Germline and Somatic Variants Co-Ocurrence Profile in Early Onset Adult Myelodysplastic Syndromes without a Preexisting Disorder
Blood(2021)
摘要
Introduction: De novo myelodysplastic syndromes (MDS) usually present in the elderly, within the context of the progressive acquisition of somatic mutations throughout the patient's life. On the other hand, MDS in children and younger adults are often associated with predisposing germline mutations. Early-onset MDS in adults (16-60 years old) accounts for »10% of all MDS cases. We aim to depict profiles of co-occurrence between germline and acquired variants in a Spanish multicenter cohort of patients with data from paired tumor-germinal whole exome sequencing (WES).
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关键词
early onset,co-ocurrence
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