Long-term Outcome After Allogeneic Hematopoietic Stem Cell Transplantation for Shwachman-Diamond Syndrome: a Retrospective Analysis and a Review of the Literature by the Severe Aplastic Anemia Working Party of the European Society for Blood And...

Overview

Journal Bone Marrow Transplant

Specialty General Surgery

Date 2020 Mar 24

PMID 32203264

Citations 14

Authors

Simone Cesaro

Marta Pillon

Martin Sauer

Frans Smiers

Maura Faraci

Cristina Diaz de Heredia

Robert Wynn

Johann Greil

Franco Locatelli

Paul Veys

Anne Uyttebroeck

Per Ljungman

Patrice Chevalier

Marc Ansari

Isabel Badell

Tayfun Gungor

Rahuman Salim

Johanna Tischer

Cristina Tecchio

Nigel Russell

Alicja Chybicka

Jan Styczynski

Gergely Krivan

Owen Smith

Jerry Stein

Boris Afanasyev

Cecile Pochon

Maria Cristina Menconi

Paul Bosman

Margherita Mauro

Gloria Tridello

Regis Peffault de Latour

Carlo Dufour

Affiliations

Soon will be listed here.

Abstract

Allogeneic hematopoietic stem cell transplantation (HSCT) is a curative procedure in patients with Shwachman-Diamond syndrome (SDS) with bone marrow abnormalities. The results of 74 patients with SDS (6 acute myeloid leukemia, 7 myelodysplastic syndrome, and 61 bone marrow failure) treated with HSCT between 1988 and 2016 are reported. The donor source was: 24% sibling, 8% parent, and 68% unrelated donor. The stem cell source was: 70% bone marrow, 19% peripheral blood stem cells, and 11% cord blood. The conditioning regimen was myeloablative in 54% and reduced intensity in 46%. Neutrophil engraftment was achieved in 84% of patients after a median time of 17.5 days. Graft failure occurred in 15% of HSCTs. Grades I-IV acute and chronic GVHD were observed in 55% and 20% of patients, respectively. After a median follow-up of 7.3 years (95% CI 4.8-10.2), 28 patients died for progression/relapse (7) or toxicity (21). The 5-year overall survival and nonrelapse mortality were 63.3% (95% CI 50.8-73.4) and 19.8% (95% CI 10.8-30.8), respectively. In conclusion, this is the largest series so far reported and confirms that HSCT is a suitable option for patients with SDS. Further efforts are needed to lower transplant-related toxicity and reduce graft failure.

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