Sézary syndrome with a complex, frameshift p53 gene mutation in a Chernobyl survivor

Autor: E. Calonje, Tim Crook, L. Brookes, Sean Whittaker, E. A. Fraser-Andrews, Jane M. McGregor
Rok vydání: 2001
Předmět:
Zdroj: Clinical and Experimental Dermatology. 26:683-685
ISSN: 0307-6938
DOI: 10.1046/j.1365-2230.2001.00919.x
Popis: We report a case of Sezary syndrome in a patient who was in the immediate vicinity of the Chernobyl nuclear reactor accident 18 months prior to presentation. A complex, frameshift p53 gene mutation was subsequently identified in tumour tissue, consisting of an 8-base pair deletion and a T→G point mutation in exon 7. This is characteristic of damage caused by ionizing radiation, which suggests a causal link between exposure to ionizing radiation and the subsequent development of Sezary syndrome, a rare form of T-cell leukaemia/lymphoma.
Databáze: OpenAIRE