Somatic mutations of amino acid metabolism-related genes in gastric and colorectal cancers and their regional heterogeneity - a short report

Abstract

Our data indicate that genes known to be involved in amino acid metabolism recurrently acquire somatic mutations in MSH-H GCs and MSH-H CRCs and that, in addition, mutation ITH does occur in at least some of these tumors. Together, these data suggest that metabolic reprogramming may play a role in the etiology of MSI-H GCs and CRCs. Our data also suggest that ultra-regional mutation analysis is required for a more comprehensive evaluation of the mutation status in these tumors.

Are disseminated tumor cells in bone marrow and tumor-stroma ratio clinically applicable for patients undergoing surgical resection of primary colorectal cancer? The Leiden MRD study

“…The clinical relevance of the molecular detection of DTCs appears to be restricted by both tumor cell heterogeneities [32] and technical limitations. Genomic analyses at a single cell level have shown that DTCs detected with anti-cytokeratin antibodies frequently exhibit heterogeneous tumor-specific aberrations, particularly in patients without overt metastases [33].…”

Loss of ACSS2 expression predicts poor prognosis in patients with gastric cancer

“…Interestingly, seven of these 8 mutations (87.5%) were from gastric cancers with MSI, indicating a strong relationship between loss of ACSS2 expression and MSI. A recent study demonstrated that genes known to be involved in amino acid metabolism such as AGXT , ALDH2 , and MTR recurrently acquire inactivating somatic mutations only in MSI‐high gastric and colorectal cancers, indicating that reprogramming of amino acid metabolism due to these mutations may play a role in the etiology of MSI‐high gastric and colorectal cancers . Thus, the role of ACSS 2 in gastric cancer needs to be investigated further in terms of MSI.…”

Functions of bromodomain-containing proteins and their roles in homeostasis and cancer

“…(Table)). Similar medium-to-large scale studies have identified mutation in BRD-containing proteins in hepatocellular carcinoma (HCC) 128 , squamous cell lung cancers 129 , lung adenocarcinomas [130][131][132] , small 133 and non-small cell lung cancers 134,135 , adenoid cystic carcinoma 136 , spinal ependymomas 137 , T-cell lymphoma 138 , thymic epithelial tumours 139 , cervical carcinomas 140 , endometrial carcinomas 141 , follicular lymphomas 142 , oesophageal squamous cell carcinomas [143][144][145] , colorectal (CRC) and gastric cancers 146 . However, no systematic studies focusing on the mutation load found on the actual BRD modules themselves exist and as such the contribution of Kac readout to the phenotypes observed remains elusive.…”