Of Gains and Losses: SAMD9/SAMD9L and Monosomy 7 in Myelodysplastic Syndrome

Germline gain-of function (GOF) SAMD9/SAMD9L mutations cause different syndromes with predisposition to myeloid neoplasms in the young. Primary somatic compensation mutations in the blood are very frequent in patients with germline GOF SAMD9/SAMD9L-related diseases.