Osteogenic sarcoma and Rothmund Thomson syndrome

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

Research output: Contribution to journalArticle

23 Citations (Scopus)

Abstract

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
Volume118
Issue number5
DOIs
StatePublished - May 1992

Fingerprint

Rothmund-Thomson Syndrome
Osteosarcoma
Hypogonadism
Radiation Tolerance
Nails
Methotrexate
DNA Repair
Doxorubicin
Atrophy
Fibroblasts
Skin
Incidence
Therapeutics
Neoplasms

Keywords

  • Chemotherapy
  • Osteosarcoma
  • Rothmund Thomson syndrome

ASJC Scopus subject areas

  • Oncology
  • Cancer Research

Cite this

Varughese, M., Leavey, P., Smith, P., Sneath, R., Breatnach, F., & O'Meara, A. (1992). Osteogenic sarcoma and Rothmund Thomson syndrome. Journal of Cancer Research and Clinical Oncology, 118(5), 389-390. https://doi.org/10.1007/BF01294445

Osteogenic sarcoma and Rothmund Thomson syndrome. / Varughese, M.; Leavey, P.; Smith, P.; Sneath, R.; Breatnach, F.; O'Meara, A.

In: Journal of Cancer Research and Clinical Oncology, Vol. 118, No. 5, 05.1992, p. 389-390.

Research output: Contribution to journalArticle

Varughese, M, Leavey, P, Smith, P, Sneath, R, Breatnach, F & O'Meara, A 1992, 'Osteogenic sarcoma and Rothmund Thomson syndrome', Journal of Cancer Research and Clinical Oncology, vol. 118, no. 5, pp. 389-390. https://doi.org/10.1007/BF01294445
Varughese, M. ; Leavey, P. ; Smith, P. ; Sneath, R. ; Breatnach, F. ; O'Meara, A. / Osteogenic sarcoma and Rothmund Thomson syndrome. In: Journal of Cancer Research and Clinical Oncology. 1992 ; Vol. 118, No. 5. pp. 389-390.
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