Cumulative Hematologic Morbidity and Outcomes in Shwachman–Diamond Syndrome

Kasiani C. Myers; Jean Donadieu; Benjamin Goldberg; Manon Delafoy; Cornelia Zeidler; Sabine Mellor-Heineke; Yang Wan; Xiaofan Zhu; Simone Cesaro; Marco Cipolli; 渡邊 健一郎; Lucy C. Fox; Caroline Rutten; TW Kuijpers; Antonis Kattamis; Polyxeni Delaporta; Ulla Wartiovaara-Kautto; Outi Kilpivaara; Alison A. Bertuch; Candelaria O’Farrell; Melanie Cotter; Eoghan Dunlea; Christopher R. Reilly; Alan J. Warren; Amy Geddis; Edie Weller; Akiko Shimamura

doi:10.1056/nejmc2605001

Key Points

To characterize the cumulative incidence of hematologic morbidity, progression to malignancy, and long-term clinical outcomes in individuals with Shwachman–Diamond syndrome.
Longitudinal cohort evaluation analyzing hematologic trajectories and complications in patients diagnosed with Shwachman–Diamond syndrome.
Systematic assessment of bone marrow dysfunction, peripheral cytopenias, and malignant transformation across extended follow-up.
Cumulative incidence of hematologic abnormalities escalates over time, with persistent neutropenia and progressive marrow failure affecting a substantial proportion of patients.
Clonal evolution to myelodysplastic syndrome and acute myeloid leukemia represents the predominant driver of hematologic mortality and adverse outcomes.

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Implication

Cohort study reveals cumulative hematologic morbidity and leukemia risks in Shwachman–Diamond syndrome, highlighting the necessity of lifelong bone marrow surveillance.

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Myers et al. (2026) studied this question.

synapsesocial.com/papers/6ab53eb891936109271a2c0c https://doi.org/10.1056/nejmc2605001

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Cumulative Hematologic Morbidity and Outcomes in Shwachman–Diamond Syndrome

Key Points

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Implication

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Cumulative Hematologic Morbidity and Outcomes in Shwachman–Diamond Syndrome

Key Points

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Implication

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