Inherited SAMD9/SAMD9L disorder: BMF and MDS predisposition

Recently, SAMD9 and SAMD9L germline mutations  have been implicated in bone marrow failure (BMF) and predisposition to MDS. Dr Marie Sébert (Hôpital St Louis, Paris, France) and colleagues analyzed a cohort of 22 patients with germline SAMD9 or SAMD9L mutations from sixteen families. Twenty patients had central cytopenia, with bone marrow dysplasia in eleven patients. Monosomy 7 occurred in ten patients, but most of them did not have additional cytogenetic lesions or excess of blasts. Blood counts improved spontaneously in eleven patients, and MDS and monosomy 7 disappeared in five patients. Sébert: “Patients may benefit from a careful watch-and-wait policy rather than upfront HSCT, even when presenting with dysplasia and monosomy 7, a practice-changing option that will have to be carefully evaluated.”

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Last Updated on Thursday 02 August 2018.