The extremely rare chronic neutrophilic leukemia characterized by unrelieved abdominal distention and swollen painful limbs

Abstract

Backgroud: Although the pathogenesis of hematological tumors has not been fully elucidated, the academic community believes that genetic mutation abnormalities caused by a wide range of environmental factors 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. In addition, it can be accompanied by mutations in various genes. Among them, Colony-stimulating factor 3 receptor (CSF3R) is a classic mutation in CNL and is included in the diagnostic criteria for CNL.Case presentation: This article describes 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 first symptoms. The middle-aged male patient was given a peripheral blood routine test and biochemical tests revealed abnormalities, and was then given a bone marrow biopsy to complete various tests such as bone marrow morphology, immunology, molecular biology, cytogenetics, and imaging. Finally, he was diagnosed as a rare chronic neutrophilic leukemia. After the diagnosis, the patient took ruxolitinib orally targeted therapy as prescribed by the doctor and regularly reviewed the peripheral blood examination and bone marrow status. The current condition is well controlled.Conclusion: CNL is extremely rare, and the disease usually has non-specific clinical features and manifestations as the first symptoms, which can easily lead to missed or misdiagnosed by clinicians. It is necessary to increase the awareness and vigilance of CNL.