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Medline ® Abstract for Reference 54

of 'Ataxia-telangiectasia'

Incidence, presentation, and prognosis of malignancies in ataxia-telangiectasia: a report from the French national registry of primary immune deficiencies.
Suarez F, Mahlaoui N, Canioni D, Andriamanga C, Dubois d'Enghien C, Brousse N, Jais JP, Fischer A, Hermine O, Stoppa-Lyonnet D
J Clin Oncol. 2015 Jan;33(2):202-8. Epub 2014 Dec 8.
PURPOSE: Biallelic mutations in ATM cause ataxia-telangiectasia (AT), a rare inherited disease with a high incidence of cancer. Precise estimates of the risk, presentation, and outcomes of cancer in patients with AT need to be addressed in large series.
PATIENTS AND METHODS: In this large retrospective cohort, 69 patients with cancers (24.5%) were identified among 279 patients with AT. Centralized review was performed on 60% of the lymphomas. Incidence rates were compared with the French population, and risk factors were analyzed.
RESULTS: Eight patients developed acute leukemias (including four T-cell acute lymphoblastic leukemias), 12 developed Hodgkin lymphoma (HL), 38 developed non-Hodgkin lymphoma (NHL), three developed T-cell prolymphocytic leukemia (T-PLL), and eight developed carcinoma at a median age of 8.3, 10.6, 9.7, 24.2, and 31.4 years, respectively (P<.001). The majority of NHLs were aggressive B-cell NHL. Epstein-Barr virus was associated with all of the HLs and 50% of the NHLs. Overall survival was shorter in patients with AT who developed cancer compared with those who did not develop cancer (15 v 24 years, respectively; P<.001). Survival was improved in patients who achieved a major response to treatment (3.46 v 0.87 years for major v minor responses, respectively; P = .011). Immunodeficiency was associated with increased risk of cancer. ATM mutation type was associated with a difference in survival in the entire cohort but not with cancer incidence or cancer survival.
CONCLUSION: B-cell NHL, HL, and acute lymphoblastic leukemia occur at a high rate and earlier age than carcinomas in AT. T-PLLs are rarer than initially reported. Prognosis is poor, but patients may benefit from treatment with an improved survival.
Felipe Suarez, Nizar Mahlaoui, Danielle Canioni, Nicole Brousse, Jean-Philippe Jais, Alain Fischer, and Olivier Hermine, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris; Felipe Suarez, Nizar Mahlaoui, Chantal Andriamanga, Alain Fischer, and Olivier Hermine, French National Reference Center for Primary Immune Deficiency; Felipe Suarez, Nizar Mahlaoui, Jean-Philippe Jais, Alain Fischer, and Olivier Hermine, Imagine Institute, Institut National de la Recherche Scientifique UnitéMixte de Recherche 1163, Sorbonne Paris Cité, UniversitéParis Descartes; Felipe Suarez and Olivier Hermine, Centre National de la Recherche Scientifique Equipe de Recherche Labellisée 8254; Danielle Canioni, Nicole Brousse, and Dominique Stoppa-Lyonnet, UniversitéParis Descartes; Catherine Dubois d'Enghien and Dominique Stoppa-Lyonnet, Institut Curie; and Alain Fischer, Collège de France, Paris, France. felipe.suarez@nck.aphp.fr.