Fernandez-Pol Sebastian, Petersen Bruce, Murphy Jo-Ellen, Oak Jean S, Wang Erica B K, Rieger Kerri E, Kim Youn H, Khodadoust Michael S, Suarez Carlos J
Departments of Pathology.
Department of Pathology, Molecular and Cell-Based Medicine, Icahn School of Medicine at Mount Sinai, New York, NY.
Am J Surg Pathol. 2021 Feb 1;45(2):193-199. doi: 10.1097/PAS.0000000000001604.
Lymphocyte variant hypereosinophilic syndrome (LV-HES) is a rare cause of eosinophilia that is due to eosinophilipoietic cytokine production by an immunophenotypically abnormal T-cell clone. The molecular pathogenesis of this disorder is largely unknown and only 1 case of LV-HES with a pathogenic STAT3 mutation has been described thus far. Here we report 2 cases of LV-HES with STAT3 SH2 domain mutations. These cases further support the model that activation of STAT3 signaling through STAT3 SH2 domain mutations is a recurrent event in LV-HES.
淋巴细胞变异型嗜酸性粒细胞增多综合征（LV-HES）是嗜酸性粒细胞增多的一种罕见病因，由免疫表型异常的T细胞克隆产生嗜酸性粒细胞生成细胞因子所致。这种疾病的分子发病机制很大程度上尚不清楚，迄今为止仅报道过1例具有致病性STAT3突变的LV-HES。在此，我们报告2例具有STAT3 SH2结构域突变的LV-HES。这些病例进一步支持了通过STAT3 SH2结构域突变激活STAT3信号通路是LV-HES中反复出现的事件这一模型。
