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The common deletion 657del5 in the Nibrin gene is not a major risk factor for B or T cell non-Hodgkin lymphoma in a pediatric population

Leukemia volume 14, pages 1528–1529 (2000)Cite this article

Nijmegen breakage syndrome (NBS, MIM #251260), an autosomal recessive chromosome breakage disorder, is caused by mutations in the gene encoding Nibrin, a DNA double-strand repair protein, which is part of the RAD 50 protein complex.1 Patients are characterised by microcephalus and hypoplasia of the mandible resulting in a typical craniofacial dysmorphy with a ‘bird-like face’, growth retardation, pigment anomalies, mild to moderate mental retardation,2 and they suffer from humoral and cellular immunodeficiency. Lymphocytes are hypersensitive to irradiation and arrest preferentially in G2 phase. Chromosomal studies in NBS patients show somatic structural aberrations and multiple rearrangements, favouring chromosome 7 and chromosome 14. Subsequently, patients are predisposed to malignancies with a tendency to develop non-Hodgkin lymphomas (NHL) at a young age. To date, 6 truncating mutations in the Nibrin gene have been identified. Five mutations are private to single families only, but a single 5 bp deletion (657del5) in exon 6 is by far the most prevalent one.3 The predisposition of NBS patients to develop lymphoid malignancies at a young age raises the question whether heterozygosity for the common Nibrin gene mutation 657del5 might also play a role in the development NHL in otherwise unaffected children.

Our study was initiated by the case of a boy who developed a second B cell NHL. By clinical signs and cytogenetic findings we diagnosed NBS. The diagnosis was confirmed by cell cycle analysis, and identification of the homozygous deletion 657del5 by PCR of a 90 bp fragment, subsequent electrophoresis and direct sequencing. The primer sequences were as follows: 5′-TAA CAT AAT TAC CTG TTT GGC-3′ (sense), 5′-AAT GTT GAT CTG TCA GGA C-3′ (antisense). The annealing temperature was 58°C.

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  1. Department of Pediatric Haematology and Oncology, University Children's Hospital, Hamburg, Martinistr. 52, Hamburg, 20246, Germany

    J Rischewski, P v Bismarck, H Kabisch, G Janka-Schaub, T Obser & R Schneppenheim

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  1. J Rischewski
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  2. P v Bismarck
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Rischewski, J., v Bismarck, P., Kabisch, H. et al. The common deletion 657del5 in the Nibrin gene is not a major risk factor for B or T cell non-Hodgkin lymphoma in a pediatric population. Leukemia 14, 1528–1529 (2000). https://doi.org/10.1038/sj.leu.2401836

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