Imaging in children with ataxia-telangiectasia—The radiologist’s approach

Jończyk‐Potoczna, Katarzyna; Potoczny, Jakub; Szczawińska-Popłonyk, Aleksandra

doi:10.3389/fped.2022.988645

Cited by 4 publications

(4 citation statements)

References 54 publications

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“…It was assessed that the possible benefits from lymphoma presence verification outweigh the risk of cancerogenesis due to the increased cell radiosensitivity. However, each decision regarding X-ray radiation application in DNA repair deficiency disorder patients should be considered individually [ 32 ]. This case shows the need for pathomorphological verification of the reason for lymphadenopathy in AT pediatric patients.…”

Section: Discussionmentioning

confidence: 99%

Successful Treatment of Large B-Cell Lymphoma in a Child with Compound Heterozygous Mutation in the ATM Gene

Czarny

Andrzejewska

Zając‐Spychała

et al. 2023

IJMS

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Ataxia-telangiectasia (AT) is a multisystemic neurodegenerative inborn error of immunity (IEI) characterized by DNA repair defect, chromosomal instability, and hypersensitivity to ionizing radiation. Impaired DNA double-strand break repair determines a high risk of developing hematological malignancies, especially lymphoproliferative diseases. Poor response to treatment, excessive chemotherapy toxicities, and the need for avoiding exposure to ionizing radiation make the successful clinical management of patients with AT challenging for oncologists. We describe the favorable outcome of the LBCL with IRF4 rearrangement at stage III in a 7-year-old female patient diagnosed with AT. The patient was treated according to the B-HR arm of the INTER-B-NHL-COP 2010 protocol, including the administration of rituximab, cyclophosphamide, methotrexate, prednisone, etc. She presented excessive treatment toxicities despite individually reduced doses of methotrexate and cyclophosphamide. However, in the MRI there was no significant reduction in pathologic lymph nodes after three immunochemotherapy courses. Therefore, a lymph node biopsy was taken. Its subsequent histopathological examination revealed tuberculosis-like changes, though tuberculosis suspicion was excluded. After two following immunochemotherapy courses, PET-CT confirmed complete remission. From March 2022 onwards, the patient has remained in remission under the care of the outpatient children’s oncology clinic.

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Section: Discussionmentioning

confidence: 99%

Successful Treatment of Large B-Cell Lymphoma in a Child with Compound Heterozygous Mutation in the ATM Gene

Czarny

Andrzejewska

Zając‐Spychała

et al. 2023

IJMS

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“…methotrexate). In this regard, lung Magnetic Resonance Imaging (MRI) and/or US should be performed in such patients for their radiological follow-up in order to minimize the cancer-related risk of ionizing radiation in DNA double-strand break repair (DSBR) diseases [ 14 , 15 ].…”

Section: Discussionmentioning

confidence: 99%

A child with polyarthritis and chronic lung disease: a case report of ataxia-telangiectasia

