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Case report: Multiple epstein-barr virus-associated smooth muscle tumours in a child with IL-2-inducible T-cell kinase mutation of undetermined clinical significance

BACKGROUND: EBV-associated smooth muscle tumours (EBV-SMTs) are uncommon neoplasms associated with immunodeficiency. The pathogenesis of EBV-SMTs is poorly understood. IL-2-inducible T-cell kinase (ITK), a member of the Tec family of tyrosine kinases, is the predominant Tec kinase in T cells. Resear...

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Autores principales: Wen, Qiongli, Ning, Jing, Mao, Zhiqun, Long, Xiangdang, He, Xiangling, Chen, Zhihong, Di, Qiuyi, Li, Qiaorong, Zhuo, Yu, Zhong, Gang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10350626/
https://www.ncbi.nlm.nih.gov/pubmed/37465420
http://dx.doi.org/10.3389/fped.2023.1189219
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author Wen, Qiongli
Ning, Jing
Mao, Zhiqun
Long, Xiangdang
He, Xiangling
Chen, Zhihong
Di, Qiuyi
Li, Qiaorong
Zhuo, Yu
Zhong, Gang
author_facet Wen, Qiongli
Ning, Jing
Mao, Zhiqun
Long, Xiangdang
He, Xiangling
Chen, Zhihong
Di, Qiuyi
Li, Qiaorong
Zhuo, Yu
Zhong, Gang
author_sort Wen, Qiongli
collection PubMed
description BACKGROUND: EBV-associated smooth muscle tumours (EBV-SMTs) are uncommon neoplasms associated with immunodeficiency. The pathogenesis of EBV-SMTs is poorly understood. IL-2-inducible T-cell kinase (ITK), a member of the Tec family of tyrosine kinases, is the predominant Tec kinase in T cells. Researchers have shown that ITK is involved in the pathogenesis of autoimmune diseases and carcinogenesis, and the loss of ITK function due to mutation in patients can lead to EBV-associated lymphoproliferation. Multiple Epstein-Barr virus–associated smooth muscle tumours with ITK mutation have rarely been reported. CASE PRESENTATION: A 6-year-old female child was admitted to the hospital due to recurrent bilateral hip pain for more than one year. Tumours were found in the lung, near the intracranial cavernous sinus and in the lumbar spine and paraspinal soft tissues by CT and MRI. The patient underwent vertebral tumour biopsy, which suggested low-grade myogenic or inflammatory myofibroblastic tumours, so the patient was given three courses of chemotherapy without symptom relief or mass reduction. The patient underwent lumbar mass resection, the pathological results indicated EBV-SMT, and a novel germline homozygous deletion mutation in the ITK gene was detected. The deletion mutation in this gene has not yet been reported and the clinical significance of the pathogenicity of the variant is unknown. Intrabronchial mass resection was performed under fibre bronchoscopy, and the pathological results indicated EBV-SMT. No significant recurrence or progression was observed after more than 2 years of follow-up. CONCLUSIONS: We present a rare case of multiple EBV-SMTs combined with ITK gene mutation. Some of the tumours were removed, and some were treated conservatively. There was no significant recurrence or progression after more than two years of follow-up. The optimal treatment regimen still needs to be further explored, and the relationship between ITK gene mutation at this locus and immunodeficiency and EBV-SMT warrants further investigation.
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spelling pubmed-103506262023-07-18 Case report: Multiple epstein-barr virus-associated smooth muscle tumours in a child with IL-2-inducible T-cell kinase mutation of undetermined clinical significance Wen, Qiongli Ning, Jing Mao, Zhiqun Long, Xiangdang He, Xiangling Chen, Zhihong Di, Qiuyi Li, Qiaorong Zhuo, Yu Zhong, Gang Front Pediatr Pediatrics BACKGROUND: EBV-associated smooth muscle tumours (EBV-SMTs) are uncommon neoplasms associated with immunodeficiency. The pathogenesis of EBV-SMTs is poorly understood. IL-2-inducible T-cell kinase (ITK), a member of the Tec family of tyrosine kinases, is the predominant Tec kinase in T cells. Researchers have shown that ITK is involved in the pathogenesis of autoimmune diseases and carcinogenesis, and the loss of ITK function due to mutation in patients can lead to EBV-associated lymphoproliferation. Multiple Epstein-Barr virus–associated smooth muscle tumours with ITK mutation have rarely been reported. CASE PRESENTATION: A 6-year-old female child was admitted to the hospital due to recurrent bilateral hip pain for more than one year. Tumours were found in the lung, near the intracranial cavernous sinus and in the lumbar spine and paraspinal soft tissues by CT and MRI. The patient underwent vertebral tumour biopsy, which suggested low-grade myogenic or inflammatory myofibroblastic tumours, so the patient was given three courses of chemotherapy without symptom relief or mass reduction. The patient underwent lumbar mass resection, the pathological results indicated EBV-SMT, and a novel germline homozygous deletion mutation in the ITK gene was detected. The deletion mutation in this gene has not yet been reported and the clinical significance of the pathogenicity of the variant is unknown. Intrabronchial mass resection was performed under fibre bronchoscopy, and the pathological results indicated EBV-SMT. No significant recurrence or progression was observed after more than 2 years of follow-up. CONCLUSIONS: We present a rare case of multiple EBV-SMTs combined with ITK gene mutation. Some of the tumours were removed, and some were treated conservatively. There was no significant recurrence or progression after more than two years of follow-up. The optimal treatment regimen still needs to be further explored, and the relationship between ITK gene mutation at this locus and immunodeficiency and EBV-SMT warrants further investigation. Frontiers Media S.A. 2023-07-03 /pmc/articles/PMC10350626/ /pubmed/37465420 http://dx.doi.org/10.3389/fped.2023.1189219 Text en © 2023 Wen, Ning, Mao, Long, He, Chen, Di, Li, Zhuo and Zhong. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY) (https://creativecommons.org/licenses/by/4.0/) . The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Pediatrics
Wen, Qiongli
Ning, Jing
Mao, Zhiqun
Long, Xiangdang
He, Xiangling
Chen, Zhihong
Di, Qiuyi
Li, Qiaorong
Zhuo, Yu
Zhong, Gang
Case report: Multiple epstein-barr virus-associated smooth muscle tumours in a child with IL-2-inducible T-cell kinase mutation of undetermined clinical significance
title Case report: Multiple epstein-barr virus-associated smooth muscle tumours in a child with IL-2-inducible T-cell kinase mutation of undetermined clinical significance
title_full Case report: Multiple epstein-barr virus-associated smooth muscle tumours in a child with IL-2-inducible T-cell kinase mutation of undetermined clinical significance
title_fullStr Case report: Multiple epstein-barr virus-associated smooth muscle tumours in a child with IL-2-inducible T-cell kinase mutation of undetermined clinical significance
title_full_unstemmed Case report: Multiple epstein-barr virus-associated smooth muscle tumours in a child with IL-2-inducible T-cell kinase mutation of undetermined clinical significance
title_short Case report: Multiple epstein-barr virus-associated smooth muscle tumours in a child with IL-2-inducible T-cell kinase mutation of undetermined clinical significance
title_sort case report: multiple epstein-barr virus-associated smooth muscle tumours in a child with il-2-inducible t-cell kinase mutation of undetermined clinical significance
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10350626/
https://www.ncbi.nlm.nih.gov/pubmed/37465420
http://dx.doi.org/10.3389/fped.2023.1189219
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