HSCT may lower leukemia risk in ELANE neutropenia: a before-after study from the French Severe Congenital Neutropenia Registry.
Journal
Bone marrow transplantation
ISSN: 1476-5365
Titre abrégé: Bone Marrow Transplant
Pays: England
ID NLM: 8702459
Informations de publication
Date de publication:
08 2020
08 2020
Historique:
received:
25
07
2019
accepted:
16
01
2020
revised:
28
11
2019
pubmed:
30
1
2020
medline:
22
6
2021
entrez:
30
1
2020
Statut:
ppublish
Résumé
ELANE neutropenia is associated with myelodysplasia and acute leukemia (MDS-AL), and severe infections. Because the MDS-AL risk has also been shown to be associated with exposure to GCSF, since 2005, in France, patients receiving high daily GCSF doses (>15 μg/kg/day) are eligible for HSCT, in addition to classic indications (MDS-AL or GCSF refractoriness). We analyzed the effect of this policy. Among 144 prospectively followed ELANE-neutropenia patients enrolled in the French Severe Congenital Neutropenia Registry, we defined two groups according to period: "before 2005" for those born before 2005 and followed until 31/12/2004 (1588 person-years); and "after 2005" comprised of those born after 2005 or born before 2005 but followed after 2005 until 31/03/2019 (1327 person-years). Sixteen of our cohort patients underwent HSCT (14 long-term survivors) and six developed MDS-ALs. Six leukemic transformations occurred in the before-2005 group and none after 2005 (respective frequencies 3.8 × 10
Identifiants
pubmed: 31992846
doi: 10.1038/s41409-020-0800-1
pii: 10.1038/s41409-020-0800-1
pmc: PMC7091645
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1614-1622Subventions
Organisme : NIAID NIH HHS
ID : R24 AI049393
Pays : United States
Références
Donadieu J, Beaupain B, Fenneteau O, Bellanne-Chantelot C. Congenital neutropenia in the era of genomics: classification, diagnosis, and natural history. Br J Haematol. 2017;179:557–74.
doi: 10.1111/bjh.14887
Bellanne-Chantelot C, Clauin S, Leblanc T, Cassinat B, Rodrigues-Lima F, Beaufils S, et al. Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register. Blood. 2004;103:4119–25.
doi: 10.1182/blood-2003-10-3518
Germeshausen M, Deerberg S, Peter Y, Reimer C, Kratz CP, Ballmaier M. The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia. Hum Mutat. 2013;34:905–14.
doi: 10.1002/humu.22308
Makaryan V, Zeidler C, Bolyard AA, Skokowa J, Rodger E, Kelley ML, et al. The diversity of mutations and clinical outcomes for ELANE-associated neutropenia. Curr Opin Hematol. 2015;22:3–11.
doi: 10.1097/MOH.0000000000000105
Ferry C, Ouachee M, Leblanc T, Michel G, Notz-Carrere A, Tabrizi R, et al. Hematopoietic stem cell transplantation in severe congenital neutropenia: experience of the French SCN register. Bone Marrow Transplant. 2005;35:45–50.
doi: 10.1038/sj.bmt.1704718
Fioredda F, Iacobelli S, van BA, Gaspar B, Ancliff P, Donadieu J, et al. Stem cell transplantation in severe congenital neutropenia: an analysis from the European Society for Blood and Marrow Transplantation. Blood. 2015;126:1885–92.
doi: 10.1182/blood-2015-02-628859
Zeidler C, Welte K, Barak Y, Barriga F, Bolyard AA, Boxer L, et al. Stem cell transplantation in patients with severe congenital neutropenia without evidence of leukemic transformation. Blood. 2000;95:1195–8.
pubmed: 10666190
Donadieu J, Leblanc T, Bader MB, Barkaoui M, Fenneteau O, Bertrand Y, 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.
pubmed: 15642668
Rosenberg PS, Alter BP, Bolyard AA, Bonilla MA, Boxer LA, Cham B, et al. The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy. Blood. 2006;107:4628–35.
doi: 10.1182/blood-2005-11-4370
Rappeport JM, Parkman R, Newburger P, Camitta BM, Chusid MJ. Correction of infantile agranulocytosis (Kostmann’s syndrome) by allogeneic bone marrow transplantation. Am J Med. 1980;68:605–9.
doi: 10.1016/0002-9343(80)90312-5
Markel MK, Haut PR, Renbarger JA, Robertson KA, Goebel WS. Unrelated cord blood transplantation for severe congenital neutropenia: report of two cases with very different transplant courses. Pediatr Transplant. 2008;12:896–901.
doi: 10.1111/j.1399-3046.2008.00951.x
Setty BA, Yeager ND, Bajwa RP. Heterozygous M1V variant of ELA-2 gene mutation associated with G-CSF refractory severe congenital neutropenia. Pediatr Blood Cancer. 2011;57:514–5.
doi: 10.1002/pbc.23018
Carlsson G, Winiarski J, Ljungman P, Ringden O, Mattsson J, Nordenskjold M, et al. Hematopoietic stem cell transplantation in severe congenital neutropenia. Pediatr Blood Cancer. 2011;56:444–51.
doi: 10.1002/pbc.22836
Kawaguch K, Matsubara K, Uchida Y, Saito A, Miyata K, Hasegawa D, et al. Successful treatment with allogenic hematopoietic stem cell transplantation of a severe congenital neutropenia patient harboring a novel ELANE mutation. Rinsho Ketsueki. 2014;55:2294–9.
