Clinical manifestations, toxicities, and outcome of two children with Nijmegen breakage syndrome and lymphoid malignancies – case reports

Aleksandra Filipiuk; Agata Kozakiewicz; Kamil Kośmider; Katarzyna Karska; Monika Lejman; Joanna Zawitkowska

doi:10.5114/polp.2022.114682

eISSN: 2300-8660
ISSN: 0031-3939

Pediatria Polska - Polish Journal of Paediatrics

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abstract:

Case report

Clinical manifestations, toxicities, and outcome of two children with Nijmegen breakage syndrome and lymphoid malignancies – case reports

Aleksandra Filipiuk

¹

,

Agata Kozakiewicz

¹

,

Kamil Kośmider

¹

,

Katarzyna Karska

²

,

Monika Lejman

³

,

Joanna Zawitkowska

²

Student Scientific Society, Department of Paediatric Haematology, Oncology, and Transplantology, Medical University of Lublin, Poland
Department of Paediatric Haematology, Oncology, and Transplantology, Medical University of Lublin, Poland
Laboratory of Genetic Diagnostics, Department of Paediatric Haematology, Oncology, and Transplantology, Medical University of Lublin, Poland

Pediatr Pol 2022; 97 (1): 48–52

DOI: https://doi.org/10.5114/polp.2022.114682

Online publish date: 2022/03/23

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AMA

Filipiuk A, Kozakiewicz A, Kośmider K, Karska K, Lejman M, Zawitkowska J. Clinical manifestations, toxicities, and outcome of two children with Nijmegen breakage syndrome and lymphoid malignancies – case reports. Pediatria Polska - Polish Journal of Paediatrics. 2022;97(1):48-52. doi:10.5114/polp.2022.114682.

APA

Filipiuk, A., Kozakiewicz, A., Kośmider, K., Karska, K., Lejman, M.,  & Zawitkowska, J. (2022). Clinical manifestations, toxicities, and outcome of two children with Nijmegen breakage syndrome and lymphoid malignancies – case reports. Pediatria Polska - Polish Journal of Paediatrics, 97(1), 48-52. https://doi.org/10.5114/polp.2022.114682

Chicago

Filipiuk, Aleksandra, Agata Kozakiewicz, Kamil Kośmider, Katarzyna Karska, Monika Lejman,  and Joanna Zawitkowska. 2022. "Clinical manifestations, toxicities, and outcome of two children with Nijmegen breakage syndrome and lymphoid malignancies – case reports". Pediatria Polska - Polish Journal of Paediatrics 97 (1): 48-52. doi:10.5114/polp.2022.114682.

Harvard

Filipiuk, A., Kozakiewicz, A., Kośmider, K., Karska, K., Lejman, M.,  and Zawitkowska, J. (2022). Clinical manifestations, toxicities, and outcome of two children with Nijmegen breakage syndrome and lymphoid malignancies – case reports. Pediatria Polska - Polish Journal of Paediatrics, 97(1), pp.48-52. https://doi.org/10.5114/polp.2022.114682

MLA

Filipiuk, Aleksandra et al. "Clinical manifestations, toxicities, and outcome of two children with Nijmegen breakage syndrome and lymphoid malignancies – case reports." Pediatria Polska - Polish Journal of Paediatrics, vol. 97, no. 1, 2022, pp. 48-52. doi:10.5114/polp.2022.114682.

Vancouver

Filipiuk A, Kozakiewicz A, Kośmider K, Karska K, Lejman M, Zawitkowska J. Clinical manifestations, toxicities, and outcome of two children with Nijmegen breakage syndrome and lymphoid malignancies – case reports. Pediatria Polska - Polish Journal of Paediatrics. 2022;97(1):48-52. doi:10.5114/polp.2022.114682.

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Nijmegen breakage syndrome (NBS) is a rare disease with an autosomal recessive pattern of inheritance caused by mutations in the NBN gene.

We report 2 patients with NBS and T-cell lymphoblastic lymphoma (T-LBL), in whom diagnosis and therapy were difficult challenges. Both patients were diagnosed with NBS by mutation analysis of the NBN gene, which revealed homozygosity for a typical 5 base pair deletion (657del5). The lymph node biopsy revealed T-LBL, and both patients were treated according to EURO-LB 02. Complete remission was achieved in the first patient. In the second case, bone marrow relapse was observed, and the patient died due to disease progression.

In conclusion, patients with NBS should be closely monitored because of a higher frequency of lymphoma than in the general population. The described cases indicate the importance of identifying predictive markers of cancers and developing treatment regimens for patients with NBS and malignancies.

keywords:

Clinical manifestations, toxicities, and outcome of two children with Nijmegen breakage syndrome and lymphoid malignancies – case reports

Aleksandra Filipiuk 1 , Agata Kozakiewicz 1 , Kamil Kośmider 1 , Katarzyna Karska 2 , Monika Lejman 3 , Joanna Zawitkowska 2

lymphoma, antineoplastic agents, Nijmegen breakage syndrome, microcephaly

Aleksandra Filipiuk

¹

,

Agata Kozakiewicz

¹

,

Kamil Kośmider

¹

,

Katarzyna Karska

²

,

Monika Lejman

³

,

Joanna Zawitkowska

²