INTRODUCTION
Shwachman–Diamond syndrome (SDS; OMIM 260400) is a rare
autosomal-recessive multisystem disorder characterized by exocrine
pancreatic dysfunction and neutropenia.1, 2 It is
mostly caused by biallelic germline variants in the
Shwachman–Bodian–Diamond syndrome (SBDS )
gene.3 The disease’s natural evolution is
characterized by a long phase of mild neutropenia, which can evolve into
aplastic anemia, myelodysplastic syndrome (MDS) and/or acute myeloid
leukemia (AML) (∼35% by 30 years of age).2, 4 In
addition, results of a recent study emphasized the relationship between
tumor protein 53 (TP53 ) mutations and malignant hemopathies in
SDS.5 Solid tumors have rarely been reported in SDS.
Only four have been published so far: ovarian cancer,6breast ductal adenocarcinoma,7dermatofibrosarcoma8and pancreatic
adenocarcinoma9(Table 1). Moreover, to date, no cohort
study has estimated the solid-tumor rate or identified risk factors.
That context incited us to report the French Severe Chronic Neutropenia
Registry’s experience.