Treatments and whole exon sequencing of a case with multiple primary lung cancer

Journal of Cardiothoracic Surgery

Case Report

Yue Peng¹  Ying Ji¹  Guangyu Bai²  Zhenlin Yang²  Liang Zhao²  Yuan Li² 

[1] Department of Thoracic Surgery, Beijing Chao-Yang Hospital, Capital Medical University, 100020, Beijing, China;Department of Thoracic Surgery, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, 100021, Beijing, China;

关键词: Synchronous multiple primary lung cancers;    Whole exon sequencing;    Thoracic surgery;    Gene detection;   

DOI  :  10.1186/s13019-023-02161-0

 received in 2022-11-05, accepted in 2023-01-24,  发布年份 2023

来源: Springer

【 摘 要 】

IntroductionThe number of patients with synchronous multiple primary lung cancer (sMPLC) has increased recently. However, diagnosing and selecting the appropriate therapeutic strategy for this type of disease is not simple.Case presentationThis report presented a case of sMPLC with lymph node metastasis. With no smoking and cancer history, this patient had seven nodules in the right lung and underwent single-portal video-assisted thoracoscopic surgery (VATS). In addition, she received four cycles of chemotherapy after the operation. Whole exon sequencing (WES) was performed in five resected tissue samples (four tumors and one lymph node). We conducted genomic profiling and clone evolution analysis of the five samples. Gene detection helped to confirm that the metastasis lymph node was transferred from one nodule. There was apparent heterogeneity of gene mutations among the five samples of the patient, with only one shared “neurofilament heavy polypeptide” (NEFH) mutation. A dominant substitution of C > T/G > A was found in all the samples. Pyclone model was used to calculate all tissues' cellular prevalence (CP) values, and NEFH mutations were thought to be the ancestral clones. During the follow-up period, residual lesions showed no apparent changes and limited response to chemotherapy.ConclusionsThis report showed an essential role in genomic detection and selecting the appropriate treatment of sMPLC. Surgery remains the primary treatment strategy for this type of disease, and the occurrence and development of sMPLC need more in-depth research.

【 授权许可】

CC BY   
© The Author(s) 2023

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