Somatic <i>CEBPA</i> Mutations Are a Frequent Second Event in Families With Germline <i>CEBPA</i> Mutations and Familial Acute Myeloid Leukemia

Abstract

This study shows, for the first time to our knowledge, that germline CEBPA mutations are frequently observed among AML patients with CEBPA mutations. Including the families with germline CEBPA mutations reported previously, additional somatic CEBPA mutations represent a frequent second event in AML with germline CEBPA mutations. Our data strongly indicate that germline CEBPA mutations predispose to AML and that additional somatic CEBPA mutations contribute to the development of the disease.