Department of Urology, Central Japan International Medical Center, Minokamo, Japan;
Cancer Genomic Testing & Treatment Center, Central Japan International Medical Center, Minokamo, Japan.
Cancer Genomics Proteomics. 2024 Mar-Apr;21(2):203-212. doi: 10.21873/cgp.20441.
BACKGROUND/AIM: A genomic analysis based on next-generation sequencing is important for deciding cancer treatment strategies. Cancer tissue sometimes displays intratumor heterogeneity and a pathologic specimen may contain more than two tumor grades. Although tumor grades are very important for the cancer prognosis, the impact of higher tumor grade distribution in a specimen used for a genomic analysis is unknown.
We retrospectively analyzed the data of 61 clear cell carcinoma and 46 prostate cancer patients that were diagnosed between December 2018 and August 2022 using the GeneRead Human Comprehensive Cancer Panel or SureSelect PrePool custom Tier2. Genome annotation and curation were performed using the GenomeJack software.
Tumor mutation burden (TMB) was increased in proportion to the higher tumor grade distribution in grade 2 clear cell renal cell carcinoma (ccRCC). In PC, Grade Group 3/4 specimens that included an increased distribution of Gleason pattern 4 had more frequent gene mutations.
Our results suggest the importance of selecting the maximum distribution of higher tumor grade areas to obtain results on the precise gene alterations for genomics-focused treatments.
背景/目的：基于下一代测序的基因组分析对于决定癌症治疗策略非常重要。肿瘤组织有时会表现出肿瘤内异质性，一个病理标本可能包含两种以上的肿瘤级别。虽然肿瘤级别对于癌症预后非常重要，但用于基因组分析的标本中较高肿瘤级别分布的影响尚不清楚。
我们回顾性分析了 2018 年 12 月至 2022 年 8 月期间使用 GeneRead Human Comprehensive Cancer Panel 或 SureSelect PrePool custom Tier2 诊断的 61 例透明细胞癌和 46 例前列腺癌患者的数据。使用 GenomeJack 软件进行基因组注释和整理。
在 2 级透明细胞肾细胞癌（ccRCC）中，肿瘤突变负担（TMB）随较高肿瘤级别分布的增加而增加。在 PC 中，包含更多 Gleason 模式 4 分布的 3/4 级标本有更多的基因突变。
我们的结果表明，选择最大程度的高级别肿瘤区域分布对于获得针对基因组治疗的精确基因改变结果非常重要。
