Myers KC, Furutani E, Weller E, et al. - Researchers performed a multicentre, retrospective, cohort study in collaboration with the North American Shwachman-Diamond Syndrome Registry in order to study the clinical features and outcomes of patients with myelodysplastic syndrome or acute myeloid leukemia and Shwachman-Diamond syndrome, an inherited bone marrow failure disorder with high risk of developing myeloid malignancies. Medical records from 17 centers in the USA and Canada yielded data of 37 patients with Shwachman-Diamond syndrome and myelodysplastic syndrome or acute myeloid leukemia. For central pathology review, 27 patients had samples available and accordingly, these were reclassified (central diagnosis concurred with local in 15 [56%] cases); samples were not available for 10 patients and these were classified based on the local review data, and at this stage, one patient was excluded as not eligible. Of 36 included patients, 10 (28%) initially presented with acute myeloid leukaemia and 26 (72%) initially presented with myelodysplastic syndrome. Variable management and surveillance were reported in these patients. As per results, patients with Shwachman-Diamond syndrome and myelodysplastic syndrome or acute myeloid leukemia exhibit poor prognosis owing to both therapy-resistant disease and treatment-related toxicities. During a median follow-up of 4·9 years (IQR 3·9–8·4), patients with myelodysplastic syndrome exhibited median overall survival of 7·7 years (95% CI 0·8–not reached) and patients with acute myeloid leukemia had a median overall survival of 0·99 years (95% CI 0·2–2·4). For patients with leukaemia and patients with myelodysplastic syndrome, overall survival at 3 years were 11% (95% CI 1–39) and 51% (29–68) respectively.