Hematopoietic Stem Cell Transplantation Positively Affects the Natural History of Cancer in Nijmegen Breakage Syndrome.
Journal
Clinical cancer research : an official journal of the American Association for Cancer Research
ISSN: 1557-3265
Titre abrégé: Clin Cancer Res
Pays: United States
ID NLM: 9502500
Informations de publication
Date de publication:
15 01 2021
15 01 2021
Historique:
received:
03
07
2020
revised:
26
08
2020
accepted:
16
10
2020
pubmed:
22
10
2020
medline:
11
1
2022
entrez:
21
10
2020
Statut:
ppublish
Résumé
Nijmegen breakage syndrome (NBS) is a DNA repair disorder with a high predisposition to hematologic malignancies. 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. 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 There is a beneficial effect of HSCT on the long-term survival of patients with NBS transplanted in their first complete remission of cancer.
Identifiants
pubmed: 33082212
pii: 1078-0432.CCR-20-2574
doi: 10.1158/1078-0432.CCR-20-2574
doi:
Types de publication
Journal Article
Multicenter Study
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
575-584Informations de copyright
©2020 American Association for Cancer Research.
Références
Chrzanowska KH, Gregorek H, Dembowska-Bagińska B, Kalina MA, Digweed M. Nijmegen breakage syndrome (NBS). Orphanet J Rare Dis. 2012;7:13.
Varon R VC, Platzer M, Cerosaletti KM, Chrzanowska KH, Saar K, Beckmann G, et al. Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. Cell. 1998;93:467–76.
Varon R, Seemanova E, Chrzanowska K, Hnateyko O, Piekutowska-Abramczuk D, Krajewska-Walasek M, et al. Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations. Eur J Hum Genet. 2000;8:900–2.
de Miranda NF, Björkman A, Pan-Hammarström Q. DNA repair: the link between primary immunodeficiency and cancer. Ann N Y Acad Sci. 2011;1246:50–63.
Wolska-Kuśnierz B, Gregorek H, Chrzanowska K, Piątosa B, Pietrucha B, Heropolitańska-Pliszka E, et al. Nijmegen breakage syndrome: clinical and immunological features, long-term outcome and treatment options – a retrospective analysis. J Clin Immunol. 2015;35:538–49.
Bienemann K, Burkhardt B, Modlich S, Meyer U, Möricke A, Bienemann K, et al. Promising therapy results for lymphoid malignancies in children with chromosomal breakage syndromes (Ataxia teleangiectasia or Nijmegen-breakage syndrome): a retrospective survey. Br J Haematol. 2011;155:468–76.
Pastorczak A, Szczepanski T, Mlynarski W. Clinical course and therapeutic implications for lymphoid malignancies in Nijmegen breakage syndrome. Eur J Med Genet. 2016;59:126–32.
Dembowska-Baginska B, Perek D, Brozyna A, Wakulinska A, Olczak-Kowalczyk D, Gladkowska-Dura M, et al. Non-Hodgkin lymphoma (NHL) in children with Nijmegen breakage syndrome (NBS). Pediatr Blood Cancer. 2009;52:186–90.
Slack J, Albert MH, Balashov D, Belohradsky BH, Bertaina A, Bleesing J, et al. Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders. J Allergy Clin Immunol. 2018;141:322–8.e10.
Suarez F, Mahlaoui N, Canioni D, Andriamanga C, d’Enghien CD, Brousse N, et al. Incidence, presentation, and prognosis of malignancies in ataxia-telangiectasia: a report from the French National Registry of primary immune deficiencies. J Clin Oncol. 2015;33:202–8.
Rothblum-Oviatt C, Wright J, Lefton-Greif MA, McGrath-Morrow SA, Crawford TO, Lederman HM. Ataxia telangiectasia: a review. Orphanet J Rare Dis. 2016;11:159.
Achatz MI, Porter CC, Brugières L, Druker H, Frebourg T, Foulkes WD, et al. Cancer screening recommendations and clinical management of inherited gastrointestinal cancer syndromes in childhood. Clin Cancer Res. 2017;23:e107–e14.
Ripperger T, Schlegelberger B. Acute lymphoblastic leukemia and lymphoma in the context of constitutional mismatch repair deficiency syndrome. Eur J Med Genet. 2016;59:133–42.
Cavaciuti E, Laugé A, Janin N, Ossian K, Hall J, Stoppa-Lyonnet D, et al. Cancer risk according to type and location of ATM mutation in ataxia-telangiectasia families. Genes Chromosomes Cancer. 2005;42:1–9.
Gładkowska-Dura M, Dzierżanowska-Fangrat K, Dura W, van Krieken J, Chrzanowska K, van Dongen J, et al. Unique morphological spectrum of lymphomas in Nijmegen breakage syndrome (NBS) patients with high frequency of consecutive lymphoma formation. J Pathol. 2008;216:337–44.
Habib R, Kim R, Neitzel H, Demuth I, Chrzanowska K, Seemanova E, et al. Telomere attrition and dysfunction: a potential trigger of the progeroid phenotype in nijmegen breakage syndrome. Aging. 2020;12:12342–75.
Li X, Leteurtre F, Rocha V, Guardiola P, Berger R, Daniel M-T, et al. Abnormal telomere metabolism in Fanconi’s anaemia correlates with genomic instability and the probability of developing severe aplastic anaemia. Br J Haematol. 2003;120:836–45.
Jones CH, Pepper C, Baird DM. Telomere dysfunction and its role in haematological cancer. Br J Haematol. 2012;156:573–87.
Mellgren K, Attarbaschi A, Abla O, Alexander S, Bomken S, Bubanska E, et al. Non-anaplastic peripheral T cell lymphoma in children and adolescents—an international review of 143 cases. Ann Hematol. 2016;95:1295–305.
Ratnaparkhe M, Hlevnjak M, Kolb T, Jauch A, Maass KK, Devens F, et al. Genomic profiling of acute lymphoblastic leukemia in ataxia telangiectasia patients reveals tight link between ATM mutations and chromothripsis. Leukemia. 2017;31:2048–56.
Albert MH, Gennery AR, Greil J, Cale CM, Kalwak K, Kondratenko I, et al. Successful SCT for Nijmegen breakage syndrome. Bone Marrow Transplant. 2009;45:622–6.
Fok WC, Shukla S, Vessoni AT, Brenner KA, Parker R, Sturgeon CM, et al. Posttranscriptional modulation of TERC by PAPD5 inhibition rescues hematopoietic development in dyskeratosis congenita. Blood. 2019;133:1308–12.
Cunniff C, Bassetti JA, Ellis NA. Bloom’s syndrome: clinical spectrum, molecular pathogenesis, and cancer predisposition. Mol Syndromol. 2017;8:4–23.
Morton LM, Onel K, Curtis RE, Hungate EA, Armstrong GT. The rising incidence of second cancers: patterns of occurrence and identification of risk factors for children and adults. Am Soc Clin Oncol Educ Book. 2014;e57–67.
Dierickx D, Habermann TM. Post-transplantation lymphoproliferative disorders in adults. N Engl J Med. 2018;378:549–62.
Bierings M, Bonfim C, Peffault De Latour R, Aljurf M, Mehta PA, Knol C, et al. Transplant results in adults with Fanconi anaemia. Br J Haematol. 2018;180:100–9.