Anna Pegoraro, Valentino Bezzerri, Gloria Tridello, Cecilia Brignole, Francesca Lucca, Emily Pintani, Cesare Danesino, Simone Cesaro, Francesca Fioredda, Marco Cipolli
Shwachman-Diamond syndrome (SDS) is one of the most common inherited bone marrow failure syndromes. SDS is characterized by hypocellular bone marrow, with a severe impairment of the myeloid lineage, resulting in neutropenia, thrombocytopenia, and, more rarely, anemia. Almost 15% of patients with SDS develop myelodysplastic syndrome or acute myeloid leukemia as early as childhood or young adulthood. Exocrine pancreatic insufficiency is another common feature of SDS. Almost all patients with SDS show failure to thrive, which is associated with skeletal abnormalities due to defective ossification...
April 5, 2024: Cancers