RGD Reference Report - Genetic Mutation Analysis in Small Cell Lung Cancer by a Novel NGS-Based Targeted Resequencing Gene Panel and Relation with Clinical Features. - Rat Genome Database

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Genetic Mutation Analysis in Small Cell Lung Cancer by a Novel NGS-Based Targeted Resequencing Gene Panel and Relation with Clinical Features.

Authors: Jin, Wang  Lei, Zhao  Xu, Sun  Fachen, Zhou  Yixiang, Zhang  Shilei, Zhao  Tao, Guo  Zhe, Sun  Fengzhou, Li  Su, Wen-Hui  Chundong, Gu 
Citation: Jin W, etal., Biomed Res Int. 2021 Apr 5;2021:3609028. doi: 10.1155/2021/3609028. eCollection 2021.
RGD ID: 151665493
Pubmed: PMID:33880365   (View Abstract at PubMed)
PMCID: PMC8046547   (View Article at PubMed Central)
DOI: DOI:10.1155/2021/3609028   (Journal Full-text)


Background: Small cell lung cancer (SCLC) is an aggressive and invasive malignancy that presents at advanced clinical stage with no more effective treatments. Development of a method for its early detection would be useful, also new therapeutic target need to be discovered; however, there is a lack of information about its oncogenic driver gene mutations.
Objectives: We aim to identify the SCLC-related genomic variants that associate with clinical staging and serum protein biomarkers observed in other types of lung cancer.
Methods: We screened formalin-fixed paraffin-embedded (FFPE) biopsy tissues of 32 Chinese SCLC patients using the 303 oncogenic driver gene panel generated by Tiling PCR amplification sequencing (tPAS) and analyzed the patients' corresponding serum protein levels of CYFRA21-1 CEA, NSE, and SCCA.
Results: In total, we found 147 SCLC-related mutant genes, among these, three important genes (TP53, RB1, KMT2D) as well as five novel genes LRRK2, BRCA1, PTCH1, ARID2, and APC that altogether occurred in 90% of patients. Furthermore, increased mutations to 6 genes (WT1, NOTCH1, EPHA3, KDM6A, SETD2, ACVR1B) significantly associated with higher serum NSE levels (P = 0.0016) and higher clinical stages II + III compared to stage I (P = 0.06).
Conclusions: Our panel is relatively reliable in detecting the oncogenic mutations of Chinese SCLC patients. Based on our findings, it may be possible to combine SCLC-related mutations and serum NSE for a simple detection of clinical staging.



RGD Manual Disease Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
ACVR1BHumanlung small cell carcinoma  IAGP  RGD 
Acvr1bRatlung small cell carcinoma  ISOACVR1B (Homo sapiens) RGD 
Acvr1bMouselung small cell carcinoma  ISOACVR1B (Homo sapiens) RGD 

Objects Annotated

Genes (Rattus norvegicus)
Acvr1b  (activin A receptor type 1B)

Genes (Mus musculus)
Acvr1b  (activin A receptor, type 1B)

Genes (Homo sapiens)
ACVR1B  (activin A receptor type 1B)


Additional Information