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

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.

journal_name

Front Med

journal_title

Frontiers of medicine

authors

Chen A,Zhang S,Li J,Ji C,Chen J,Li C

doi

10.1007/s11684-019-0698-4

subject

Has Abstract

pub_date

2020-02-01 00:00:00

pages

101-111

issue

1

eissn

2095-0217

issn

2095-0225

pii

10.1007/s11684-019-0698-4

journal_volume

14

pub_type

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