De Nardi,

Natale,

Messia

et al. 2023

Ital J Pediatr

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Background Ataxia-telangiectasia (A-T) is a rare autosomal recessive DNA repair disorder, characterized by progressive cerebellar degeneration, telangiectasia, immunodeficiency, recurrent sinopulmonary infections, radiation sensitivity, premature aging and predisposition to cancer. Although the association with autoimmune and chronic inflammatory conditions such as vitiligo, thrombocytopenia and arthritis has occasionally been reported, an onset with articular involvement at presentation is rare. Case presentation We herein report the case of a 7-year-old Caucasian girl who was admitted to the Rheumatology Department with a history of febrile chough and polyarthritis which led initially to the suspicion of an autoinflammatory disease. She had overt polyarthritis with knees deformities and presented with severe pneumonia. A chest Computed Tomography (CT) scan showed bilateral bronchiectasis, parenchymal consolidation and interstitial lung disease; rheumatoid factor and type I interferon signature resulted negative, therefore excluding COatomer Protein subunit Alpha (COPA) syndrome. A diagnosis of sarcoidosis had been suspected based on histological evidence of granulomatous liver inflammation, but ruled out after detecting normal angiotensin converting enzyme and chitotriosidase blood levels. Based on her past medical history characterized by at least six episodes of pneumonia in the previous 4 years, immunological phenotyping was performed. This showed complete IgA and IgE deficiency with defective antigen-specific antibodies to Pneumococcal, Tetanus toxin and Hemophilus Influenzae B vaccines. Additionally, low numbers of B cells and recent thymic emigrants (RTE) were found (CD4Ra 1.4%), along with a low CD4+/CD8 + T cells ratio (< 1). Finally, based on gait disturbances (wobbly wide-based walking), serum alfa-fetoprotein was dosed, which resulted increased at 276 ng/ml (normal value < 7 ng/ml). A diagnosis of Ataxia-Telangiectasia was made, strengthened by the presence of bulbar telangiectasia, and then confirmed by Whole Exome Sequencing (WES). Conclusions Although rare, A-T should always be ruled out in case of pulmonary bronchiectasis and gait disturbances even in the absence of bulbar or skin telangiectasia. Autoimmune and granulomatous disorders must to be considered as differential diagnosis.

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“…24,27,31 It has been shown recently that MRI can have an important role in the assessment of the respiratory tract in paediatric A-T patients, which is commonly affected by a large spectrum of respiratory disorders, as well as the abdominal cavity. 32 As a first step to designing a prospective clinical trial of cancer surveillance in people with A-T, which will in turn lead to evidence-based guidelines for cancer surveillance, we have undertaken an international survey of current practice and an e-Delphi consensus-finding exercise of clinical A-T experts. The Delphi technique has been used in health research as a method that aims to achieve consensus on an important subject and to develop new concepts, especially when there is a lack of scientific evidence.…”

Section: Introductionmentioning

confidence: 99%

“…It has been shown recently that MRI can have an important role in the assessment of the respiratory tract in paediatric A‐T patients, which is commonly affected by a large spectrum of respiratory disorders, as well as the abdominal cavity. 32 …”

Section: Introductionmentioning

confidence: 99%

Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi‐based consensus survey of international experts

et al. 2023

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Background/Objectives Ataxia telangiectasia (A‐T) is a multiorgan disorder with increased vulnerability to cancer. Despite this increased cancer risk, there are no widely accepted guidelines for cancer surveillance in people affected by A‐T. We aimed to understand the current international practice regarding cancer surveillance in A‐T and agreed‐upon approaches to develop cancer surveillance in A‐T. Design/Methods We used a consensus development method, the e‐Delphi technique, comprising three rounds. Round 1 consisted of a Delphi questionnaire and a survey that collected the details of respondents' professional background, experience, and current practice of cancer surveillance in A‐T. Rounds 2 and 3 were designed based on previous rounds and modified according to the comments made by the panellists. The pre‐specified consensus threshold was ≥75% agreement. Results Thirty‐five expert panellists from 13 countries completed the study. The survey indicated that the current practice of cancer surveillance varies widely between experts and centres'. Consensus was reached that evidence‐based guidelines are needed for cancer surveillance in people with A‐T, with separate recommendations for adults and children. Statements relating to the tests that should be included, the age for starting and stopping cancer surveillance and the optimal surveillance interval were also agreed upon, although in some areas, the consensus was that further research is needed. Conclusion The international expert consensus statement confirms the need for evidence‐based cancer surveillance guidelines in A‐T, highlights key features that the guidelines should include, and identifies areas of uncertainty in the expert community. This elucidates current knowledge gaps and will inform the design of future clinical trials.

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Imaging in children with ataxia-telangiectasia—The radiologist’s approach

Cited by 4 publications

References 54 publications

Successful Treatment of Large B-Cell Lymphoma in a Child with Compound Heterozygous Mutation in the ATM Gene

Successful Treatment of Large B-Cell Lymphoma in a Child with Compound Heterozygous Mutation in the ATM Gene

A child with polyarthritis and chronic lung disease: a case report of ataxia-telangiectasia

Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi‐based consensus survey of international experts

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