PDF(Pubmed)
Abstract：
The pathogenesis of hematological tumors has not been fully elucidated. The academic community believes that genetic mutation abnormalities play a crucial role in the occurrence and development of hematological malignancies. Chronic neutrophilic leukemia (CNL) is a rare hematological tumor in the world. It is characterized by a Philadelphia chromosome BCR-ABL1-negative myeloproliferative tumor. It can be accompanied by mutations in various genes. Colony-stimulating factor 3 receptor (CSF3R) is a classic mutation in CNL and is included in the diagnostic criteria for CNL. This article described a 46-year-old male patient who came to the hospital with non-specific clinical manifestations such as unrelieved abdominal distension and edema of both lower extremities as the primary symptoms. The middle-aged male patient was provided with a peripheral a routine blood test. The biochemical tests revealed abnormalities. A bone marrow biopsy was performed to complete various tests such as bone marrow morphology, immunology, molecular biology, cytogenetics, and imaging. He was diagnosed with a rare chronic neutrophilic leukemia. After the diagnosis, the patient took ruxolitinib orally targeted therapy as prescribed by the doctor. Doctors regularly reviewed the peripheral blood examination and bone marrow status. The current condition is well controlled. CNL is extremely rare. The disease usually has non-specific clinical features and manifestations as the primary symptoms. These symptoms can easily be missed or lead to misdiagnosed ailments by clinicians. It is necessary to increase the awareness and vigilance of CNL.
摘要：
血液肿瘤的发病机制尚未完全阐明。学术界认为基因突变异常在血液系统恶性肿瘤的发生和发展中起着至关重要的作用。慢性中性粒细胞白血病(CNL)是世界上罕见的血液肿瘤。其特征在于费城染色体BCR-ABL1阴性骨髓增殖性肿瘤。它可能伴随着各种基因的突变。集落刺激因子3受体（CSF3R）是CNL中的经典突变，并包括在CNL的诊断标准中。本文描述了一名46岁的男性患者，该患者以无缓解的腹胀和双下肢水肿等非特异性临床表现为主要症状。中年男性患者接受了外周a血常规检查。生化测试显示异常。进行骨髓活检以完成各种测试，例如骨髓形态学，免疫学,分子生物学,细胞遗传学,和成像。他被诊断出患有罕见的慢性中性粒细胞白血病。诊断后,患者按照医生的处方服用了鲁索替尼口服靶向治疗.医生定期复查外周血检查和骨髓状况。目前的情况得到了很好的控制。CNL非常罕见。该疾病通常具有作为主要症状的非特异性临床特征和表现。这些症状很容易被遗漏或导致临床医生误诊。有必要提高对CNL的认识和警惕。
