Bernard Soulier syndrome (BSS) is a severe bleeding disorder with moderate to severe thrombocytopenia, giant platelets, and platelet dysfunction, caused by biallelic mutations in GP1BA, GP1BB, or GP9 genes. Lordier and colleagues generated and analyzed an induced pluripotent stem cell monoallelic BSS model derived from a patient with a new heterozygous mutation, resulting in moderate macrothrombocytopenia. Their findings indicate that monoallelic BSS is attributable to a defect in the late stages of megakaryopoiesis and suggest a distinct molecular mechanism in biallelic cases.

Hypomethylating agents do not elicit responses in at least half of patients with high-risk myelodysplastic syndrome (MDS). Bouligny and colleagues conducted a phase II trial involving previously untreated MDS patients who received azacitidine-ipilimumab, azacitidine-nivolumab, or azacitidine-ipilimumab-nivolumab. Results show that these combinations had modest activity in MDS and that the triplet approach failed to improve overall survival and was associated with increased toxicity.