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. 2021 Jun 1;106(6):1737-1739.
doi: 10.3324/haematol.2020.269209.

No association between ECSIT germline mutations and hemophagocytic lymphohistiocytosis in natural killer/T-cell lymphoma

Shin Yeu Ong  1 , Jing Quan Lim  2 , Nicholas Grigoropoulos  1 , Yurike Laurensia  3 , Dachuan Huang  2 , Burton Kuan Hui Chia  3 , Daryl Cheah Ming Zhe  3 , Sahil Ajit Saraf  4 , Chee Leong Cheng  4 , Wen-Yu Chuang  5 , Ming-Chung Kuo  6 , Yi-Jiun Su  6 , Colin Phipps  1 , Chandramouli Nagarajan  1 , Yuh Shan Lee  1 , Daryl Tan Chen Lung  1 , Lee-Yung Shih  6 , Yeow Tee Goh  1 , Soon Thye Lim  7 , Choon Kiat Ong  8
Affiliations

No association between ECSIT germline mutations and hemophagocytic lymphohistiocytosis in natural killer/T-cell lymphoma

Shin Yeu Ong et al. Haematologica. .
No abstract available

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Figures

Figure 1.
Figure 1.
ECSIT-T419C is a germline mutation not associated with hemophagocytic lymphohistiocytosis in natural killer/T-cell lymphoma patients. (A) Sanger sequencing electropherogram profile for tumor-normal paired samples with heterozygous ECSIT-V140A mutation, identified as L12, L14, L20, L21, and L24 in Jiang et al. (B and C) Representative Sanger sequencing electropherogram profile for two tumor- peripheral blood (B) and buccal swab (C) samples for the ECSITV140A mutation from Singapore local hospitals and the Sun Yat-Sen University Cancer Center in Guangzhou, China. (D) Integrative Genomics Viewer (IGV) snapshot centered around heterozygous germline ECSIT-T419C mutation of the paired tumor-normal exome sequencing data of sample NKT1 from Wen et al. Variant allele frequencies (VAF) were calculated from the number of variant-supporting/total read-counts at ECSIT-T419C. Aligned reads were colored pink according to the read-strand that they were aligned with onto the human reference genome. (E) No association between ECSIT mutation and clinical characteristics of natural killer/T-cell lymphoma patients in Singapore and Taiwan. ECSIT: evolutionarily conserved signaling intermediate in Toll pathway; IPI: international prognostic index, ECOG: Eastern Cooperative Oncology Group, HLH: hemophagocytic lymphohistiocytosis, Mut: mutant; WT: wild-type.
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References

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    1. Wen H, Ma H, Cai Q, et al. . Recurrent ECSIT mutation encoding V140A triggers hyperinflammation and promotes hemophagocytic syndrome in extranodal NK/T cell lymphoma. Nat Med. 2018; 24(2):154-164. - PubMed
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