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. 2025 May 22;145(21):2528-2532.
doi: 10.1182/blood.2024026507.

Lymphoid malignancies in patients with Shwachman-Diamond syndrome

Helen D Reed  1 , Hyunwoo Do  2 , Edie Weller  2   3 , Marian H Harris  4 , Christopher R Reilly  5 , Harrison K Tsai  4 , Jason E Farrar  6   7 , Bonnie W Lau  8 , Lauren Pommert  9   10 , Christopher Gamper  11 , Ian Atkinson  1 , Katherine Coyne  1 , Margret Joos  1 , Sara Loveless  12 , Sarah Steltz  13 , Leah Cheng  13 , Maggie Malsch  14 , Kasiani Myers  9   15 , Akiko Shimamura  1
Affiliations

Lymphoid malignancies in patients with Shwachman-Diamond syndrome

Helen D Reed et al. Blood. .

Abstract

This study identified an increased risk of lymphoid malignancy in Shwachman-Diamond syndrome (SDS) with an observed risk 38-fold higher than expected based on population data. Increased toxicity was observed with standard therapies in patients with SDS.

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Conflict of interest statement

Conflict-of-interest disclosure: J.E.F. has received research funding from Novartis. B.W.L. has been employed at Johnson & Johnson. K.M. has received research funding from Elixirgen Therapeutics and Incyte. A.S. has been on an advisory committee for Novartis and has consulted for X4 Pharma and Fulcrum. The remaining authors declare no competing financial interests.

References

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