Normal cellular radiosensitivity in an adult Fanconi anaemia patient with marked clinical radiosensitivity
- PMID: 11410307
- DOI: 10.1016/s0167-8140(01)00370-x
Normal cellular radiosensitivity in an adult Fanconi anaemia patient with marked clinical radiosensitivity
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.
Comment in
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Normal cellular radiosensitivity in an adult Fanconi anaemia patient with marked clinical radiosensitivity.Radiother Oncol. 2002 Mar;62(3):350-1; author reply 351-2. doi: 10.1016/s0167-8140(01)00454-6. Radiother Oncol. 2002. PMID: 12175568 No abstract available.
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