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Case Reports
. 2025 Jan 1;47(1):e74-e76.
doi: 10.1097/MPH.0000000000002965. Epub 2024 Nov 15.

Neuroblastoma Occurring in Nijmegen Breakage Syndrome

Marina Djurisic  1 , Adrijan Sarajlija  2   3 , Danijela Radivojevic  1 , Sanja Cirkovic  1 , Dragoljub Djokic  4 , Slavisa Djuricic  5   6 , Gordana Samardzija  5 , Srdjan Pasic  3   7
Affiliations
Case Reports

Neuroblastoma Occurring in Nijmegen Breakage Syndrome

Marina Djurisic et al. J Pediatr Hematol Oncol. .

Abstract

Nijmegen breakage syndrome (NBS) is a rare primary immunodeficiency disease due to a pathogenic variant in the NBN gene causing impaired DNA repair and increased predisposition for lymphoid malignancy. By contrast, solid tumors have been rarely reported. Neuroblastoma (NB) is a rare childhood solid tumor, associated with the worse outcome if MYCN oncogene is amplified. We describe 2 young pediatric patients with NBS who developed high-risk NB. The first patient died shortly after chemotherapy was introduced. The second patient successfully received modified chemotherapy resulting in clinical remission lasting 2 years after an initial diagnosis of NB.

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Conflict of interest statement

The authors declare no conflict of interest.

References

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