TY  - JOUR
A1  - Bakhtiar, Shahrzad
A1  - Salzmann-Manrique, Emilia
A1  - Donath, Helena
A1  - Wölke, Sandra
A1  - Dücker, Ruth Pia
A1  - Fritzemeyer, Stefanie
A1  - Schubert, Ralf
A1  - Hünecke, Sabine
A1  - Kieslich, Matthias
A1  - Klingebiel, Thomas
A1  - Bader, Peter
A1  - Zielen, Stefan
T1  - The incidence and type of cancer in patients with ataxia-telangiectasia via a retrospective single-centre study
T2  - British journal of haematology
N2  - 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.
KW  - Ataxia-telangiectasia
KW  - primary immunodeficiency
KW  - malignancy
KW  - radio sensitivity
KW  - cancer surveillance
Y1  - 2021
UR  - http://publikationen.ub.uni-frankfurt.de/frontdoor/index/index/docId/63938
UR  - https://nbn-resolving.org/urn:nbn:de:hebis:30:3-639383
SN  - 1365-2141
VL  - 194
IS  - 5
SP  - 879
EP  - 887
PB  - Wiley-Blackwell
CY  - Oxford [u.a.]
ER  -