Cancer Genetics and Epigenetics, 2025, Vol.13, No.2, 62-76 http://medscipublisher.com/index.php/cge 68 Figure 2 (A) 50% of diffuse type/genome stable (GS) gastroesophageal adenocarcinoma (GEA) lymphoid aggregates, which we further characterized as tertiary lymphoid structures (TLS) by additional immunohistochemistry; (B) Presence of TLS in diffuse type/GS GEA was associated with a higher T cell and B cell function score; (C) Volcano plot showing the most differentially expressed genes in diffuse type/GS GEA with and without TLS; (D) The 12-chemokine gene expression signature is enriched in some but not all diffuse/GS GEA with TLS formation (Adopted from Derks et al., 2020) 7 Impact on Diagnosis and Prognosis 7.1 Genetic characteristics for early detection Early detection of esophageal adenocarcinoma (EAC) is of great significance for improving the therapeutic effect of patients. Recent studies have identified some genetic characteristics that can be used as early detection tools. For example, the characteristics of DNA methylation have been proven to distinguish normal tissues from EAC tissues. A diagnostic method has been proposed, which is based on the locations (DMPs) with different degrees of methylation on four genes (IKZF1, HOXA7, EFS and TSHZ3). This method has great potential in differentiating EAC from normal tissues and other cancers (Peng et al., 2021). Furthermore, chromosomal instability (CI) has been identified as a detectable signal in precancerous lesions (such as Barrett's esophagus (BE)), providing another path for early diagnosis (Killcoyne et al., 2021). TP53 gene variations exist in BE tissues and are also associated with a high risk of progressing to severe dysplasia or EAC, suggesting that TP53 may be a useful early detection indicator (Stachler et al., 2018).
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