Journal article
Tumour Genome Characterization of a Rare Case of Pulmonary Enteric Adenocarcinoma and Prior Colon Adenocarcinoma
Journal of personalized medicine, Vol.11(8), p.768
08/01/2021
DOI: 10.3390/jpm11080768
PMCID: PMC8398793
PMID: 34442412
Abstract
Pulmonary enteric adenocarcinoma (PEAC) is a rare variant of lung adenocarcinoma first described in the early 1990s in a lung tumour with overlapping lung and small intestine features. It is a rare tumour with fewer than 300 cases described in the published literature and was only formally classified in 2011. Given these characteristics the diagnosis is challenging, but even more so in a patient with prior gastrointestinal malignancy. A 68-year-old Caucasian female presented with a cough and was found to have a right upper lobe mass. Her history was significant for a pT3N1 colon adenocarcinoma. The resected lung tumour showed invasive lung adenocarcinoma but also features of colorectal origin. Immuno-stains were strongly and diffusely positive for lung and enteric markers. Multi-region, whole-exome sequencing of the mass and archival tissue from the prior colorectal cancer showed distinct genomic signatures with higher mutational burden in the PEAC and very minimal overlap in mutations between the two tumours. This case highlights the challenge of diagnosing rare lung tumours, but more specifically PEAC in a patient with prior gastro-intestinal cancer. Our use of multi-region, next-generation sequencing revealed distinct genomic signatures between the two tumours further supporting our diagnosis, and evidence of PEAC intra-tumour heterogeneity.
Details
- Title: Subtitle
- Tumour Genome Characterization of a Rare Case of Pulmonary Enteric Adenocarcinoma and Prior Colon Adenocarcinoma
- Creators
- Robert J. Smyth - Royal College of Surgeons in IrelandValentina Thomas - Royal College of Surgeons in IrelandJoanna Fay - Royal College of Surgeons in IrelandRonan Ryan - St. James's HospitalSiobhan Nicholson - St. James's HospitalRoss K. Morgan - Beaumont HospitalLiam Grogan - Royal College of Surgeons in IrelandOscar Breathnach - Beaumont HospitalPatrick G. Morris - Royal College of Surgeons in IrelandSinead Toomey - Royal College of Surgeons in IrelandBryan T. Hennessy - Royal College of Surgeons in IrelandSimon J. Furney - Royal College of Surgeons in Ireland
- Resource Type
- Journal article
- Publication Details
- Journal of personalized medicine, Vol.11(8), p.768
- Publisher
- Mdpi
- DOI
- 10.3390/jpm11080768
- PMID
- 34442412
- PMCID
- PMC8398793
- ISSN
- 2075-4426
- eISSN
- 2075-4426
- Number of pages
- 9
- Grant note
- North East Cancer Research and Education Trust (NECRET) Royal College of Surgeons in Ireland StAR programme
- Language
- English
- Date published
- 08/01/2021
- Academic Unit
- Pulmonary, Critical Care, and Occupational Medicine; Internal Medicine
- Record Identifier
- 9984695681702771
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