Detection of RAS gene mutation and its clinical significance in children with acute lymphoblastic leukemia北大核心CSCD

Objective To investigate the mutation rate of the RAS gene and its clinical significance in children with acute lymphoblastic leukemia. Methods A retrospective analysis was performed on the medical data of 120 children with newly diagnosed acute lymphoblastic leukemia, who were admitted to the Third Affiliated Hospital of Zhengzhou University from January 2015 to January 2020 and underwent next-generation sequencing. The clinical and molecular features were analyzed. The impact of RAS gene mutation on the overall survival rate was evaluated in these children. Results Among the 120 children, 35 (29.2%) had RAS gene mutation, 30 (25.0%) had KRAS gene mutation, and 5 (4.2%) had both NRAS and KRAS gene mutations. All NRAS mutations and 71% (25/35) of KRAS mutations were located at the 12th and 13th codons. RAS gene mutation was detected in 35 (33.3%) out of 105 children with B-lineage acute lymphoblastic leukemia, but it was not detected in those with acute T lymphocyte leukemia. Of all the children, 11 (9.2%) were lost to follow-up, and among the 109 children followed up, 16 (14.7%) died. The children with RAS gene mutation had a significantly lower 2-year overall survival rate than those without RAS gene mutation (P<0.05). The prognosis of children with RAS gene mutation combined with WT1 overexpression and WBC>50×109/L at diagnosis was worse (P<0.05). Conclusions RAS gene mutation is commonly observed in children with B-lineage acute lymphoblastic leukemia and may have an adverse effect on prognosis. © 2022 Xiangya Hospital of CSU. All rights reserved.     

CD40L基因c.509A>G突变的X连锁高IgM综合征1例

<正>1病例资料患儿,男,4岁5月龄,以“口唇苍白10余天、腹泻1周余”为主诉于2020年8月26日就诊于我院。患儿于10余天前无明显诱因出现口唇苍白,伴活动后乏力,无发热、咳嗽、流涕,无头痛、晕厥,无鼻衄、血尿、黑便。1周前患儿出现腹泻,稀水至稀糊状,5?6次/天,无粘液脓血便,伴低热,体温最高37.5℃,半天前至我院门诊就诊,查血常规：白细胞2.82×10⁹/L,中性粒细胞百分比28.0%,淋巴细胞百分比47.9%,血红蛋白50g/L,血小板522×10⁹/L,红细胞平均体积76.8fL,平均血红蛋白量25.0pg,MCHC 325g/L,网织红细胞0.0009×10¹²/L,网织白细胞0.04%。     

以高T淋巴细胞血症起病的传染性单核细胞增多症继发噬血细胞综合征1例

1岁4月龄患儿以发热起病,临床表现为肝脾肿大、淋巴结肿大,外周血异型淋巴细胞比例0.26,存在贫血、血小板降低、低纤维蛋白原血症、高甘油三酯、铁蛋白升高、可溶性CD25升高、EB病毒感染,同时有高T淋巴细胞血症,诊断为传染性单核细胞增多症继发噬血细胞综合征,给予甲泼尼龙、人免疫球蛋白、更昔洛韦抗病毒对症治疗,8周后疗效...     

CALR基因Ⅰ型突变的儿童纤维化前期原发性骨髓纤维化1例

患儿男, 8岁, 以"头痛、呕吐"就诊, 治疗过程中血小板计数最高2 312×109/L, 骨髓病理提示有核细胞增生过度, 可见异形巨核细胞, 部分呈"云朵样", 骨髓间质未见网状纤维明显增生, CALR基因Ⅰ型突变阳性, 诊断为儿童纤维化前期原发性骨髓纤维化, 给予重组人干扰素α、羟基脲及抗血小板药物治疗, 半年后复查骨髓病理, 未见纤维化进展及骨髓转化。随访2年半, 无明显肝脾肿大、血栓及出血事件。