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. 2021 Sep;194(5):879-887.
doi: 10.1111/bjh.17736. Epub 2021 Aug 1.

The incidence and type of cancer in patients with ataxia-telangiectasia via a retrospective single-centre study

Shahrzad Bakhtiar  1 , Emilia Salzmann-Manrique  1 , Helena Donath  1 , Sandra Woelke  1 , Ruth P Duecker  1 , Stefanie Fritzemeyer  1 , Ralf Schubert  1 , Sabine Huenecke  1 , Matthias Kieslich  1 , Thomas Klingebiel  1 , Peter Bader  1 , Stefan Zielen  1
Affiliations

The incidence and type of cancer in patients with ataxia-telangiectasia via a retrospective single-centre study

Shahrzad Bakhtiar et al. Br J Haematol. 2021 Sep.

Abstract

Ataxia-telangiectasia (A-T) is a hereditary immune system disorder with neurodegeneration. Its first neurologic symptoms include ataxic gait in early childhood, with slowly progressive cerebellar ataxia, oculomotor apraxia, oculocutaneous telangiectasia, and progressive muscle weakness. Neonatal screening for severe T-cell deficiency was recently found to diagnose A-T patients with a significantly reduced naïve T-cell pool. Our study includes 69 A-T patients between 8 January 2002 and 1 December 2019. Nineteen cases of cancer were diagnosed in 17 patients (25%), with a median overall survival [OS; 95% cumulative indcidence (CI)] of 26·9 years for the entire cohort. The 15-year OS of 82·5% (72-95%) was significantly decreased among A-T patients with malignancies, who had a median OS of 2·11 years, with a two-year-estimated OS of 50·7% (31-82%). Haematological malignancies were the major causes of death within the initial years of life with a 15 times increased risk for death [HR (95% CI): 6·9 (3·1-15.2), P < 0·001] upon malignancy diagnosis. Male patients with A-T are at a higher cancer risk than their female counterparts. This manuscript highlights the need for cancer surveillance and prevention, as well as optimal treatment in this cohort.

Keywords: Ataxia-telangiectasia; cancer surveillance; malignancy; primary immunodeficiency; radio sensitivity.

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