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北京大学学报（医学版） ›› 2020, Vol. 52 ›› Issue (5): 971-974. doi: 10.19723/j.issn.1671-167X.2020.05.030

• 病例报告 • 上一篇    下一篇

同时性多原发肺腺癌组织编码转录因子ERG基因相同位点突变1例报告

鲍轶1,2,∆(),莫娟芬2   

  1. 1.浙江省嘉兴市第二医院 肿瘤科,浙江嘉兴 314000
    2.浙江省嘉兴市第二医院 中心实验室,浙江嘉兴 314000
  • 收稿日期:2018-10-16 出版日期:2020-10-18 发布日期:2020-10-15
  • 通讯作者: 鲍轶 E-mail:ybao2011@gmail.com
  • 基金资助:
    嘉兴市科技计划(2016AY23054);浙江省医药卫生科技计划(2016KYB292)

Concordant point mutation of ETS-related gene (ERG) in tumor tissues from a synchronous multiple primary lung cancer: A case report

Yi BAO1,2,∆(),Juan-fen MO2   

  1. 1. Department of Oncology, The Second Hospital of Jiaxing, Jiaxing 314000, Zhejiang, China
    2. Key Laboratory, The Second Hospital of Jiaxing, Jiaxing 314000, Zhejiang, China
  • Received:2018-10-16 Online:2020-10-18 Published:2020-10-15
  • Contact: Yi BAO E-mail:ybao2011@gmail.com
  • Supported by:
    Science and Technology Bureau of Jiaxing(2016AY23054);Health Bureau of Zhejiang Province(2016KYB292)

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摘要：

关键词: 肺肿瘤, 肿瘤, 多原发性, ETS相关基因, 突变, 高通量核苷酸序列分析

Abstract:

The rearrangement of the gene encoding the transcription factor ETS-related gene (ERG) is thought to play a key role in the development of prostate cancer. However, the studies on the ERG mutations have been rarely reported in non-small cell lung carcinoma (NSCLC). Here, we reported genetic features regarding a case of a 68-year-old male patient who presented the primary synchronous multiple tumor lesions in the separated lungs. The patient was hospitalized due to the presence of tumor lesions at the right and left lungs revealed by a chest computerized tomography (CT) scan. After conducting lobectomies at the both lungs, the tumor nodules were all removed, and the histological analysis suggested adenocarcinoma at the both tumor lesions. The patient was diagnosed with synchronous multiple primary lung cancer (SMPLC) based on Martini-Melamed criteria and American College of Chest Physicians practice guidelines. An exome analysis of 315 genes in the two tumor lesions and a non-tumor lesion was conducted by using Illumina Nextseq500 platform from each tumor region to decipher a potential evolutional progress of SMPLC. Single or pair-end reads were first mapped to a human genome reference and filtered based on the mapping quality score. The read depth was ≥ 1 000× and the depth of coverage was 95%. The data revealed a discordant epidermal growth factor receptor (EGFR) from the separate lungs; additionally, a high frequency of point mutation on exon 9 H310P of the ERG gene was detected at the both sites of the tumor lesions. This case showed that a potential role of the molecular features analysis from each tumor lesion might contribute to the understanding of the evolutional development of SMPLC. This study suggests that the same environment may contribute certain gene(s) mutations in the same sites in the early stages of polyclonal tumor origins; meanwhile the extensive studies on these genes may help us understand the evolution and progress of tumor clones.

Key words: Lung neoplasms, Neoplasms, multiple primary, ETS-related gene, Mutation, High-throughput nucleotide sequencing

中图分类号: 

  • R734.2

图1

术前胸部CT扫描图像"

表1

315个基因组合中突变频率≥5%的体细胞突变在两侧癌灶间的对比"

Items Tumor nodule Gene Chromosome location Gene mutation Density Mutation frequency
Discordant (≥5%) Left side EGFR 7p11.2 exon21,c.2573T>G,p.L858R 1 844 15%(290/1 884)
ACVR1B 12q13.13 exon2,c.106T>A,p.C36S 554 9%(48/554)
GRIN2A 16p13.2 exon11,c.2326G>A,p.D776N 647 9% (56/647)
ATR 3q23 exon47,c.7912C>T,p.L2638F 483 7% (32/483)
EGFR 7p11.2 exon19,c.2240T>C,p.L747S 2 906 7% (207/2 906)
CBFR 16q22.1 exon5,c.481C>T,p.R161W 951 5% (48/951)
NF1 17q11.2 exon33,c.4462C>T,p.R1488C 775 5% (35/775)
NOTCH2 1p12 exon34,c.7153A>C,p.T2385P 914 5% (44/914)
Right side ARID2 12q12 exon5,c.539G>A,p.C180Y 588 6%(34/588)
ARID2 12q12 exon15,c.1960C>G,p.P654A 1 058 5% (48/1 058)
Concordant(≥5%) Left side ERG 21q22.2 exon9,c.929A>C,p.H310P 637 9% (60/637)
Right side ERG 21q22.2 exon9,c.929A>C,p.H310P 929 8% (74/929)

图2

利用cBioportal数据分析平台研究TCGA非小细胞肺癌ERG突变情况"

图3

通过cBioportal数据分析平台研究TCGA非小细胞肺癌ERG突变与总生存率的关系"

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