Yan Zhimin, Zeng Minjuan, Liu Yanquan
Department of Hematology, The First Affiliated Hospital of Gannan Medical University Ganzhou, Jiangxi, China.
Department of Anatomy, School of Basic Medicine, Guangdong Medical University Dongguan, Guangdong, China.
Am J Transl Res. 2023 Jun 15;15(6):4270-4278. eCollection 2023.
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.
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关键作用。慢性中性粒细胞白血病(CNL)是一种世界范围内罕见的血液肿瘤。它的特征是费城染色体BCR-ABL1阴性的骨髓增殖性肿瘤。它可能伴有多种基因的突变。集落刺激因子3受体(CSF3R)是CNL中的一种经典突变,被纳入CNL的诊断标准。本文描述了一名46岁男性患者,以腹胀未缓解及双下肢水肿等非特异性临床表现为主诉前来就诊。对该中年男性患者进行了外周血常规检查。生化检查显示异常。进行了骨髓活检以完成骨髓形态学、免疫学、分子生物学、细胞遗传学及影像学等各项检查。他被诊断为罕见的慢性中性粒细胞白血病。确诊后,患者按医嘱口服芦可替尼进行靶向治疗。医生定期复查外周血检查及骨髓状况。目前病情得到良好控制。CNL极为罕见。该疾病通常以非特异性临床特征和表现为主诉症状。这些症状很容易被漏诊或导致临床医生误诊。有必要提高对CNL的认识和警惕性。