Hematopoietic stem cell transplantation in children and adolescents with GATA2-related myelodysplastic syndrome

被引：30

作者：

Bortnick, Rachel ^{[1
,25
]}

Wlodarski, Marcin ^{[1
,2
]}

de Haas, Valerie ^{[3
]}

De Moerloose, Barbara ^{[4
]}

Dworzak, Michael ^{[5
]}

Hasle, Henrik ^{[6
]}

Masetti, Riccardo ^{[7
]}

Stary, Jan ^{[8
,9
]}

Turkiewicz, Dominik ^{[10
]}

Ussowicz, Marek ^{[11
]}

Kozyra, Emilia ^{[1
]}

Albert, Michael ^{[12
]}

Bader, Peter ^{[13
]}

Bordon, Victoria ^{[4
]}

Cario, Gunnar ^{[14
,15
]}

Beier, Rita ^{[16
]}

Schulte, Johannes ^{[17
]}

Bresters, Dorine ^{[18
]}

Muller, Ingo ^{[19
]}

Pichler, Herbert ^{[5
]}

Sedlacek, Petr ^{[8
,9
]}

Sauer, Martin G. ^{[20
]}

Zecca, Marco ^{[21
]}

Goehring, Gudrun ^{[22
]}

Yoshimi, Ayami ^{[1
]}

Noellke, Peter ^{[1
]}

Erlacher, Miriam ^{[1
,23
]}

Locatelli, Franco ^{[24
]}

Niemeyer, Charlotte M. ^{[1
,23
]}

Strahm, Brigitte ^{[1
]}

机构：

[1] Univ Freiburg, Fac Med, Med Ctr, Div Pediat Hematol & Oncol,Dept Pediat & Adolesce, Freiburg, Germany

[2] St Jude Childrens Res Hosp, Dept Hematol, 332 N Lauderdale St, Memphis, TN 38105 USA

[3] Princess Maxima Ctr, Diagnost Lab, DCOG Lab, Utrecht, Netherlands

[4] Ghent Univ Hosp, Dept Pediat Hematol Oncol & Stem Cell Transplanta, Ghent, Belgium

[5] Med Univ Vienna, Dept Pediat, St Anna Childrens Hosp, Vienna, Austria

[6] Aarhus Univ Hosp Skejby, Dept Pediat, Aarhus, Denmark

[7] Univ Bologna, Dept Pediat Oncol & Hematol, Bologna, Italy

[8] Charles Univ Prague, Dept Pediat Hematol & Oncol, Prague, Czech Republic

[9] Univ Hosp Motol, Prague, Czech Republic

[10] Skane Univ Hosp, Dept Pediat Oncol Hematol, Lund, Sweden

[11] Wroclaw Med Univ, Dept Bone Marrow Transplantat Oncol & Hematol, Wroclaw, Poland

[12] LMU, Dr von Hauner Childrens Hosp, Univ Hosp, Dept Pediat, Munich, Germany

[13] Univ Hosp Frankfurt, Dept Children & Adolescents, Div Stem Cell Transplantat & Immunol, Frankfurt, Germany

[14] Christian Albrechts Univ Kiel, Dept Pediat, Kiel, Germany

[15] Univ Med Ctr Schleswig Holstein, Kiel, Germany

[16] Univ Hosp Essen, Dept Pediat & Adolescent Med, Div Pediat Hematol & Oncol, Essen, Germany

[17] Charite Univ Med Berlin, Dept Pediat Oncol Hematol & Stem Cell Transplanta, Berlin, Germany

[18] Princess Maxima Ctr Pediat Oncol, Utrecht, Netherlands

[19] Univ Med Ctr Hamburg Eppendorf, Dept Pediat Hematol & Oncol, Hamburg, Germany

[20] Hannover Med Sch, Pediat Hematol & Oncol, Hannover, Germany

[21] Fdn IRCCS Policlin San Matteo, Pediat Hematol Oncol, Pavia, Italy

[22] Hannover Med Sch, Dept Human Genet, Hannover, Germany

[23] German Canc Consortium DKTK, Freiburg, Germany

[24] Univ Rome, IRCCS Osped Pediatr Bambino Gesu, Dept Pediat Hematol & Oncol, Rome, Italy

[25] Paracelsus Med Univ, Univ Hosp Salzburg, Dept Pediat, Salzburg, Austria

来源：

BONE MARROW TRANSPLANTATION | 2021年 / 56卷 / 11期

关键词：

GATA2; DEFICIENCY; CUMULATIVE INCIDENCE; PEDIATRIC-PATIENTS; MUTATIONS; FAILURE;

D O I：

10.1038/s41409-021-01374-y

中图分类号：

Q6 [生物物理学];

学科分类号：

071011 ;

摘要：

GATA2 deficiency is a heterogeneous multi-system disorder characterized by a high risk of developing myelodysplastic syndrome (MDS) and myeloid leukemia. We analyzed the outcome of 65 patients reported to the registry of the European Working Group (EWOG) of MDS in childhood carrying a germline GATA2 mutation (GATA2(mut)) who had undergone hematopoietic stem cell transplantation (HSCT). At 5 years the probability of overall survival and disease-free survival (DFS) was 75% and 70%, respectively. Non-relapse mortality and relapse equally contributed to treatment failure. There was no evidence of increased incidence of graft-versus-host-disease or excessive rates of infections or organ toxicities. Advanced disease and monosomy 7 (-7) were associated with worse outcome. Patients with refractory cytopenia of childhood (RCC) and normal karyotype showed an excellent outcome (DFS 90%) compared to RCC and -7 (DFS 67%). Comparing outcome of GATA2(mut) with GATA2(wt) patients, there was no difference in DFS in patients with RCC and normal karyotype. The same was true for patients with -7 across morphological subtypes. We demonstrate that HSCT outcome is independent of GATA2 germline mutations in pediatric MDS suggesting the application of standard MDS algorithms and protocols. Our data support considering HSCT early in the course of GATA2 deficiency in young individuals.

引用

页码：2732 / 2741

页数：10

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