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

doi:10.19723/j.issn.1671-167X.2020.05.030

摘要/Abstract

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

鲍轶,莫娟芬. 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[J]. 北京大学学报（医学版）, 2020, 52(5): 971-974.

Yi BAO,Juan-fen MO. Concordant point mutation of ETS-related gene (ERG) in tumor tissues from a synchronous multiple primary lung cancer: A case report[J]. Journal of Peking University (Health Sciences), 2020, 52(5): 971-974.

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参考文献 11

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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)