Whole-genome sequencing suggests a role of MIF in the pathophysiology of TEMPI syndrome

被引:13
作者
Sun, Chunyan [1 ]
Xu, Jian [1 ]
Zhang, Bo [1 ]
Huang, Haifan [1 ]
Chen, Lei [1 ]
Yan, Han [1 ]
Xu, Aoshuang [1 ]
Zhao, Fei [1 ]
Huang, Daijuan [2 ]
Liu, Liqiong [3 ]
Li, Jian [4 ]
Hu, Yu [1 ]
机构
[1] Huazhong Univ Sci & Technol, Union Hosp, Tongji Med Coll, Inst Hematol, 1277 Jiefang Ave, Wuhan 430022, Peoples R China
[2] Huazhong Univ Sci & Technol, Union Hosp, Tongji Med Coll, Dept Nucl Med, Wuhan, Peoples R China
[3] Huazhong Univ Sci & Technol, Dept Hematol, Union Shenzhen Hosp, Shenzhen 518052, Peoples R China
[4] Chinese Acad Med Sci & Peking Union Med Coll, Peking Union Med Coll Hosp, Dept Hematol, 1 Shuaifuyuan, Beijing 100730, Peoples R China
基金
中国国家自然科学基金;
关键词
MIGRATION INHIBITORY FACTOR; FLUID COLLECTIONS;
D O I
10.1182/bloodadvances.2020003783
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
TEMPI syndrome (telangiectasias, elevated erythropoietin level and erythrocytosis, monoclonal gammopathy, perinephric fluid collections, and intrapulmonary shunting) is a newly defined multisystemic disease with its pathophysiology largely unknown. Here, we report the whole-genome sequencing (WGS) analysis on the tumor-normal paired cells from a patient with TEMPI syndrome. WGS revealed somatic nonsynonymous single-nucleotide variants, including SLC7A8, NRP2, and AQP7. Complex structural variants of chromosome 2 were found, particularly within regions where some putative oncogenes reside. Of potential clinical relevance, duplication of 22q11.23 was identified, and the expression of the located gene macrophage migration inhibitory factor (MIF) was significantly upregulated in 3 patients with TEMPI syndrome. Importantly, the level of serum MIF in one patient with TEMPI syndrome was significantly decreased in accordance with the downtrend of plasma cells, M-protein, hemoglobin, and erythropoietin and the improvement of telangiectasias, perinephric fluid collections, and intrapulmonary shunting after treatment with plasma cell-directed therapy. In conclusion, our study provides insights into the genomic landscape and suggests a role of MIF in the pathophysiology of TEMPI syndrome.
引用
收藏
页码:2563 / 2568
页数:6
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