背景:研究慢性中性粒细胞白血病并发浆细胞疾病(CNL-PCD)和淋巴细胞增殖性疾病(CNL-LPD)的分子生物学特征。
方法:回顾性分析我院1例慢性中性粒细胞白血病合并意义不明的单克隆丙种球蛋白病(CNL-MGUS)患者的临床资料。检索PubMed中有关CNL-PCD和CNL-LPD的中文和/或英文文献以及中国数据库CNKI近10年来对该病的分子生物学特征进行分析。
结果:一名73岁的男性有持续18个月的白细胞增多。白细胞计数为46.77×109/L,主要由成熟的中性粒细胞组成;血红蛋白:77g/L;血小板计数:189×109/L血清免疫固定电泳显示IgG-λ单克隆M蛋白。CT扫描显示脾肿大。下一代测序(NGS)显示CSF3RT618I,ASXL1和RUNX1突变呈阳性。诊断为CNL-MGUS。我们总结了文献报道的10例CNL-PCD和1例CNL-LPD进行基因突变检测的病例。CSF3R的突变频率(7/11,63.6%)低于分离的CNL。ASXL1突变均为阳性(3/3),这可能是一个不良的预后因素。SETBP1突变可能促进CNL-PCD的进展。我们还发现了JAK2,RUNX1,NRAS,等。在CNL-PCD中。
结论:慢性中性粒细胞白血病可能更倾向于与浆细胞疾病并存。与分离的CNL相比,CNL-PCD中的CSF3R突变仍然是最常见的突变基因。SETBP1和ASXL1的突变可能是CNL-PCD的不良预后因素。
BACKGROUND: Study of the molecular biological characteristics of chronic neutrophilic leukemia complicated with plasma cell disorder (CNL-PCD) and lymphocytic proliferative disease (CNL-LPD).
METHODS: The clinical data of a patient with chronic neutrophilic leukemia complicated with monoclonal gammopathy of undetermined significance (CNL-MGUS) in our hospital were reviewed, and the Chinese and/or English literature about CNL-PCD and CNL-LPD in PubMed and the Chinese database CNKI in the past 10 years was searched to analyze the molecular biological characteristics of this disease.
RESULTS: A 73-year-old male had persistent leukocytosis for 18 months. The white blood cell count was 46.77 × 109/L and primarily composed of mature neutrophils; hemoglobin: 77 g/L; platelet count: 189 × 109/L. Serum immunofixation electrophoresis showed IgG-λ monoclonal M protein. A CT scan showed splenomegaly. Next-generation sequencing (NGS) showed that CSF3R T618I, ASXL1 and RUNX1 mutations were positive. It was diagnosed as CNL-MGUS. We summarized 10 cases of CNL-PCD and 1
case of CNL-LPD who underwent genetic mutation detection reported in the literature. The CSF3R mutational frequency (7/11, 63.6%) was lower than that of isolated CNL. The ASXL1 mutations were all positive (3/3), which may represent a poor prognostic factor. The SETBP1 mutation may promote the progression of CNL-PCD. We also found JAK2, RUNX1, NRAS, etc. in CNL-PCD.
CONCLUSIONS: Chronic neutrophilic leukemia may be more inclined to coexist with plasma cell disorder. The CSF3R mutation in CNL-PCD is still the most common mutated gene compared with isolated CNL. Mutations in SETBP1 and ASXL1 may be poor prognostic factors for CNL-PCD.