Abstract

Background

Pulmonary neuroendocrine tumors (pNETs) include typical carcinoid (TC), atypical carcinoid (AC), large cell neuroendocrine carcinoma (LCNEC), and small cell lung carcinoma (SCLC). The optimal treatment strategy for each subtype remains elusive, partly due to the lack of comprehensive understanding of their molecular features. We aimed to explore differential genomic signatures in pNET subtypes and identify potential prognostic and therapeutic biomarkers.

Methods

We investigated genomic profiles of 57 LCNECs, 49 SCLCs, 18 TCs, and 24 ACs by sequencing tumor tissues with a 520-gene panel and explored the associations between genomic features and prognosis.

Results

Both LCNEC and SCLC displayed higher mutation rates for TP53, PRKDC, SPTA1, NOTCH1, NOTCH2, and PTPRD than TC and AC. Small cell lung carcinoma harbored more frequent co-alterations in TP53-RB1, alterations in PIK3CA and SOX2, and mutations in HIF-1, VEGF and Notch pathways. Large cell neuroendocrine carcinoma (12.7 mutations/Mb) and SCLC (11.9 mutations/Mb) showed higher tumor mutational burdens than TC (2.4 mutations/Mb) and AC (7.1 mutations/Mb). 26.3% of LCNECs and 20.8% of ACs harbored alterations in classical non-small cell lung cancer driver genes. The presence of alterations in the homologous recombination pathway predicted longer progression-free survival in advanced LCNEC patients with systemic therapy (P = .005) and longer overall survival (OS) in SCLC patients with resection (P = .011). The presence of alterations in VEGF (P = .048) and estrogen (P = .018) signaling pathways both correlated with better OS in patients with resected SCLC.

Conclusion

We performed a comprehensive genomic investigation on 4 pNET subtypes in the Chinese population. Our data revealed distinctive genomic signatures in subtypes and provided new insights into the prognostic and therapeutic stratification of pNETs.

Details

Title
Comprehensive Characterization of the Genomic Landscape in Chinese Pulmonary Neuroendocrine Tumors Reveals Prognostic and Therapeutic Markers (CSWOG-1901)
Author
Peng, Wenying 1 ; Cao, Liming 2 ; Chen, Likun 3 ; Lin, Gen 4 ; Zhu, Bo 5 ; Hu, Xiaohua 6 ; Lin, Yingcheng 7 ; Zhang, Sheng 8 ; Jiang, Meilin 1 ; Wang, Jingyi 1 ; Li, Junjun 9 ; Li, Chao 10 ; Shao, Lin 11 ; Du, Haiwei 11 ; Hou, Ting 11 ; Chen, Zhiqiu 11 ; Xiang, Jianxing 11 ; Pu, Xingxiang 1 ; Li, Jia 1 ; Xu, Fang 1 ; Loong, Herbert 12 ; Wu, Lin 1 

 The Second Department of Thoracic Oncology, Hunan Cancer Hospital/The Affiliated Cancer Hospital of Xiangya School of Medicine, Central South University, Changsha, People’s Republic of China 
 Department of Respiratory Medicine, National Key Clinical Specialty, Branch of National Clinical Research Center for Respiratory Disease, Xiangya Hospital, Central South University, Changsha, Hunan, People’s Republic of China 
 Department of Medical Oncology, Sun Yat-Sen University Cancer Center, State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangzhou, People’s Republic of China 
 Department of Thoracic Oncology, Fujian Medical University Cancer Hospital, Fujian Cancer Hospital, Fuzhou, People’s Republic of China 
 Institute of Cancer, Xinqiao Hospital, Third Military Medical University, Chongqing, People’s Republic of China 
 The First Affiliated Hospital of Guangxi Medical University, Nanning, People’s Republic of China 
 Cancer Hospital of Shantou University Medical College, Shantou, People’s Republic of China 
 Cancer Center, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, People’s Republic of China 
 Department of Pathology, Hunan Cancer Hospital/The Affiliated Cancer Hospital of Xiangya School of Medicine, Central South University, Changsha, People’s Republic of China 
10  Department of Pathology, Fujian Medical University Cancer Hospital, Fujian Cancer Hospital, Fuzhou, People’s Republic of China 
11  Burning Rock Biotech, Guangzhou, People’s Republic of China 
12  Department of Clinical Oncology, Deputy Medical Director, Phase 1 Clinical Trials Centre, Chinese University of Hong Kong, Hong Kong SAR, People’s Republic of China 
Pages
e116-e125
Publication year
2022
Publication date
Feb 2022
Publisher
Oxford University Press
ISSN
10837159
e-ISSN
1549490X
Source type
Scholarly Journal
Language of publication
English
ProQuest document ID
3191371944
Copyright
© The Author(s) 2022. Published by Oxford University Press. This work is published under http://creativecommons.org/licenses/by-nc/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.