Treatment of Nijmegen Breakage Syndrome: Haematopoietic Stem Cell Transplantation in First Complete Remission
Clinical scenario
Nijmegen breakage syndrome (NBS) is a rare inherited chromosomal instability disorder carrying a markedly elevated lifetime risk of malignancy, particularly lymphoma and leukaemia. When malignancy occurs, the timing and method of definitive treatment require a carefully structured approach. Haematopoietic stem cell transplantation (HSCT) is the established intervention for eligible patients.
Treatment approach
Haematopoietic stem cell transplantation (HSCT) is recommended at a specific point in the disease course. A critical aspect of the protocol is the selection of the pre-transplant conditioning regimen — several distinct conditioning strategies exist for this population, and the choice between them depends on patient- and disease-specific factors outlined in the full protocol.
The complete regimen specifies which conditioning approaches apply, the criteria for selecting among them, and additional management considerations — all available via the link below.
References
- Transplantation in NBS patients is recommended in first complete remission (CR) of lymphoma or leukemia.
- There are myeloablative conditioning with alkylating agents or total body irradiation and reduced intensity conditioning (RIC) without alkylating agents and with fludarabine ≤ 150 mg/m2 and cyclophosphamide ≤ 40 mg/kg.
- Most patients received modified Fanconi RIC based on fludarabine, and cyclophosphamide with or without anti-thymocyte globulin therapy.
- Laberko et al. reported that a conditioning regimen with treosulfan 30 g/m2 demonstrated a low level of early transplanted-associated toxicity, and enhanced graft function with stable donor chimerism in comparison to regimen with busulfan.
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