Development of novel prediction models for nodal and distant metastasis in G1 and G2 colorectal neuroendocrine tumors

Wang, Zhijie; Liu, Qian

doi:10.1007/s00384-023-04331-x

Cited by 1 publication

(1 citation statement)

References 25 publications

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“…For a long time, G1 and G2 colorectal NENs were regarded as a type of benign disease by most physicians owing to their indolent nature. However, metastatic disease was indeed reported in G1 and G2 colorectal NENs in many previous reports [ 25 ]. We found that there were significantly different genetic characteristics between patients with metastatic disease and those without.…”

Section: Discussionmentioning

confidence: 95%

Analysis of the Genetic Characteristics and Metastatic Pathways of G1 and G2 Colorectal Neuroendocrine Neoplasms

Wang,

Chen,

Zhao

et al. 2023

Journal of the Endocrine Society

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Objective G1 and G2 colorectal neuroendocrine neoplasms (NENs) are a group of rare and indolent diseases. We aimed to delineate their genetic characteristics and explore their metastatic mechanisms. Methods We used next-generation sequencing technology for targeted sequencing for 54 patients with G1 and G2 colorectal NENs. We delineated their genetic features and compared the genetic characteristics between metastatic NENs and nonmetastatic NENs. KEGG enrichment analysis were utilized to explore their abnormal pathways and study their potential metastatic mechanisms. Results We collected 23 metastatic NENs and 31 nonmetastatic NENs. In the whole cohort, the common mutated genes were NCOR2, BRD4, MDC1, ARID1A, AXIN2, etc. The common copy number variations (CNVs) included amplification of HIST1H3D, amplification of HIST1H3E and loss of PTEN. The KEGG enrichment analysis revealed that PI3K-Akt, MAPK, and Rap1 were the major abnormal pathways. There were significantly different genetic features between metastatic NENs and nonmetastatic NENs. The metastatic NENs shared only 47 (22.5%) mutated genes and 6 (13.3%) CNVs with nonmetastatic NENs. NCOR2, BRD4, CDKN1B, CYP3A5, and EIF1AX were the commonly mutated genes in metastatic NENs, while NCOR2, MDC1, AXIN2, PIK3C2G, and PTPRT were the commonly mutated genes in nonmetastatic NENs. Metastatic NENs presented a significantly higher proportion of abnormal pathways of cell senescence (56.5% vs. 25.8%, P=0.022) and lysine degradation (43.5% vs. 16.1%, P=0.027) than nonmetastatic NENs. Conclusions G1 and G2 colorectal NENs are a group of heterogeneous diseases, they might obtain an increased invasive ability through aberrant cell senescence and lysine degradation pathways.

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Section: Discussionmentioning

confidence: 95%