Abstract：
Chronic myelomonocytic leukemia (CMML) is a myelodysplastic syndrome/myeloproliferative neoplasm (MDS/MPN) chacaterized by persistent peripheral blood monocytosis, hypercellular bone marrow and dysplasia at least in one myeloid lineage. CMML shares much of its molecular landscape with other myeloid neoplasms, while differs from others such as chronic neutrophilic leukemia (CNL), given the high frequency of CSF3R mutations in the latter. In this article, we report a case of CSF3R-mutated CMML and dissect this rare entity by reviewing the medical literature, with the intent to understand how this rare mutation shapes CMML\'s clinical and morphological phenotype. CSF3R-mutated CMML emerges as a rare entity meeting the ICC/WHO diagnostic criteria for CMML and simultaneously showing clinical-pathological and molecular traits of CNL and atypical chronic myeloid leukemia, rising an important and difficult diagnostic and therapeutical issue.
摘要：
慢性粒细胞单核细胞白血病（CMML）是一种骨髓增生异常综合征/骨髓增殖性肿瘤（MDS/MPN），由持续的外周血单核细胞增多症引起，高细胞骨髓和发育不良至少在一个髓系。CMML与其他骨髓性肿瘤共享其大部分分子景观，虽然不同于其他如慢性中性粒细胞白血病（CNL），鉴于CSF3R突变的频率较高。在这篇文章中,我们报告了一例CSF3R突变的CMML，并通过回顾医学文献解剖了这种罕见的实体，目的是了解这种罕见的突变如何塑造CMML的临床和形态表型。CSF3R突变的CMML是满足ICC/WHOCMML诊断标准的罕见实体，同时显示CNL和非典型慢性粒细胞白血病的临床病理和分子特征。提出了一个重要而困难的诊断和治疗问题。
