Whole-exome sequencing reveals an association of rs112065068 in TGOLN2 gene with distant metastasis of non-small cell lung cancer

Early prediction and prevention of recurring illness is critical for improving the survival rates of patients with non-small cell lung cancer (NSCLC). Previously, we demonstrated that the presence of premalignant epithelial changes in the small bronchi distant to the primary tumor is associated with NSCLC progression: isolated basal cell hyperplasia (iBCH) indicates a high risk of distant metastasis, BCH combined with squamous metaplasia (BCHSM) – a high risk of locoregional recurrence. Here, we aimed to identify germline single nucleotide variants (SNVs) and insertions and deletions (InDels) associated with distant metastasis and locoregional recurrence in cases with iBCH and BCHSM using whole-exome sequencing of 172 NSCLC patients. The rs112065068 of the TGOLN2 gene was identified only in iBCH patients and was associated with a high risk of distant metastasis (P <.001) and worse metastasis-free survival (HR = 4.19 (95 %CI 1.97–8.93); P <.001). This variant was validated in a group of 109 NSCLC patients using real-time PCR and Sanger sequencing analyses. To our knowledge, this study is the first to identify a germline variant associated with NSCLC distant metastasis. © 2024 Elsevier B.V., All rights reserved.

Авторы
Gerashchenko T.S. 1, 2 , Skitchenko Rostislav K. 3 , Korobeynikova Anastasia Alekseevna 1, 2 , Kuanysheva Kristina A. 1 , Khozyainova Anna A. 1 , Vorobev Rostislav S. 1 , Rodionov E.O. 4 , Miller S.V. 4 , Topolnitskiy E.B. 5 , Shefer Nikolaj Anatolyevich 5 , Anisimenko Maksim S. 6 , Zhuykova L.D. 7 , Vashisth Mrinal 8 , Pankova Olga V. 9 , Perelmuter Vladimir M. 9 , Rezapova Valeriia 3, 10 , Artomov Mykyta N. 11, 12 , Denisov Evgeny V. 1, 2
Journal
Gene
Издательство
Elsevier B.V.
Язык
English
Статус
Published
Ссылка
Внешняя ссылка
DOI
10.1016/J.GENE.2024.148507
Номер
148507
Том
920
Год
2024
Организации
  • 1 Laboratory of Cancer Progression Biology, Cancer Research Institute, Tomsk National Research Medical Center, Russian Academy of Sciences, Tomsk, Russian Federation
  • 2 Laboratory of Single Cell Biology, RUDN University, Moscow, Russian Federation
  • 3 ITMO, Saint Petersburg, Russian Federation
  • 4 Department of Thoracic Oncology, Cancer Research Institute, Tomsk National Research Medical Center, Russian Academy of Sciences, Tomsk, Russian Federation
  • 5 Department of Surgery with a Course of Mobilization Training and Disaster Medicine, Siberian State Medical University, Tomsk, Russian Federation
  • 6 Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russian Federation
  • 7 Laboratory of Epidemiology, Cancer Research Institute, Tomsk National Research Medical Center, Russian Academy of Sciences, Tomsk, Russian Federation
  • 8 Tomsk State University, Tomsk, Russian Federation
  • 9 Department of General and Molecular Pathology, Cancer Research Institute, Tomsk National Research Medical Center, Russian Academy of Sciences, Tomsk, Russian Federation
  • 10 Université Côte d'Azur, Nice, France
  • 11 Nationwide Children’s Hospital, Columbus, United States
  • 12 Department of Pediatrics, The Ohio State University College of Medicine, Columbus, United States
Ключевые слова
Genetic predisposition; Germline variant; Lung cancer; Metastasis; Premalignant lesions; Whole-exome sequencing
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АКТУАЛЬНЫЕ ПРОБЛЕМЫ МЕЖДУНАРОДНЫХ ОТНОШЕНИЙ И ВНЕШНЕЙ ПОЛИТИКИ В ХХI ВЕКЕ

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