Incidence, Presentation, and Prognosis of Malignancies in Ataxia-Telangiectasia: A Report From the French National Registry of Primary Immune Deficiencies

Suarez, Félipe; Mahlaoui, Nizar; Canioni, Danielle; Andriamanga, Chantal; d’Enghien, Catherine Dubois; Brousse, Nicole; Jaı̈s, Jean-Philippe; Fischer, Alain; Hermine, Olivier; Stoppa‐Lyonnet, Dominique

doi:10.1200/jco.2014.56.5101

Cited by 202 publications

(175 citation statements)

References 28 publications

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“…[5][6][7][8]10,16,22,46 Our analysis showed that while approximately 50% of AT patients died from therapy-related toxicity, death from NHL and therapy-related complications was evenly distributed among NBS patients. In comparison, the NHL-BFM SG reported on 37 patients with chromosomal instability syndromes (AT and NBS) with 5-year EFS rates of 48%±12% for 16 patients with ALL/T-LBL (relapse/progression n=2; SML n=2; treatment-related death n=2; alive n=10) and 51%±16% for 21 patients with mature B-cell NHL (relapse/progression n=2; SML n=2; treatment-related death n=1; dead from underlying disorder n=4; alive n=12).…”

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confidence: 97%

Non-Hodgkin lymphoma and pre-existing conditions: spectrum, clinical characteristics and outcome in 213 children and adolescents

et al. 2016

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C hildren and adolescents with pre-existing conditions such as DNA repair defects or other primary immunodeficiencies have an increased risk of non-Hodgkin lymphoma. However, largescale data on patients with non-Hodgkin lymphoma and their entire spectrum of pre-existing conditions are scarce. A retrospective multinational study was conducted by means of questionnaires sent out to the national study groups or centers, by the two largest consortia in childhood non-Hodgkin lymphoma, the European Intergroup for Childhood non-Hodgkin Lymphoma, and the international BerlinFrankfurt-Münster Study Group. The study identified 213 patients with non-Hodgkin lymphoma and a pre-existing condition. Four subcategories were established: a) cancer predisposition syndromes (n=124, 58%); b) primary immunodeficiencies not further specified (n=27, 13%); c) genetic diseases with no increased cancer risk (n=40, 19%); and d) non-classifiable conditions (n=22, 10%). Seventy-nine of 124 (64%) cancer predispositions were reported in groups with more than 20 patients: ataxia telangiectasia (n=32), Nijmegen breakage syndrome (n=26), constitutional mis-

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confidence: 97%

Non-Hodgkin lymphoma and pre-existing conditions: spectrum, clinical characteristics and outcome in 213 children and adolescents

et al. 2016

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“…Studies pointed to a high incidence of lymphoid malignancies In patients with A-T, most notably T-cell acute lymphoblastic leukemias. B-cell non-Hodgkin lymphoma and Hodgkin lymphoma were also reported to be frequent 13,14 . In A-T patients, death is usually because of pulmonary infections or malignancies.…”

Section: Discussionmentioning

confidence: 99%

“…There is only one other A-T child reported by Brasseur et al 3 ; that was a 9-yearold girl with papillary carcinoma. Suarez et al 13 identified 279 patients with A-T and revealed 69 patients with cancer. Sixty-one of whom were hematologic malignancies.…”

Section: Discussionmentioning

confidence: 99%

An unusual manifestation: Papillary thyroid carcinoma in a patient with ataxia-telengiectasia

Severcan¹,

Edeer-Karaca²,

Özen³

et al. 2016

Turk J Pediatr

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A 13-year-old Turkish girl was diagnosed with ataxia telengiectasia at the age of 8 years. When she was 12 years old, multi-nodular goiter was detected by physical examination and ultrasonography. She underwent thyroidectomy and histopathologic investigation revealed a papillary carcinoma with follicular variant. The patient received post-operative radioiodine therapy as well as L-thyroxine treatment because she had residual lesions. Up until now, she is the first Turkish child wit A-T and thyroid carcinoma described in the literature.

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“…In addition to the initial clinical manifestations of ataxia, AT patients are prone to develop immune disorders, cancer, respiratory infections and premature death by the second or third decade of life (2)(3)(4)(5)(6)(7). Although palliative and pharmacological treatments have modestly improved patient care, limited understanding of underlying mechanisms of AT have hindered therapeutic development.…”

Section: Introductionmentioning

confidence: 99%

A novel porcine model of ataxia telangiectasia reproduces neurological features and motor deficits of human disease

et al. 2015

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Ataxia telangiectasia (AT) is a progressive multisystem disorder caused by mutations in the AT-mutated (ATM) gene. AT is a neurodegenerative disease primarily characterized by cerebellar degeneration in children leading to motor impairment. The disease progresses with other clinical manifestations including oculocutaneous telangiectasia, immune disorders, increased susceptibly to cancer and respiratory infections. Although genetic investigations and physiological models have established the linkage of ATM with AT onset, the mechanisms linking ATM to neurodegeneration remain undetermined, hindering therapeutic development. Several murine models of AT have been successfully generated showing some of the clinical manifestations of the disease, however they do not fully recapitulate the hallmark neurological phenotype, thus highlighting the need for a more suitable animal model. We engineered a novel porcine model of AT to better phenocopy the disease and bridge the gap between human and current animal models. The initial characterization of AT pigs revealed early cerebellar lesions including loss of Purkinje cells (PCs) and altered cytoarchitecture suggesting a developmental etiology for AT and could advocate for early therapies for AT patients. In addition, similar to patients, AT pigs show growth retardation and develop motor deficit phenotypes. By using the porcine system to model human AT, we established the first animal model showing PC loss and motor features of the human disease. The novel AT pig provides new opportunities to unmask functions and roles of ATM in AT disease and in physiological conditions. † These authors contributed equally.

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Incidence, Presentation, and Prognosis of Malignancies in Ataxia-Telangiectasia: A Report From the French National Registry of Primary Immune Deficiencies

Abstract: 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.

Cited by 202 publications

References 28 publications

Non-Hodgkin lymphoma and pre-existing conditions: spectrum, clinical characteristics and outcome in 213 children and adolescents

Non-Hodgkin lymphoma and pre-existing conditions: spectrum, clinical characteristics and outcome in 213 children and adolescents

An unusual manifestation: Papillary thyroid carcinoma in a patient with ataxia-telengiectasia

A novel porcine model of ataxia telangiectasia reproduces neurological features and motor deficits of human disease

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