Somatic Mutation Profiles Revealed by Next Generation Sequencing (NGS) in 39 Chinese Hepatocellular Carcinoma Patients

Ke, Lixin; Shen, Jianming; Feng, Jikun; Chen, Jialin; Shen, Shunli; Li, Shaoqiang; Liu, Liang; Lu, Cuncun; Li, Dongming; He, Qiang; Peng, Baogang; Hua, Yunpeng

doi:10.3389/fmolb.2021.800679

Cited by 4 publications

(2 citation statements)

References 40 publications

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“…A study analyzing the somatic mutation profile in Chinese patients with hepatocellular carcinoma by NGS also revealed the mutation profile of mucin genes, including MUC4, MUC17, MUC12, and MUC16. MUC17 was further found to have more co-mutations with TP53 [34]. A previous study using the same gene panel showed significantly higher mutation rates in MUC17 in the ESCC cohort compared to data from The Cancer Genome Atlas (79.5% vs. 5.7%) [18].…”

Section: Discussionmentioning

confidence: 70%

A 35-gene mutation profile predicts the therapeutic outcome of patients with esophageal squamous cell carcinoma receiving neo-adjuvant chemoradiation

Huang

2024

Am J Cancer Res

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Esophageal cancer is a common malignancy worldwide with a poor prognosis without radical resection. Neoadjuvant concurrent chemoradiotherapy (NACRT) followed by esophagectomy is widely used for treating locally advanced esophageal cancer in the thorax. The study aimed to assess mutation profiles and their correlation with therapeutic outcomes in patients diagnosed with locally advanced thoracic esophageal squamous cell carcinoma (ESCC). A retrospective analysis was conducted on 62 patients with ESCC who underwent NACRT. All patients received concurrent chemoradiotherapy (CCRT) utilizing intensity-modulated radiation therapy alongside concurrent chemotherapy with a cisplatin-based regimen. A 35-gene next-generation sequencing (NGS) panel detecting 402 genetic variants was used, which has been proven predictive in ESCC patients who received definitive chemoradiation. The 35-gene mutation profiles were analyzed in pre-treatment biopsies. The results reveled there were variants correlated with pathological complete remission or partial response, overall survival, and progression-free survival. A combination of p.Pro1319Ser and p.Arg2159Gly mutations in the MUC17 gene demonstrated an adverse impact on pathological response (OR [95% CI] = 7.00 (3.07-15.94), P < 0.001). Additionally, the variants located in the MUC17, MUC4, and MYH4 genes exhibited notably effects on tumor recurrence or mortality. Patients harboring either the MUC17 p.Thr2702Val or MUC4 p.Thr3355Ser mutation displayed a more than four-fold increased risk for disease recurrence or mortality. We concluded that specific mutations correlated to the pathological complete response in ESCC receiving neoadjuvant chemoradiation can be identified through the utilization of 35-gene expression profiles. Further investigation into the pathophysiological roles of MUC17 and MUC4 mutations in ESCC is warranted.

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Section: Discussionmentioning

confidence: 70%

A 35-gene mutation profile predicts the therapeutic outcome of patients with esophageal squamous cell carcinoma receiving neo-adjuvant chemoradiation

Huang

2024

Am J Cancer Res

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“…AHNAK2 has rarely been studied in HCC. A study collected 39 specimens of HCC patients from China, 22 of which were subjected to whole exome sequencing, and revealed a high mutation rate in AHNAK2 (22.7%, 5/22), although the high mutation rate in AHNAK2 was not explored in more detail ( 81 ).…”

Section: Relationship Between Ahnak Family and Tumor Developmentmentioning

confidence: 99%

AHNAKs roles in physiology and malignant tumors

Zhang,

Cai,

2023

Front. Oncol.

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The AHNAK family currently consists of two members, namely AHNAK and AHNAK2, both of which have a molecular weight exceeding 600 kDa. Homologous sequences account for approximately 90% of their composition, indicating a certain degree of similarity in terms of molecular structure and biological functions. AHNAK family members are involved in the regulation of various biological functions, such as calcium channel modulation and membrane repair. Furthermore, with advancements in biological and bioinformatics technologies, research on the relationship between the AHNAK family and tumors has rapidly increased in recent years, and its regulatory role in tumor progression has gradually been discovered. This article briefly describes the physiological functions of the AHNAK family, and reviews and analyzes the expression and molecular regulatory mechanisms of the AHNAK family in malignant tumors using Pubmed and TCGA databases. In summary, AHNAK participates in various physiological and pathological processes in the human body. In multiple types of cancers, abnormal expression of AHNAK and AHNAK2 is associated with prognosis, and they play a key regulatory role in tumor progression by activating signaling pathways such as ERK, MAPK, Wnt, and MEK, as well as promoting epithelial-mesenchymal transition.

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Genetic alterations are related to clinicopathological features and risk of recurrence/metastasis of hepatocellular carcinoma

Meng,

Jiang,

Shen

et al. 2024

European Journal of Cancer Prevention

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Lack of efficient biomarkers and clinical translation of molecular typing impedes the implementation of targeted therapy for hepatocellular carcinoma (HCC). High-throughput sequencing techniques represented by next-generation sequencing (NGS) are tools for detecting targetable genes. The objective of this study is to explore the genetic alterations associated with clinicopathological features and the risk of recurrence/metastasis in HCC. NGS analysis was conducted on formalin-fixed paraffin-embedded tissues from 164 resected liver samples obtained from Chinese patients. Morphologic subtypes were reviewed based on hematoxylin-eosin and immunohistochemistry staining, Correlation to the acquired molecular features were analyzed with clinicopathological information. We also retrieved follow-up information of the 123 transplanted cases from 2017 to 2019 to screen recurrence/metastasis-associated factors by univariate analysis. Generally, the most frequently mutated genes include TP53 and CTNNB1 which showed a trend of mutually exclusive mutation. Copy-number variant with the highest frequency was detected in TAF1 and CCND1 in 11q13.3 loci. Correlation analysis showed that various genetic alterations were associated with morphologic subtypes and other pathologic features. While gene signatures of proliferation/nonproliferation class were correlated with differentiation, satellite foci and other invasive morphological features. Macrotrabecular-massive subtype, TSC2 (tuberous sclerosis complex 2) mutation, Ki-67 expression, and other six factors were found to be associated with recurrence/metastasis after liver transplantation. Genetic alterations detected by NGS show correlation with not only pathological and clinical features, but also with recurrence/metastasis after liver transplantation. Further gene-level molecular typing will be practical for targeted therapy and individual recurrence risk assessment in HCC patients.

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Somatic Mutation Profiles Revealed by Next Generation Sequencing (NGS) in 39 Chinese Hepatocellular Carcinoma Patients

Cited by 4 publications

References 40 publications

A 35-gene mutation profile predicts the therapeutic outcome of patients with esophageal squamous cell carcinoma receiving neo-adjuvant chemoradiation

A 35-gene mutation profile predicts the therapeutic outcome of patients with esophageal squamous cell carcinoma receiving neo-adjuvant chemoradiation

AHNAKs roles in physiology and malignant tumors

Genetic alterations are related to clinicopathological features and risk of recurrence/metastasis of hepatocellular carcinoma

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