pubmed: 25501410
Lebel A, Yacobovich J, Krasnov T, Koren A, Levin C, Kaplinsky C, et al. Genetic analysis and clinical picture of severe congenital neutropenia in Israel. Pediatr Blood Cancer. 2015;62:103–8.
doi: 10.1002/pbc.25251
Nino N, Kozaki A, Hasegawa D, Ueda G, Takahashi H, Miyata K, et al. Successful non-myeloablative allogenic bone marrow transplantation in a child with severe congenital neutropenia complicated by chronic pulmonary infection. Rinsho Ketsueki. 2016;57:742–7.
pubmed: 27384854
Hashem H, bu-Arja R, Auletta JJ, Rangarajan HG, Varga E, Rose MJ, et al. Successful second hematopoietic cell transplantation in severe congenital neutropenia. Pediatr. Transplant. 2018;22:e13078.
Okolo ON, Katsanis E, Yun S, Reveles CY, Anwer F. Allogeneic transplant in ELANE and MEFV mutation positive severe cyclic neutropenia: review of prognostic factors for secondary severe events. Case Rep Hematol. 2017;2017:5375793.
pubmed: 28197346
pmcid: 5286543
Donadieu J, Michel G, Merlin E, Bordigoni P, Monteux B, Beaupain B, et al. Hematopoietic stem cell transplantation for Shwachman-Diamond syndrome: experience of the French neutropenia registry. Bone Marrow Transplant. 2005;36:787–92.
doi: 10.1038/sj.bmt.1705141
Beaussant CS, Fenneteau O, Plouvier E, Rohrlich PS, Daltroff G, Plantier I, et al. Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry. Orphanet J Rare Dis. 2012;7:71.
doi: 10.1186/1750-1172-7-71
Desplantes C, Fremond M, Beaupain B, Harousseau J, Buzyn A, Pellier I, et al. Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French severe congenital neutropenia registry. Orphanet J Rare Dis. 2014;9:183.
doi: 10.1186/s13023-014-0183-8
Donadieu J, Fenneteau O, Beaupain B, Beaufils S, Bellanger F, Mahlaoui N, et al. Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome. Haematologica. 2012;97:1312–9.
doi: 10.3324/haematol.2011.057489
Donadieu J, Lamant M, Fieschi C, de Fontbrune FS, Caye A, Ouachee M, et al. Natural history of GATA2 deficiency in a survey of 79 French and Belgian patients. Haematologica. 2018;103:1278–87.
doi: 10.3324/haematol.2017.181909
Rigaud C, Lebre AS, Touraine R, Beaupain B, Ottolenghi C, Chabli A, et al. Natural history of Barth syndrome: a national cohort study of 22 patients. Orphanet J Rare Dis. 2013;8:70.
doi: 10.1186/1750-1172-8-70
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–24.
doi: 10.1038/gim.2015.30
Dong F, Dale DC, Bonilla MA, Freedman M, Fasth A, Neijens HJ, et al. Mutations in the granulocyte colony-stimulating factor receptor gene in patients with severe congenital neutropenia. Leukemia. 1997;11:120–5.
doi: 10.1038/sj.leu.2400537
Martin DO, Austin H. An exact method for meta-analysis of case-control and follow-up studies. Epidemiology. 2000;11:255–60.
doi: 10.1097/00001648-200005000-00005
Miettinen O. Estimability and estimation in case-referent studies. Am J Epidemiol. 1976;103:226–35.
doi: 10.1093/oxfordjournals.aje.a112220
Collet D. Modelling survival data in medical research. London: Chapman and Hall; 1994.
doi: 10.1007/978-1-4899-3115-3
Cassinat B, Bellanne-Chantelot C, Notz-Carrere A, Menot ML, Vaury C, Micheau M, et al. Screening for G-CSF receptor mutations in patients with secondary myeloid or lymphoid transformation of severe congenital neutropenia. A report from the French neutropenia register. Leukemia. 2004;18:1553–5.
doi: 10.1038/sj.leu.2403431
Horwitz M, Benson KF, Person RE, Aprikyan AG, Dale DC. Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis. Nat Genet. 1999;23:433–6.
doi: 10.1038/70544
Dale DC, Person RE, Bolyard AA, Aprikyan AG, Bos C, Bonilla MA, et al. Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. Blood. 2000;96:2317–22.
doi: 10.1182/blood.V96.7.2317
Rosenberg PS, Alter BP, Link DC, Stein S, Rodger E, Bolyard AA, et al. Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia. Br J Haematol. 2008;140:210–3.
pubmed: 18028488
Germeshausen M, Ballmaier M, Welte K. Incidence of CSF3R mutations in severe congenital neutropenia and relevance for leukemogenesis: Results of a long-term survey. Blood. 2007;109:93–9.
doi: 10.1182/blood-2006-02-004275
Beekman R, Valkhof MG, Sanders MA, van Strien PM, Haanstra JR, Broeders L, et al. Sequential gain of mutations in severe congenital neutropenia progressing to acute myeloid leukemia. Blood. 2012;119:5071–7.
doi: 10.1182/blood-2012-01-406116
Skokowa J, Steinemann D, Katsman-Kuipers JE, Zeidler C, Klimenkova O, Klimiankou M, et al. Cooperativity of RUNX1 and CSF3R mutations in severe congenital neutropenia: a unique pathway in myeloid leukemogenesis. Blood. 2014;123:2229–37.
doi: 10.1182/blood-2013-11-538025