Nijmegen Breakage Syndrome Guidelines

Updated: Sep 16, 2022
  • Author: Krystyna H Chrzanowska, MD, PhD; Chief Editor: William D James, MD  more...
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Guidelines Summary

In April 2022, experts collaborating within the LEGEND COST Action and Host Genomic Variation I-BFM Study Group published consensus recommendations for the clinical management of hematologic malignancies in patients with DNA double-stranded breaks disorders, including Nijmegen breakage syndrome (NBS). [2] A summary of recommendations follows. Full recommendations are available here.

All patients with NBS should have IgG, IgM and IgA levels assessed with lymphocyte differential counts at the time of malignancy diagnosis.

Antibiotic prophylaxis should be applied to all patients with NBS during hematological malignancy treatment. Additionally, prophylaxis against encapsulated pathogens (e.g., Hemophilus influenza, Streptococcus pneumoniae) should be administered during treatment to all patients affected by at least 1 life-threatening pulmonary bacterial infection. 

If possible, pulmonary function tests should be performed before treatment of hematological malignancies, during therapy, and at the conclusion of treatment. In case of pulmonary deterioration during oncological treatment, patients should promptly receive intensive physiotherapy and antibiotics.

Considering progressive neurologic deterioration in patients with NBS, caution should be observed when using immunochemotherapeutic agents with neurotoxic side effects. 

Children with NBS and leukemia/lymphoma should receive curative therapy, even in the presence of advanced cancer, if this is in accordance with patient and family wishes and the patient's clinical condition.

For patients with NBS, chemotherapy treatment should be initiated at ≥80% of the standard dose (SD). Delays between courses should be minimized.

Radiotherapy leads to extreme toxicity in patients with NBS and should be omitted from any treatment plan.

Careful hydration and uroprotection are recommended during cyclophosphamide/iphosphamide therapy for all patients with NBS.

Since patients with NBS have a high risk of secondary cancer, each patient should be actively followed-up in a specialist pediatric oncology center.