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Genome sequencing of multiple primary lung cancers harbouring mixed histology and spontaneously regressing small-cell lung cancer.pdf (1.8 MB)

Genome sequencing of multiple primary lung cancers harbouring mixed histology and spontaneously regressing small-cell lung cancer

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posted on 2024-05-01, 16:39 authored by Valentina Thomas, Ahmed Rashed, Clare Faul, Siobhan Nicholson, Vincent Young, John Hanson, Bryan HennessyBryan Hennessy, Sinead ToomeySinead Toomey, Simon FurneySimon Furney

Up to 15% of lung cancer patients present two or more anatomically separate primary lung lesions, known as multiple primary lung cancers (MPLCs). While surgical resection or stereotactic body radiation therapy (SBRT) is the standard of care for most early-stage lung cancer cases, this may not be an option for patients with widespread tumours, highlighting the need for the improved targeted management of MPLC patients, which remains challenging. Moreover, the spontaneous regression (SR) of small-cell lung cancer (SCLC) is rare, with only four cases accounted for between 1988 and 2018. We report a rare MPLC case harbouring the mixed histology of non-small-cell lung cancer adenocarcinoma (NSCLCa) and SCLC and the SR of SCLC without treatment. The patient was diagnosed in 2015 with MPLCs, identified as NSCLCa and SCLC. In 2016, a restaging PET/CT scan prior to the start of treatment showed SCLC SR. In 2018, a further tumour was detected in the patient's mandible, and a re-biopsy of the SCLC revealed histology consistent with NSCLCa. Whole-genome sequencing (WGS) analysis identified a high expression of programmed death ligand-1 (PDL-1) in the NSCLCa, which was treated with pembrolizumab. WGS revealed distinct genomic profiles and mutational mechanisms in MPLCs, suggesting the need for distinct targeted therapies to improve the management of MPLC patients and highlighting the importance of precision evaluation 

Funding

North-East Cancer Research and Education Trust (NECRET)

Royal College of Surgeons in Ireland StAR programme

SFI-HRB-Wellcome Research Partnership (212529/Z/18/Z)

History

Data Availability Statement

The datasets supporting the conclusion of this article are available through the Genomic Oncology Research Group Data Access Committee. The names of the repository/repositories and accession number(s) can be found below: European Genome-Phenome Archive(https://ega-archive.org/—Project ID: EGAC00001001585; accessed on 10 December 2023)

Comments

The original article is available at https://www.mdpi.com/

Published Citation

Thomas V. et al. Genome sequencing of multiple primary lung cancers harbouring mixed histology and spontaneously regressing small-cell lung cancer. J Pers Med. 2024;14(3):257

Publication Date

28 February 2024

PubMed ID

38540999

Department/Unit

  • Beaumont Hospital
  • Centre for Systems Medicine
  • Molecular Medicine
  • Physiology and Medical Physics

Publisher

MDPI AG

Version

  • Published Version (Version of Record)