Identification of second primary tumors from lung metastases in patients with esophageal squamous cell carcinoma using whole-exome sequencing

Xue, Liyan; Li, Weihua; Fan, Xinyi; Zhao, Zitong; Zhou, Wei; Feng, Zhimin; Liu, Linxiu; Lin, Hua; Li, Lin; Xue, Xuemin; Huang, Xuanlin; Huang, Peide; Guo, Jia; Du, Peina; Lu, Ning; Li, Lin; Zhan, Qimin; Song, Yongmei

doi:10.7150/thno.45311

Nanotheranostics 2025; 9(1): 38-51. Full text PDF

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Theranostics 2020; 10(23):10606-10618. doi:10.7150/thno.45311 This issue Cite

Research Paper

Identification of second primary tumors from lung metastases in patients with esophageal squamous cell carcinoma using whole-exome sequencing

Liyan Xue^1,4,*, Weihua Li^1,*, Xinyi Fan^2,*, Zitong Zhao^2,*, Wei Zhou^2,*, Zhimin Feng^2,*, Linxiu Liu¹, Hua Lin³, Lin Li¹, Xuemin Xue¹, Xuanlin Huang², Peide Huang², Jia Guo², Peina Du², Ning Lu¹, Lin Li^6,✉, Qimin Zhan^2,5,✉, Yongmei Song^2,✉

1. Department of Pathology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100021, China
2. State Key Laboratory of Molecular Oncology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100021, China
3. Department of Medical Record, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100021, China
4. Center for Cancer Precision Medicine, Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100021, China
5. Laboratory of Molecular Oncology, Peking University Cancer Hospital, Beijing 100142, China
6. Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Key Laboratory for Endocrine Tumors, Rui-Jin Hospital, Shanghai Jiao-Tong University School of Medicine, Shanghai, 200025, China
* These authors contributed equally to this work.

Citation:

Xue L, Li W, Fan X, Zhao Z, Zhou W, Feng Z, Liu L, Lin H, Li L, Xue X, Huang X, Huang P, Guo J, Du P, Lu N, Li L, Zhan Q, Song Y. Identification of second primary tumors from lung metastases in patients with esophageal squamous cell carcinoma using whole-exome sequencing. Theranostics 2020; 10(23):10606-10618. doi:10.7150/thno.45311. https://www.thno.org/v10p10606.htm

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Abstract

Esophageal squamous cell carcinoma (ESCC) patients with a synchronous or metachronous lung tumor can be diagnosed with lung metastasis (LM) or a second primary tumor (SPT), but the accurate discrimination between LM and SPT remains a clinical dilemma. This study aimed to investigate the feasibility of using the whole-exome sequencing (WES) technique to distinguish SPT from LM.

Methods: We performed WES on 40 tumors from 14 patients, including 12 patients with double squamous cell carcinomas (SCCs) of the esophagus and lung (lymph node metastases were sequenced as internal controls) diagnosed as LM according to pathological information and 2 patients with paired primary ESCC and non-lung metastases examined as external controls.

Results: Shared genomic profiles between esophageal (T) and lung (D) tumors were observed in 7 patients, suggesting their clonal relatedness, thus indicating that the lung tumors of these patients should be LM. However, distinct genomic profiles between T and D tumors were observed in the other 5 patients, suggesting the possibility of SPTs that were likely formed through independent multifocal oncogenesis.

Conclusions: Our data demonstrate the limitations and insufficiency of clinicopathological criteria and that WES could be useful in understanding the clonal relationships of multiple SCCs.

Keywords: esophageal squamous cell carcinoma, lung metastasis, second primary tumor, whole-exome sequencing, clonal relationship

Citation styles

APA

Xue, L., Li, W., Fan, X., Zhao, Z., Zhou, W., Feng, Z., Liu, L., Lin, H., Li, L., Xue, X., Huang, X., Huang, P., Guo, J., Du, P., Lu, N., Li, L., Zhan, Q., Song, Y. (2020). Identification of second primary tumors from lung metastases in patients with esophageal squamous cell carcinoma using whole-exome sequencing. Theranostics, 10(23), 10606-10618. https://doi.org/10.7150/thno.45311.

ACS

Xue, L.; Li, W.; Fan, X.; Zhao, Z.; Zhou, W.; Feng, Z.; Liu, L.; Lin, H.; Li, L.; Xue, X.; Huang, X.; Huang, P.; Guo, J.; Du, P.; Lu, N.; Li, L.; Zhan, Q.; Song, Y. Identification of second primary tumors from lung metastases in patients with esophageal squamous cell carcinoma using whole-exome sequencing. Theranostics 2020, 10 (23), 10606-10618. DOI: 10.7150/thno.45311.

NLM

CSE

Xue L, Li W, Fan X, Zhao Z, Zhou W, Feng Z, Liu L, Lin H, Li L, Xue X, Huang X, Huang P, Guo J, Du P, Lu N, Li L, Zhan Q, Song Y. 2020. Identification of second primary tumors from lung metastases in patients with esophageal squamous cell carcinoma using whole-exome sequencing. Theranostics. 10(23):10606-10618.

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