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Successful Treatment of Large B-Cell Lymphoma in a Child with Compound Heterozygous Mutation in the ATM Gene
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 malignanc...
Autores principales: | , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9866559/ https://www.ncbi.nlm.nih.gov/pubmed/36674612 http://dx.doi.org/10.3390/ijms24021099 |
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author | Czarny, Jakub Andrzejewska, Marta Zając-Spychała, Olga Latos-Grażyńska, Elżbieta Pastorczak, Agata Wypyszczak, Kamila Szczawińska-Popłonyk, Aleksandra Niewiadomska-Wojnałowicz, Izabela Wziątek, Agnieszka Marciniak-Stępak, Patrycja Dopierała, Michał Małdyk, Jadwiga Jończyk-Potoczna, Katarzyna Derwich, Katarzyna |
author_facet | Czarny, Jakub Andrzejewska, Marta Zając-Spychała, Olga Latos-Grażyńska, Elżbieta Pastorczak, Agata Wypyszczak, Kamila Szczawińska-Popłonyk, Aleksandra Niewiadomska-Wojnałowicz, Izabela Wziątek, Agnieszka Marciniak-Stępak, Patrycja Dopierała, Michał Małdyk, Jadwiga Jończyk-Potoczna, Katarzyna Derwich, Katarzyna |
author_sort | Czarny, Jakub |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-9866559 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-98665592023-01-22 Successful Treatment of Large B-Cell Lymphoma in a Child with Compound Heterozygous Mutation in the ATM Gene Czarny, Jakub Andrzejewska, Marta Zając-Spychała, Olga Latos-Grażyńska, Elżbieta Pastorczak, Agata Wypyszczak, Kamila Szczawińska-Popłonyk, Aleksandra Niewiadomska-Wojnałowicz, Izabela Wziątek, Agnieszka Marciniak-Stępak, Patrycja Dopierała, Michał Małdyk, Jadwiga Jończyk-Potoczna, Katarzyna Derwich, Katarzyna Int J Mol Sci Case Report 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. MDPI 2023-01-06 /pmc/articles/PMC9866559/ /pubmed/36674612 http://dx.doi.org/10.3390/ijms24021099 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Case Report Czarny, Jakub Andrzejewska, Marta Zając-Spychała, Olga Latos-Grażyńska, Elżbieta Pastorczak, Agata Wypyszczak, Kamila Szczawińska-Popłonyk, Aleksandra Niewiadomska-Wojnałowicz, Izabela Wziątek, Agnieszka Marciniak-Stępak, Patrycja Dopierała, Michał Małdyk, Jadwiga Jończyk-Potoczna, Katarzyna Derwich, Katarzyna Successful Treatment of Large B-Cell Lymphoma in a Child with Compound Heterozygous Mutation in the ATM Gene |
title | Successful Treatment of Large B-Cell Lymphoma in a Child with Compound Heterozygous Mutation in the ATM Gene |
title_full | Successful Treatment of Large B-Cell Lymphoma in a Child with Compound Heterozygous Mutation in the ATM Gene |
title_fullStr | Successful Treatment of Large B-Cell Lymphoma in a Child with Compound Heterozygous Mutation in the ATM Gene |
title_full_unstemmed | Successful Treatment of Large B-Cell Lymphoma in a Child with Compound Heterozygous Mutation in the ATM Gene |
title_short | Successful Treatment of Large B-Cell Lymphoma in a Child with Compound Heterozygous Mutation in the ATM Gene |
title_sort | successful treatment of large b-cell lymphoma in a child with compound heterozygous mutation in the atm gene |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9866559/ https://www.ncbi.nlm.nih.gov/pubmed/36674612 http://dx.doi.org/10.3390/ijms24021099 |
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