Detecting genetic hypermutability of gastrointestinal tumor by using a forensic STR kit

doi:10.1007/s11684-019-0698-4

Frontiers of Medicine

2020, Vol. 14

Issue (1): 101-111 https://doi.org/10.1007/s11684-019-0698-4

本期目录

Detecting genetic hypermutability of gastrointestinal tumor by using a forensic STR kit

Anqi Chen^1,², Suhua Zhang², Jixi Li¹, Chaoneng Ji¹, Jinzhong Chen¹(

), Chengtao Li²(

)

¹. State Key Laboratory of Genetic Engineering, Institute of Genetics, School of Life Sciences, Fudan University, Shanghai 200433, China
². Shanghai Key Laboratory of Forensic Medicine, Shanghai Forensic Service Platform, Institute of Forensic Sciences, Ministry of Justice, Shanghai 200063, China

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Abstract：

Growing evidence suggests that somatic hypermutational status and programmed cell death-1 overexpression are potential predictive biomarkers indicating treatment benefits from immunotherapy using immune checkpoint inhibitors. However, biomarker-matched trials are still limited, and many of the genomic alterations remain difficult to target. To isolate the potential somatic hypermutational tumor from microsatellite instability low/microsatellite stability (MSI-L/MSS) cases, we employed two commercial kits to determine MSI and forensic short tandem repeat (STR) alternations in 250 gastrointestinal (GI) tumors. Three types of forensic STR alternations, namely, allelic loss, Aadd, and Anew, were identified. 62.4% (156/250) of the patients with GI exhibited STR alternation, including 100% (15/15) and 60% (141/235) of the microsatellite high instability and MSI-L/MSS cases, respectively. 30% (75/250) of the patients exhibited STR instability with more than 26.32% (26.32%–84.21%) STR alternation. The cutoff with 26.32% of the STR alternations covered all 15 MSI cases and suggested that it might be a potential threshold. Given the similar mechanism of the mutations of MSI and forensic STR, the widely used forensic identifier STR kit might provide potential usage for identifying hypermutational status in GI cancers.

Key words： mismatch repair protein deficiency (MMR-D) microsatellite instability (MSI) short tandem repeats (STR) gastrointestinal tumor hypermutability

收稿日期: 2018-10-17 出版日期: 2020-03-02

Corresponding Author(s): Jinzhong Chen,Chengtao Li

引用本文:

. [J]. Frontiers of Medicine, 2020, 14(1): 101-111.
Anqi Chen, Suhua Zhang, Jixi Li, Chaoneng Ji, Jinzhong Chen, Chengtao Li. Detecting genetic hypermutability of gastrointestinal tumor by using a forensic STR kit. Front. Med., 2020, 14(1): 101-111.

链接本文:

https://academic.hep.com.cn/fmd/CN/10.1007/s11684-019-0698-4
https://academic.hep.com.cn/fmd/CN/Y2020/V14/I1/101

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