Related Experiment Video
Updated: Aug 5, 2026
Detection of Targetable Alterations in Non-small Cell Lung Cancer using Next-generation Sequencing
Published on: October 10, 2025
[Analysis of the Gene Mutation Distribution and Its Relationship with Prognosis in Patients with Primary
Zhen Kou1, Si-Ying Lin1, Xiao-Long Qi1
1Department of Hematology, The People's Hospital of Xinjiang Uygur Autonomous Region, Urumqi 830001, Xinjiang Uygur Autonomous Region, China.
Objective:
To investigate the gene mutations in tumor tissues of patients with primary gastrointestinal diffuse large B-cell lymphoma (PGI-DLBCL), and analyze its relationship with clinical features and prognosis.
Methods:
A total of 31 newly diagnosed PGI-DLBCL patients treated in the People's Hospital of Xinjiang Uygur Autonomous Region from March 2009 to March 2021 and 81 nodal DLBCL patients matching gender, age, and ethnic group during the same period were collected. The sequencing of patients' tumor tissues were targeted by a panel of 475 lymphoma-related genes. The differences of mutational profiles and biological signaling pathway between PGI-DLBCL and nodal DLBCL were analyzed. The relationship between mutated genes and age, lactate dehydrogenase (LDH) level, Lugano stage, IPI score, cell origin typing, overall survival (OS) and progression-free survival (PFS) of PGI-DLBCL patients were investigated.
Results:
A total of 50 high frequency mutated genes (number of gene mutations ≥3, mutation frequency ≥10%) were detected in PGI-DLBCL. The mutation rates of GNA13, EZH2, and FBXO11 genes in PGI-DLBCL patients were significantly higher than those in nodal DLBCL patients. BTG2 and CD79B mutations were closely associated with high-risk of IPI scores and the elderly. MYD88 mutations were more easily detected in the elderly patients. And mutations of the P2RY8 and KMT2D gene were related to early stage of the disease and high LDH, respectively. Only GNA13 mutations were detected in GCB subtype, while KMT2C, IRF4 and ID3 mutations were most frequent in non-GCB subtype. Further studies found that patients with CARD11, FANCA and ID3 mutations showed lower 5-year OS rate (all P < 0.05), while ID3 and NFKBIE mutations were associated with poorer PFS (both P < 0.05). The results of multivariate survival analysis suggested that ID3 mutation was an independent adverse prognostic factor for OS (HR=6.213, 95%CI : 1.215-31.770, P =0.028) and PFS (HR=0.060, 95%CI : 0.012-0.307, P =0.001) in PGI-DLBCL patients.
Conclusion:
PGI-DLBCL has a characteristic gene mutation spectrum, which is different from the molecular mechanism of nodal DLBCL development. ID3 gene mutation is an independent prognostic factor for predicting poor prognosis of PGI-DLBCL.
