期刊
FAMILIAL CANCER
卷 22, 期 3, 页码 331-339出版社
SPRINGER
DOI: 10.1007/s10689-023-00329-0
关键词
Acute myeloid leukemia; Hereditary; Germline; CEBPA; C-terminal
Acute myeloid leukemia with germline CEBPA mutation is a subtype with a favorable prognosis, usually involving N-terminus germline variant and C-terminus somatic variant. However, there are rare cases with CEBPA germline variant in the C-terminus and somatic variant in the N-terminus. This case report highlights the differences in clinical outcomes and lifetime penetrance between N- and C-terminal germline variants, providing important information for patient management.
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.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据