Abstract • 89
Nijmegen Breakage Syndrome is a rare immunodeficiency, belonging to the DNA repair syndromes. The characteristics are microcephaly, short stature, immunodeficiency, chromosomal instability with rearrangements of chromosomes 7 and/or 14, X-ray hypersensitivity and predisposition to cancer. Now some 60 patients have been recognized. Of them 22 patients, varying in age from 1 to 22 years, developed a malignancy. A lymphoma was found in 16 patients. The majority of these are B-cell lymphoma's. The other six had leucaemia (3), glioma (1), medulloblastoma (1) and rhabdomyosarcoma (1).
Malignancy has been found in both patients with a mutation of the "common founder" type (a truncating 5 bp deletion, 667-661delACAAA) and patients with other mutation in the NBS1 gene.
A proposal for a special scheme for treatment will be given.
Author information
Authors and Affiliations
Consortia
Rights and permissions
About this article
Cite this article
Weemaes, C., The NBS Study Group. Malignancy in Nbs Patients. Pediatr Res 45 (Suppl 5), 757 (1999). https://doi.org/10.1203/00006450-199905010-00119
Issue Date:
DOI: https://doi.org/10.1203/00006450-199905010-00119