ELANE neutropenia and solid tumors: Four cases from the French severe chronic neutropenia registry.
ELANE neutropenia
SCN
registry
solid tumor
Journal
Pediatric blood & cancer
ISSN: 1545-5017
Titre abrégé: Pediatr Blood Cancer
Pays: United States
ID NLM: 101186624
Informations de publication
Date de publication:
11 2022
11 2022
Historique:
revised:
20
07
2022
received:
31
05
2022
accepted:
21
07
2022
pubmed:
16
8
2022
medline:
1
10
2022
entrez:
15
8
2022
Statut:
ppublish
Résumé
Neutropenia related to ELANE gene mutations predisposes patients to infection and leukemia/myelodysplasia, but little is known about the predisposition to cancer. Among a cohort of 147 patients, we identified four with malignant solid tumors (papillary thyroid cancer, anal squamous cell cancer, papillary renal cell carcinoma, and adrenocortical carcinoma), all aged 25-50 years. Three occurred with cyclic neutropenia, and one occurred with severe chronic neutropenia. Previous radiotherapy was identified as a risk factor in one patient. No genetic predisposition was identified in the three other patients.
Substances chimiques
Leukocyte Elastase
EC 3.4.21.37
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
e29923Informations de copyright
© 2022 The Authors. Pediatric Blood & Cancer published by Wiley Periodicals LLC.
Références
Dale DC, Person RE, Bolyard AA, et al. Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. Blood. 2000;96:2317-2322.
Horwitz M, Benson KF, Person RE, et al. Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis. Nat Genet. 1999;23:433-436.
Rotulo GA, Plat G, Beaupain B, et al. Recurrent bacterial infections, but not fungal infections, characterise patients with ELANE-related neutropenia: a French Severe Chronic Neutropenia Registry study. Br J Haematol. 2021;194:908-920.
Rotulo GA, Beaupain B, Rialland F, et al. HSCT may lower leukemia risk in ELANE neutropenia: a before-after study from the French Severe Congenital Neutropenia Registry. Bone Marrow Transplant. 2020;55:1614-1622.
Germeshausen M, Deerberg S, Peter Y, et al. The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia. Hum Mutat. 2013;34:905-914.
Makaryan V, Zeidler C, Bolyard AA, et al. The diversity of mutations and clinical outcomes for ELANE-associated neutropenia. Curr Opin Hematol. 2015;22:3-11.
Dale DC, Bolyard AA, Shannon JA, et al. Outcomes for patients with severe chronic neutropenia treated with granulocyte colony-stimulating factor. Blood Adv. 2022;6:3861-3869.
Donadieu J, Leblanc T, Bader MB, et al. Analysis of risk factors for myelodysplasias, leukemias and death from infection among patients with congenital neutropenia. Experience of the French Severe Chronic Neutropenia Study Group. Haematologica. 2005;90:45-53.
Rosenberg PS, Alter BP, Link DC, et al. Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia. Br J Haematol. 2008;140:210-213.
Beekman R, Valkhof MG, Sanders MA, et al. Sequential gain of mutations in severe congenital neutropenia progressing to acute myeloid leukemia. Blood. 2012;119:5071-5077.
Skokowa J, Steinemann D, Katsman-Kuipers JE, et al. Cooperativity of RUNX1 and CSF3R mutations in severe congenital neutropenia: a unique pathway in myeloid leukemogenesis. Blood. 2014;123:2229-2237.
Korkmaz B, Horwitz MS, Jenne DE, Gauthier F. Neutrophil elastase, proteinase 3, and cathepsin G as therapeutic targets in human diseases. Pharmacol Rev. 2010;62:726-759.
Garg B, Mehta HM, Wang B, et al. Inducible expression of a disease-associated ELANE mutation impairs granulocytic differentiation, without eliciting an unfolded protein response. J Biol Chem. 2020;295:7492-7500.
Sun Z, Yang P. Role of imbalance between neutrophil elastase and alpha 1-antitrypsin in cancer development and progression. Lancet Oncol. 2004;5:182-190.
Cui C, Chakraborty K, Tang XA, et al. Neutrophil elastase selectively kills cancer cells and attenuates tumorigenesis. Cell. 2021;184:3163-3177.
Deryugina E, Carre A, Ardi V, et al. Neutrophil elastase facilitates tumor cell intravasation and early metastatic events. iScience. 2020;23:101799.
Yang S, Chen L, Chan DW, et al. Protein signatures of molecular pathways in non-small cell lung carcinoma (NSCLC): comparison of glycoproteomics and global proteomics. Clin Proteomics. 2017;14:31.
Lerman I, Garcia-Hernandez ML, Rangel-Moreno J, et al. Infiltrating myeloid cells exert protumorigenic actions via neutrophil elastase. Mol Cancer Res. 2017;15:1138-1152.
Devoogdt N, Revets H, Ghassabeh GH, De BP. Secretory leukocyte protease inhibitor in cancer development. Ann N Y Acad Sci. 2004;1028:380-389.
Nugteren S, Samsom JN. Secretory leukocyte protease inhibitor (SLPI) in mucosal tissues: protects against inflammation, but promotes cancer. Cytokine Growth Factor Rev. 2021;59:22-35.