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

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 naive 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 center dot 9 years for the entire cohort. The 15-year OS of 82 center dot 5% (72-95%) was significantly decreased among A-T patients with malignancies, who had a median OS of 2 center dot 11 years, with a two-year-estimated OS of 50 center dot 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 center dot 9 (3 center dot 1-15.2), P < 0 center dot 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.

Automated summary

Ataxia-telangiectasia (A-T) is a hereditary immune system disorder with neurodegeneration that presents with ataxic gait and progressive muscle weakness. Patients with A-T have a significantly increased risk of cancer, particularly hematological malignancies, which can lead to early mortality. The study highlights the importance of cancer surveillance, prevention, and optimal treatment in this patient population.