Acute myeloid leukemia with germline CEBPA mutation is a subtype of acute myeloid leukemia that is associated with a favorable prognosis. Most of the reported cases of acute myeloid leukemia with CEBPA germline variants involve a germline variant in the N-terminus and a somatic variant in the C-terminus. There are only a few reported cases where the CEBPA germline variant has been identified in the C-terminus and the somatic variant in the N-terminus. This case report and review of the literature illustrates that, although acute myeloid leukemia with CEBPA N- or C-terminal germline variants have certain similarities such as atypically young age at diagnosis, frequent relapse, and favourable overall prognosis, there are also significant differences such as lower life-time penetrance of acute myeloid leukemia and shorter time to relapse for germline C-terminal cases. These findings add important information on the natural history and clinical outcomes of acute myeloid leukemia with germline CEBPA C-terminal variants and these findings should be considered in the management of patients and their family members.

具有种系CEBPA突变的急性髓性白血病是急性髓性白血病的一种亚型，与良好的预后相关。大多数报告的具有CEBPA种系变异的急性髓性白血病病例涉及 N 末端的种系变异和 C 末端的体细胞变异。只有少数报道的病例在 C 端发现了CEBPA种系变异，在 N 端发现了体细胞变异。本病例报告和文献复习表明，尽管伴有CEBPA 的急性髓性白血病N端或C端胚系变异具有一定的相似性，如诊断年龄不典型、复发频繁、总体预后良好，也有显着差异，如急性髓性白血病的外显率较低、胚系复发时间较短C端案例。这些发现增加了关于具有种系CEBPA C 末端变异的急性髓性白血病的自然病程和临床结果的重要信息，在患者及其家庭成员的管理中应考虑这些发现。