Hematopoietic Stem Cell Transplantation Positively Affects the Natural History of Cancer in Nijmegen Breakage Syndrome

Wolska-Kusnierz, Beata; Pastorczak, Agata; Fendler, Wojciech; Wakulinska, Anna; Dembowska-Baginska, Bozena; Heropolitanska-Pliszka, Edyta; Piatosa, Barbara; Pietrucha, Barbara; Kalwak, Krzysztof; Ussowicz, Marek; Pieczonka, Anna; Drabko, Katarzyna; Lejman, Monika; Koltan, Sylwia; Gozdzik, Jolanta; Styczynski, Jan; Fedorova, Alina; Miakova, Natalia; Deripapa, Elena; Kostyuchenko, Larysa; Krenova, Zdenka; Hlavackova, Eva; Gennery, Andrew R.; Sykora, Karl-Walter; Ghosh, Sujal; Albert, Michael H.; Balashov, Dmitry; Eapen, Mary; Svec, Peter; Seidel, Markus G.; Kilic, Sara S.; Tomaszewska, Agnieszka; Wiesik-Szewczyk, Ewa; Kreins, Alexandra; Greil, Johann; Buechner, Jochen; Lund, Bendik; Gregorek, Hanna; Chrzanowska, Krystyna und Mlynarski, Wojciech (2021): Hematopoietic Stem Cell Transplantation Positively Affects the Natural History of Cancer in Nijmegen Breakage Syndrome. In: Clinical Cancer Research, Bd. 27, Nr. 2: S. 575-584

Abstract

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 = 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 < 10(-5)). 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 = 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.

• Dokumententyp: Zeitschriftenartikel
• Fakultät: Medizin
• Themengebiete: 600 Technik, Medizin, angewandte Wissenschaften > 610 Medizin und Gesundheit
• ISSN: 1078-0432
• Sprache: Englisch