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. 2022 Sep;42(9):4381-4394.
doi: 10.21873/anticanres.15938.

Genetic and Transcriptional Analysis of 8q24.21 Cluster in Gastric Cancer

Brunno Santos Pereira  1 , Fernanda Wisnieski  1   2 , Danielle Queiroz Calcagno  3 , Leonardo Caires Santos  1 , Carolina Oliveira Gigek  1   4 , Elizabeth Suchi Chen  1 , Lucas Trevizani Rasmussen  5 , Spencer Luiz Marques Payão  5 , Renata Sanches Almeida  1 , Camila Albuquerque Pinto  1 , Bruno Takao Real Karia  1 , Ricardo Artigiani  4 , Samia Demachki  3 , Paulo Pimentel Assumpção  3 , Laercio Gomes Lourenço  6 , Carlos Haruo Arasaki  6 , Rommel Rodríguez Burbano  3   7 , Mariana Ferreira Leal  1   3 , Marilia Arruda Cardoso Smith  8
Affiliations

Genetic and Transcriptional Analysis of 8q24.21 Cluster in Gastric Cancer

Brunno Santos Pereira et al. Anticancer Res. 2022 Sep.

Abstract

Background/aim: Previous studies from our research group have shown that trisomy 8 and the amplification of the 8q24.21 region is very frequent in gastric cancer (GC). Little is known about the role of most genes located in this region. Thus, the aim of this study was to understand the possible impact of transcriptional alterations and copy number variation (CNV) of four genes located in the 8q24.21 region - FAM49B, FAM84B, GSDMC and miR-5194 - in GC.

Materials and methods: Fifty-one to 85 matched pairs of tumoral and adjacent non-tumoral gastric tissues, from patients with primary GC, were used to analyze gene expression and CNV of the selected genes. We also included 29 H. pylori negative and gastritis negative gastric mucosa tissues from individuals without cancer obtained by endoscopy, as control samples.

Results: The expression of FAM49B, GSDMC and miR-5194 was higher in both tumoral and adjacent non-tumoral samples compared to the negative control. The expression of FAM84B showed no significant difference between tumoral samples and negative controls. However, the expression of FAM84B in the adjacent non-tumoral samples was higher compared to negative control and tumoral samples. Moreover, the higher expression of GSDMC was associated with T3 and T4 tumors, with tumors on stage III and IV and with advanced tumors. Higher copy numbers of FAM49B and GSDMC were associated with intestinal tumor type and with moderately or well-differentiated tumors. Higher copy number of FAM84B was associated with moderately or well-differentiated tumors. Furthermore, the expression of all four genes was positively correlated.

Conclusion: All four genes are upregulated in GC and may play an important role in these neoplasms. GSDMC expression was associated with more aggressive tumors.

Keywords: 8q24.21; CNV; Gastric cancer; gene expression.

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