Department of Medicine, Division of Hematology, QEII Health Sciences Centre, Dalhousie University, Halifax, NS, Canada.
Division of Hematology, Nova Scotia Health, Dalhousie University, Room 427, Bethune Building, 1276 South Park Street, Halifax, NS, B3H 2Y9, Canada.
Fam Cancer. 2023 Jul;22(3):331-339. doi: 10.1007/s10689-023-00329-0. Epub 2023 Mar 6.
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.
伴胚系 CEBPA 突变的急性髓系白血病是一种预后良好的急性髓系白血病亚型。大多数报道的伴 CEBPA 胚系变异的急性髓系白血病病例涉及 N 端的胚系变异和 C 端的体细胞变异。只有少数报道的病例中，CEBPA 胚系变异位于 C 端，而体细胞变异位于 N 端。本病例报告及文献复习表明，虽然伴有 CEBPA N 端或 C 端胚系变异的急性髓系白血病在某些方面具有一定的相似性，如诊断时年龄不典型较小、频繁复发和总体预后良好，但也存在显著差异，如急性髓系白血病的终生外显率较低，胚系 C 端病例的复发时间较短。这些发现增加了关于伴胚系 CEBPA C 端变异的急性髓系白血病的自然史和临床结局的重要信息，这些发现应在患者及其家庭成员的管理中加以考虑。
