{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T15:26:15Z","timestamp":1777389975481,"version":"3.51.4"},"reference-count":33,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2023,1,6]],"date-time":"2023-01-06T00:00:00Z","timestamp":1672963200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>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\u2019s oncology clinic.<\/jats:p>","DOI":"10.3390\/ijms24021099","type":"journal-article","created":{"date-parts":[[2023,1,6]],"date-time":"2023-01-06T02:20:30Z","timestamp":1672971630000},"page":"1099","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Successful Treatment of Large B-Cell Lymphoma in a Child with Compound Heterozygous Mutation in the ATM Gene"],"prefix":"10.3390","volume":"24","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4996-9157","authenticated-orcid":false,"given":"Jakub","family":"Czarny","sequence":"first","affiliation":[{"name":"Faculty of Medicine, Poznan University of Medical Sciences, 61-701 Pozna\u0144, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marta","family":"Andrzejewska","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Poznan University of Medical Sciences, 61-701 Pozna\u0144, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8836-8605","authenticated-orcid":false,"given":"Olga","family":"Zaj\u0105c-Spycha\u0142a","sequence":"additional","affiliation":[{"name":"Department of Pediatric Oncology, Hematology and Transplantology, Institute of Pediatrics, Pozna\u0144 University of Medical Sciences, 60-355 Pozna\u0144, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"El\u017cbieta","family":"Latos-Gra\u017cy\u0144ska","sequence":"additional","affiliation":[{"name":"Department of Pediatric Bone Marrow Transplantation, Oncology and Hematology, Wroc\u0142aw Medical University, 50-556 Wroc\u0142aw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3089-6947","authenticated-orcid":false,"given":"Agata","family":"Pastorczak","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Oncology and Hematology, Medical University of \u0141\u00f3d\u017a, 91-738 \u0141\u00f3d\u017a, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kamila","family":"Wypyszczak","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Oncology and Hematology, Medical University of \u0141\u00f3d\u017a, 91-738 \u0141\u00f3d\u017a, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aleksandra","family":"Szczawi\u0144ska-Pop\u0142onyk","sequence":"additional","affiliation":[{"name":"Department of Pediatric Pneumonology, Allergy and Clinical Immunology, Institute of Pediatrics, Pozna\u0144 University of Medical Sciences, 60-355 Pozna\u0144, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Izabela","family":"Niewiadomska-Wojna\u0142owicz","sequence":"additional","affiliation":[{"name":"Department of Pediatric Oncology, Hematology and Transplantology, Institute of Pediatrics, Pozna\u0144 University of Medical Sciences, 60-355 Pozna\u0144, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agnieszka","family":"Wzi\u0105tek","sequence":"additional","affiliation":[{"name":"Department of Pediatric Oncology, Hematology and Transplantology, Institute of Pediatrics, Pozna\u0144 University of Medical Sciences, 60-355 Pozna\u0144, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrycja","family":"Marciniak-St\u0119pak","sequence":"additional","affiliation":[{"name":"Department of Pediatric Oncology, Hematology and Transplantology, Institute of Pediatrics, Pozna\u0144 University of Medical Sciences, 60-355 Pozna\u0144, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Micha\u0142","family":"Dopiera\u0142a","sequence":"additional","affiliation":[{"name":"Department of Pediatric Oncology, Hematology and Transplantology, Institute of Pediatrics, Pozna\u0144 University of Medical Sciences, 60-355 Pozna\u0144, Poland"},{"name":"Department of Pathology and Clinical Immunology, Pozna\u0144 University of Medical Sciences, 60-355 Pozna\u0144, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jadwiga","family":"Ma\u0142dyk","sequence":"additional","affiliation":[{"name":"Department of Pathology, Medical University of Warsaw, 02-106 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9412-8931","authenticated-orcid":false,"given":"Katarzyna","family":"Jo\u0144czyk-Potoczna","sequence":"additional","affiliation":[{"name":"Department of Pediatric Radiology, Institute of Pediatrics, Pozna\u0144 University of Medical Sciences, 60-355 Pozna\u0144, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7239-4035","authenticated-orcid":false,"given":"Katarzyna","family":"Derwich","sequence":"additional","affiliation":[{"name":"Department of Pediatric Oncology, Hematology and Transplantology, Institute of Pediatrics, Pozna\u0144 University of Medical Sciences, 60-355 Pozna\u0144, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,1,6]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1186\/s13023-016-0543-7","article-title":"Ataxia Telangiectasia: A Review","volume":"11","author":"Wright","year":"2016","journal-title":"Orphanet J. 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