Osteogenic sarcoma and Rothmund Thomson syndrome

M. Varughese, P. Leavey, P. Smith, R. Sneath, F. Breatnach, A. O'Meara

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23 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)389-390
Number of pages2
JournalJournal of Cancer Research and Clinical Oncology
Issue number5
StatePublished - May 1992


  • Chemotherapy
  • Osteosarcoma
  • Rothmund Thomson syndrome

ASJC Scopus subject areas

  • Oncology
  • Cancer Research

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