Patients with Ataxia-Telangiectasia Syndrome: Need for Individualised Management in the Framework of a Radiotherapeutic Regime

ΑΚΤΙΝΟΤΕΧΝΟΛΟΓΙΑ 35, 2024
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Published: Sep 21, 2024
DOI: https://doi.org/10.12681/akttech.37922
Keywords:
Ataxia-Telangiectasia, ATM gene, ATM mutation, hyperadiosensitivity, radiotherapy, breast cancer, mammography
Katerina Vasileiou
Central Office of 2nd Regional Health Authority of Piraeus & Aegean, Greece
Fragkiski Ioanna Sofiou
General Hospital of Nikaia "Aghios Panteleimon", Greece
Athina Kanakidou
Central Office of 2nd Regional Health Authority of Piraeus & Aegean, Community Health Center of Piraeus, Greece
Antonios P. Stefanoyiannis
University General Hospital of Athens "Attikon", Greece
Athanasios Bakas
Department of Biomedical Sciences, University of West Attica, Greece
Abstract

Aim: Ataxia-Telangiectasia (A-T) syndrome is a rare disease of cerebellum, which is mainly characterised by hyperadiosensitivity and increased predisposition for carcinogenesis. Radiobiology has suggested that mutations in the ATM gene lead to inappropriate repair of DNA lesions and non-activation of cell cycle checkpoints after irradiation. The aim of this paper is to highlight the individualised characteristics and corresponding manipulations of the A-T patients in the framework of a radiotherapeutic regime, as well as the problems that may arise in a radiotherapy department in case of ignorance of the disease.


Material and methods: The syndrome, the radiological causes of hypersensitivity and carcinogenesis, imaging methods and patient cases during radiotherapy are described through a literature review.


Conclusions: A-T patients constitute cases requiring special management during the application of a radiotherapeutic protocol, due to hyperadiosensitivity. The efficacy of treatment planning is significantly facilitated by the prompt syndrome diagnosis, which additionally results both in toxicity and mortality reduction. Consequently, the issues of promptly carrying out the corresponding sensitivity tests, along with the adequate training of the health professionals involved in the radiotherapeutic regime, are of utmost importance.

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