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

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

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Case Reports

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

Y Marcou et al. Radiother Oncol. 2001 Jul.

Abstract

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.

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