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


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.


CONCLUSIONS
There is a discrepancy between the observed clinical radiosensitivity and the usual "predictive" radiosensitivity assays in this patient with Fanconi anaemia.
Marcou
Y
Y
Department of Clinical Oncology, St. Bartholomew's Hospital, West Smithfield, London EC1A 7BE, UK.
D'Andrea
A
A
Jeggo
P A
PA
Plowman
P N
PN
D000328:Adult; D002294:Carcinoma, Squamous Cell / Q000150:complications / Q000532:radiotherapy*; D002478:Cells, Cultured; D005199:Fanconi Anemia / Q000150:complications* / Q000235:genetics; D005260:Female; D005347:Fibroblasts / Q000528:radiation effects; D006801:Humans; D011836:Radiation Tolerance / Q000235:genetics; D014067:Tonsillar Neoplasms / Q000150:complications / Q000532:radiotherapy*