T618I 突变的慢性粒单核细胞白血病：一种具有独特突变谱的增殖亚型。
T618I mutated chronic myelomonocytic leukemia: A proliferative subtype with a distinct mutational profile.
作者信息
Kwon Adelaide, Ibrahim Ibrahim, Le Tri, Jaso Jesse Manuel, Weinberg Olga, Fuda Franklin, Chen Weina
机构信息
Medical School, University of Texas Southwestern Medical Center at Dallas, TX, USA.
Departments of Internal Medicine/Division of Hematology and Oncology, University of Texas Southwestern Medical Center at Dallas, TX, USA.
出版信息
Leuk Res Rep. 2022 May 6;17:100323. doi: 10.1016/j.lrr.2022.100323. eCollection 2022.
Chronic myelomonocytic leukemia (CMML) is a clonal myeloid neoplasm characterized by sustained monocytosis and mutations in , and . We describe a rare case of T618I mutated CMML that has a proliferative phenotype, myelodysplasia, and additional mutations in and . Comparing the clinicopathologic features of this case to previously reported cases of T618I mutated CMML and non-T618I mutated CMML, T618I seems to define a unique proliferative subtype of CMML with a distinct mutational profile. The diagnostic challenges and molecular pathogenesis associated with this case are also briefly discussed.
慢性粒单核细胞白血病（CMML）是一种克隆性髓系肿瘤，其特征为持续性单核细胞增多以及[相关基因]的突变。我们描述了一例罕见的T618I突变型CMML病例，该病例具有增殖表型、骨髓发育异常以及[其他相关基因]的额外突变。将该病例的临床病理特征与先前报道的T618I突变型CMML病例和非T618I突变型CMML病例进行比较，T618I似乎定义了一种具有独特突变谱的CMML独特增殖亚型。本文还简要讨论了与该病例相关的诊断挑战和分子发病机制。
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