Genetic Characteristics of Resectable Colorectal Cancer with Pulmonary Metastasis

Qiu, Yan-Yu; Peng, Dong; Wei, Zheng-Qiang; Li, Jin-Dou; Huang, Yong-Jia; Yang, Jianye; Song, Z; Cheng, Yong

doi:10.1155/2022/2033876

Cited by 4 publications

(1 citation statement)

References 41 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…исследовали частоту мутаций как в первичной опухоли, так и в легочных метастазах у 19 больных колоректальным раком. При этом наиболее распространенными мутациями стали APC -89,5%, ТР53 -89,5% и KRAS -53,0% как в метастатической, так и в первичной опухоли, равно как и аминокислотная замена G12D в гене KRAS [29].…”

Section: Original Articleunclassified

Somatic mutations in colorectal cancer: regional experience

Огнерубов

Ezhova

2022

Consilium Medicum

View full text Add to dashboard Cite

Introduction. Colorectal cancer is one of the most common malignant neoplasms in economically developed countries, ranking 3rd and 2nd in the structure of morbidity and mortality, respectively. Current knowledge about the molecular features of colorectal cancer is necessary to implement the principle of personalized therapy. Aim. To study regional features of tumor genomic landscape in colorectal cancer. Materials and methods. The retrospective study from 2019 to 2022 included 153 patients with stage IIV colorectal cancer aged 32 to 80 years, with a median of 63.8 years. DNA samples extracted from paraffin blocks of tumor tissue were analyzed using a real-time polymerase chain reaction. The study patients included 43.8% of males and 56.2% of females. Results. Somatic mutations were detected in 48.4% of patients. The maximum number of mutations was detected in the KRAS gene 60 (81%). The mutation rate was significantly higher in females versus males. KRAS mutations predominate in the colon compared to the rectum, accounting for 66.7 and 33.3%, respectively. In tumors of the right colon, these mutations were detected in 18.3% of cases, and in the left colon, 48.4%. NRAS mutations were found in 9.5% of cases, mainly in tumors of the left colon. BRAF mutations were diagnosed in 6 patients, 5 of them were women, and the tumors were localized in the right colon. The highest rate of KRAS mutations was observed in codons 12 and 13, accounting for 86.7% of cases. The G12V mutation occurred in the majority of patients (25%), followed by G12D (20%) and G12A (16.6%). Conclusion. Somatic mutations in RAS and BRAF genes in colorectal cancer were detected in 48.4% of patients in the Tambov region. Among them, there is a predominance of KRAS mutations 81% in females. KRAS oncogenic mutations are predictors of treatment response and prognosis.

show abstract

Section: Original Articleunclassified

Somatic mutations in colorectal cancer: regional experience

Огнерубов

Ezhova

2022

Consilium Medicum

View full text Add to dashboard Cite

show abstract

Immunogenic cell death–related genes predict prognosis and response to immunotherapy in lung squamous cell carcinoma

Li,

Chen,

Dong

et al. 2024

Biotech and App Biochem

View full text Add to dashboard Cite

Lung squamous cell carcinoma (LUSC) is a malignancy with limited therapeutic options. Immunogenic cell death (ICD) has the potential to enhance the efficacy of cancer therapy by triggering immune responses. We aimed to explore the potential of ICD‐based classification in predicting prognosis and response to immunotherapy for LUSC. RNA‐seq information and clinical data of LUSC patients were obtained from The Cancer Genome Atlas (TCGA) dataset. ICD‐related gene expressions in LUSC samples were analyzed by consensus clustering. Subsequently, differentially expressed genes (DEGs) between different ICD‐related subsets were analyzed. Tumor mutation burden, immune cell infiltration, and survival analyses were conducted between different ICD subsets. Finally, an ICD‐related risk signature was constructed and evaluated in LUSC patients, and the immunotherapy responses based on the gene expressions were also forecasted. ICD‐high and ICD‐low groups were defined, and 1466 DEGs were identified between the two subtypes. These DEGs were mainly enriched in collagen‐containing extracellular matrix, cytokine–cytokine receptor interaction, the PI3K‐Akt signaling pathway, and neuroactive ligand–receptor interaction. Furthermore, the ICD‐low group exhibited a favorable prognosis, enhanced TTN and MUC16 mutation frequencies, increased infiltrating immune cells, and downregulated immune checkpoint expressions. Furthermore, we demonstrated that an ICD‐related model (based on CD4, NLRP3, NT5E, and TLR4 genes) could forecast the prognosis of LUSC, and ICD risk scores were lower in the responder group. In summary, the predicted values of ICD‐related genes (CD4, NLRP3, NT5E, and TLR4) for the prognosis and response to immunotherapy in LUSC were verified in the study, which benefits immunotherapy‐based interventions for LUSC patients.

show abstract