Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations.
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Leiding Jennifer W, Okada Satoshi, Hagin David, Abinun Mario, Shcherbina Anna, Balashov Dmitry N, Kim Vy H D, Ovadia Adi, Guthery Stephen L, Pulsipher Michael, Lilic Desa, Devlin Lisa A, Christie Sharon, Depner Mark, Fuchs Sebastian, van Royen-Kerkhof Annet, Lindemans Caroline, Petrovic Aleksandra, Sullivan Kathleen E, Bunin Nancy, Kilic Sara Sebnem, Arpaci Fikret, Calle-Martin Oscar de la, Martinez-Martinez Laura, Aldave Juan Carlos, Kobayashi Masao, Ohkawa Teppei, Imai Kohsuke, Iguchi Akihiro, Roifman Chaim M, Gennery Andrew R, Slatter Mary, Ochs Hans D, Morio Tomohiro, Torgerson Troy R, Inborn Errors Working Party of the European Society for Blood and Marrow Transplantation and the Primary Immune Deficiency Treatment Consortium
Аннотация
OBJECTIVE: We sought to aggregate the worldwide experience of HSCT in patients with GOF-STAT1 mutations and to assess outcomes, including donor engraftment, overall survival, graft-versus-host disease, and transplant-related complications.
METHODS: Data were collected from an international cohort of 15 patients with GOF-STAT1 mutations who had undergone HSCT using a variety of conditioning regimens and donor sources. Retrospective data collection allowed the outcome of transplantation to be assessed. In vitro functional testing was performed to confirm that each of the identified STAT1 variants was in fact a GOF mutation.
RESULTS: Primary donor engraftment in this cohort of 15 patients with GOF-STAT1 mutations was 74%, and overall survival was only 40%. Secondary graft failure was common (50%), and posttransplantation event-free survival was poor (10% by 100 days). A subset of patients had hemophagocytic lymphohistiocytosis before transplant, contributing to their poor outcomes.
CONCLUSION: Our data indicate that HSCT for patients with GOF-STAT1 mutations is curative but has significant risk of secondary graft failure and death.