Online first
Review paper
Published online: 2025-01-22
When you can’t see the wood for the trees — rare and not so rare malignancies in Nijmegen breakage syndrome: a review
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Abstract
Introduction and purpose. Nijmegen breakage syndrome (NBS) is a rare genetic disease with numerous complications during its course. Patients with NBS present such clinical features as musculoskeletal abnormalities, cardiovascular impairments, microcephaly, as well as recurrent respiratory infections, and a significantly high risk of developing malignant tumors. This article aims to highlight the importance of creating guidelines and a more standardized approach to cancer prevention in NBS patients.
Malignancies in the Nijmegen syndrome. Individuals affected by NBS show a strong predisposition to develop malignancies, especially at an early age. The most frequent are those of hematopoietic origin, but solid tumors (also rare ones like medulloblastoma and rhabdomyosarcoma) are also common, as are precancerous conditions.
Conclusions. As NBS patients are prone to show the symptoms of not only lymphoid malignancies but also solid tumors and immunodeficiency-related diseases, a holistic preventive approach is strongly advised. The screening and treatment for cancer can be extremely difficult due to the radio- and chemosensitivity of individuals with NBS, followed by more common therapy-related side effects.
Keywords: Nijmegen breakage syndromeNBScancerimmunodeficiencymalignancies
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