Uysalol Ezgi Pasli, Uysalol Metin, Pehlivan Mustafa, Oyaci Yasemin, Pehlivan Sacide, Serin Istemi
Basaksehir Cam and Sakura City Hospital, Department of Pediatric Hematology- Oncology, Turkey.
Istanbul University, Istanbul Faculty of Medicine, Department of Pediatrics, Division of Pediatric Emergency, Turkey.
J Infect Chemother. 2022 May;28(5):657-662. doi: 10.1016/j.jiac.2022.01.012. Epub 2022 Feb 1.
Febrile neutropenia (FEN) was reported in patients with solid malignancies at a rate of 5-10% and in patients with hematological malignancies at a rate of 20-25%. In our study, we aimed to investigate the effects of mannose-binding lectin 2 (MBL2) (rs1800450) and suppressor of cytokine signaling-1 (SOCS1) (rs33989964) gene variants on patients with FEN.
A total of 123 patients who applied to pediatric emergency department between December 2019-12/2020 included in the study. Thirteen patients were excluded from the study due to the inability to obtain DNA. Demographic-clinical features at initial diagnosis and genotype distributions were recorded. The control group consisted of volunteers with the same ethnicity, age and gender, no active infection, and no consanguinity.
CA/CA genotype of SOCS1 was found to be significantly higher in the healthy control group (p = 0.028). AB/BB genotype of MBL2 was significantly higher in FEN patients with a MASCC score of high risk, AA genotype was found to be higher in patients with low risk (p = 0.001). While the rate of microbiologically documented infection (MDI) was significantly lower in patients with the AA genotype of MBL2, it was significantly higher in patients with AA/BB genotypes (p = 0.025). MDI rate in patients with the del/del genotype of SOCS1 was found to be significantly lower than in patients with CA/CA + CA/del genotypes (p = 0.026).
In this study, it was revealed that low expression-related MBL2 genotypes were riskier for FEN and also, gene variants associated with high SOCS1 transcription were both protective against FEN and increased the rate of culture-negativity.
实体恶性肿瘤患者中发热性中性粒细胞减少症（FEN）的发生率为5 - 10%，血液系统恶性肿瘤患者中的发生率为20 - 25%。在我们的研究中，我们旨在调查甘露糖结合凝集素2（MBL2）（rs1800450）和细胞因子信号转导抑制因子1（SOCS1）（rs33989964）基因变异对FEN患者的影响。
2019年12月至2020年12月期间到儿科急诊科就诊的123例患者纳入研究。13例患者因无法获取DNA而被排除在研究之外。记录初始诊断时的人口统计学 - 临床特征和基因型分布。对照组由种族、年龄和性别相同、无活动性感染且无近亲关系的志愿者组成。
发现健康对照组中SOCS1的CA/CA基因型显著更高（p = 0.028）。MBL2的AB/BB基因型在高危MASCC评分的FEN患者中显著更高，AA基因型在低危患者中更高（p = 0.001）。MBL2的AA基因型患者中微生物学确诊感染（MDI）率显著更低，而AA/BB基因型患者中MDI率显著更高（p = 0.025）。发现SOCS1的del/del基因型患者的MDI率显著低于CA/CA + CA/del基因型患者（p = 0.026）。
在本研究中，发现与低表达相关的MBL2基因型对FEN风险更高，而且，与SOCS1高转录相关的基因变异既对FEN有保护作用，又增加了培养阴性率。
