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Objective:To summarize and analyze the clinical data of Chinese patients with colony-stimulating factor 1 receptor (CSF1R)-related leukoencephalopathy, and clarify the phenotypic and genetic characteristics of Chinese patients.Methods:Medical history of patients with CSF1R-related leukoencephalopathy diagnosed from April 1, 2018 to January 31, 2021 in the department of neurology of 22 hospitals in China was collected, and scores of Mini-Mental State Examination (MMSE), Montreal Cognitive Assessment Scale (MoCA), magnetic resonance severity scale were evaluated. Group comparison was performed between male and female patients.Results:A total of 62 patients were included, and the male-female ratio was 1∶1.95. The age of onset was (40.35±8.42) years. Cognitive impairment (82.3%, 51/62) and motor symptoms (77.4%,48/62) were the most common symptoms. The MMSE and MoCA scores were 18.79±7.16 and 13.96±7.23, respectively, and the scores of two scales in male patients (22.06±5.31 and 18.08±5.60) were significantly higher than those in females (15.53±7.41 , t=2.954, P=0.006; 10.15±6.26, t=3.328 , P=0.003). The most common radiographic feature was bilateral asymmetric white matter changes (100.0%), and the magnetic resonance imaging severity scale score was 27.42±11.40, while the white matter lesion score of females (22.94±8.39) was significantly higher than that of males (17.62±8.74 , t=-2.221, P<0.05). A total of 36 CSF1R gene mutations were found in this study, among which c.2381T>C/p.I794T was the hotspot mutation that carried by 17.9% (10/56) of the probands. Conclusions:The core phenotypic characteristics of CSF1R-related leukoencephalopathy in China are progressive motor and cognitive impairment, with bilateral asymmetrical white matter changes. In addition, there exist gender differences clinically, with severer cognitive impairment and imaging changes in female patients. Thirty-six CSF1R gene mutations were found in this study, and c.2381T>C/p. I794T was the hotspot mutation.
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Objective@#To investigate the clinical characteristics, cell morphology, genetics, gene mutations of the patients with chronic neutrophilic leukemia (CNL).@*Methods@#Five CNL patients from the Second Hospital of Shanxi Medical University between May 2011 and May 2017 who conformed to 2016 World Health Organization (WHO) diagnostic criteria were retrospectively analyzed from clinical characteristics, laboratory features and treatment methods.@*Results@#The peripheral blood white blood cell count (WBC) of 5 CNL patients was significantly increased, and the average WBC was 81.26×109/L [(29-217)×109/L]. Morphological analysis of peripheral blood cell showed a sustained increasing number of matured neutrophilia (0.80-0.85). Neutrophil alkaline phosphatase (NAP) activity was increased (144-266). Bone marrow cell morphology typically showed granulocyte proliferation without obvious dysplasia. Gene detection showed 3 patients with CSF3R T618I mutation and 2 patients with JAK2 V617F mutation in 5 WHO-defined CNL patients. Bone marrow biopsy with reticular staining showed that marrow fibrosis (MF) degree in patients with JAK2 V617F mutation (MF≥2) was higher than that in patients with CSF3R T618I mutation(MF<2).@*Conclusions@#CNL is a rare type of chronic leukemia, and CSF3R T618I mutation is a specific diagnostic index for CNL. JAK2 V617F mutations alone may be related to myelofibrosis, which remains to be further studied.