Normal cellular radiosensitivity in an adult Fanconi anaemia patient with marked clinical radiosensitivity

Radiother Oncol. 2001 Jul;60(1):75-9. doi: 10.1016/s0167-8140(01)00370-x.


Background: Fanconi anaemia is a rare disease associated with cellular sensitivity to chemicals (e.g. mitomycin C and diepoxybutane); variable but mild cellular radiosensitivity has also been reported.

Materials and methods: A 32-year-old patient with Fanconi anaemia and tonsillar carcinoma, treated by radiotherapy, was found to exhibit profound clinical radiosensitivity. Confluent, ulcerating oropharyngeal mucositis developed after a conventionally fractionated dose of 34Gy and healing was incomplete by 2 months after cessation of therapy.

Results: Cellular radiosensitivity assays and RPLD studies from this patient did not suggest any major detectable radiosensitivity.

Conclusion: There is a discrepancy between the observed clinical radiosensitivity and the usual "predictive" radiosensitivity assays in this patient with Fanconi anaemia.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Carcinoma, Squamous Cell / complications
  • Carcinoma, Squamous Cell / radiotherapy*
  • Cells, Cultured
  • Fanconi Anemia / complications*
  • Fanconi Anemia / genetics
  • Female
  • Fibroblasts / radiation effects
  • Humans
  • Radiation Tolerance* / genetics
  • Tonsillar Neoplasms / complications
  • Tonsillar Neoplasms / radiotherapy*