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Lookup NU author(s): Professor Andrew Gennery
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2020 American Association for Cancer Research.Purpose: Nijmegen breakage syndrome (NBS) is a DNA repair disorder with a high predisposition to hematologic malignancies. Experimental Design: We describe the natural history of NBS, including cancer incidence, risk of death, and the potential effectiveness of hematopoietic stem cell transplantation (HSCT) in preventing both pathologies: malignancy and immunodeficiency. Results: Among 241 patients with NBS enrolled in the study from 11 countries, 151 (63.0%) patients were diagnosed with cancer. Incidence rates for primary and secondary cancer, tumor characteristics, and risk factors affecting overall survival (OS) were estimated. The cumulative cancer incidence was 40.21% ± 3.5% and 77.78% ± 3.4% at 10 years and 20 years of follow-up, respectively. Most of the tumors n ¼ 95 (62.9%) were non-Hodgkin lymphomas. Overall, 20 (13.2%) secondary malignancies occurred at a median age of 18 (interquartile range, 13.7–21.5) years. The probability of 20-year overall survival (OS) for the whole cohort was 44.6% ± 4.5%. Patients who developed cancer had a shorter 20-year OS than those without malignancy (29.6% vs. 86.2%; P < 105). A total of 49 patients with NBS underwent HSCT, including 14 patients transplanted before malignancy. Patients with NBS with diagnosed cancer who received HSCT had higher 20-year OS than those who did not (42.7% vs. 30.3%; P ¼ 0.038, respectively). In the group of patients who underwent preemptive transplantation, only 1 patient developed cancer, which is 6.7 times lower as compared with nontransplanted patients [incidence rate ratio 0.149 (95% confidence interval, 0.138–0.162); P < 0.0001]. Conclusions: There is a beneficial effect of HSCT on the long-term survival of patients with NBS transplanted in their first complete remission of cancer.
Author(s): Wolska-Kusnierz B, Pastorczak A, Fendler W, Wakulinska A, Dembowska-Baginska B, Heropolitanska-Pliszka E, Piatosa B, Pietrucha B, Kalwak K, Ussowicz M, Pieczonka A, Drabko K, Lejman M, Koltan S, Gozdzik J, Styczynski J, Fedorova A, Miakova N, Deripapa E, Kostyuchenko L, Krenova Z, Hlavackova E, Gennery AR, Sykora K-W, Ghosh S, Albert MH, Balashov D, Eapen M, Svec P, Seidel MG, Kilic SS, Tomaszewska A, Wiesik-Szewczyk E, Kreins A, Greil J, Buechner J, Lund B, Gregorek H, Chrzanowska K, Mlynarski W
Publication type: Article
Publication status: Published
Journal: Clinical Cancer Research
Print publication date: 01/01/2021
Online publication date: 20/10/2020
Acceptance date: 16/10/2020
ISSN (print): 1078-0432
ISSN (electronic): 1557-3265
Publisher: American Association for Cancer Research Inc.
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