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. 2024 Aug 19.
doi: 10.1111/bjh.19691. Online ahead of print.

Long-term outcome after allogeneic stem cell transplantation for GATA2 deficiency: An analysis of 67 adults and children from France and Belgium

Flore Sicre de Fontbrune  1 , Florian Chevillon  2 , Mony Fahd  3 , Kristell Desseaux  4 , Xavier Poiré  5 , Edouard Forcade  6 , Arthur Sterin  7 , Bénédicte Neven  8 , Virginie Gandemer  9 , Sylvain Thepot  10 , Alice Garnier  11 , Bruno Lioure  12 , Ambroise Marcais  13 , Stephanie Nguyen-Quoc  14 , Suzanne Tavitian  15 , Laure Vincent  16 , Jean Donadieu  17   18 , Matthieu Resche Riggon  4 , Sylvie Chevret  4 , Marlene Pasquet  19 , Regis Peffault de Latour  1
Affiliations

Long-term outcome after allogeneic stem cell transplantation for GATA2 deficiency: An analysis of 67 adults and children from France and Belgium

Flore Sicre de Fontbrune et al. Br J Haematol. .

Abstract

Modalities and timing of haematopoietic stem cell transplant (HSCT) in patients with GATA2 deficiency are still subject to debate. On June 2022, 67 patients (median age 20.6 years) underwent a first allogeneic HSCT among 21 centres. Indications for HSCT were myelodysplastic syndrome (MDS) ≤5% blasts ± immunodeficiency (66%), MDS >5% blasts (15%), acute myeloid leukaemia (19%). Conditioning regimen was myeloablative in 85% and anti-thymocyte globulins were used in 67%. The cumulative incidence (CInc) of acute graft versus host disease (GvHD) grade II-IV and III-IV at day 100 were 42% and 13%, and CInc of chronic and extensive chronic GvHD at 2 years were 42% and 23%. CInc of relapses was 3% and 11% at 1 and 5 years. Overall survival (OS) at 1 and 5 years was 83% and 72% (median follow-up 5.6 years). The factors associated with worse OS in multivariable analysis were the year of HSCT, a history of excess blasts before transplant and peripheral blood stem cell (PBSC) grafts. Age at HSCT, non-myeloablative conditioning and PBSC grafts were associated with increased non-relapse mortality. In conclusion, bone marrow monitoring to identify clonal evolution and perform HSCT before the appearance of excess blast is mandatory.

Keywords: GATA2; allogeneic; excess blasts; myeloid malignancies; relapse.

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References

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