Multiple
Biological and medical sciences
Bone Neoplasms - drug therapy
Child
Diseases of the osteoarticular system
Female
Humans
Medical sciences
Osteosarcoma - drug therapy
Rothmund-Thomson Syndrome - complications
Syndrome
Tumors of striated muscle and skeleton
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Summary:Rothmund Thomson syndrome (RTS) is a rare autosomal recessive disorder characterised by poikiloderma, dermal atrophy, dystrophic nails, short stature and hypogonadism. An increased incidence of malignancy has been reported in patients with this syndrome secondary, it is postulated, to DNA repair defects. We report the occurrence of an osteogenic sarcoma in an 11-year-old Irish girl with RTS. Although fibroblast cultures demonstrated enhanced radiosensitivity, there was no undue toxicity associated with treatment, which included methotrexate, cisplatinum and Adriamycin. Following conservative surgery, she is currently off treatment and disease-free 2 years from diagnosis.
ISSN:0171-5216
1432-1335
DOI:10.1007/BF01294445