Abstract
Purpose
The purpose of our study was to compare genomic changes in sinonasal intestinal-type adenocarcinoma (sITAC) and colorectal adenocarcinoma (CRC), as they are histomorphologically indistinguishable. This can cause diagnostic difficulties as sinonasal tumours initially diagnosed as sITAC may represent metastasis from CRC, a frequent cancer. Previous studies have not uncovered the underlying mechanism behind the histomorphological resemblance.
Methods/patients
Tissue samples from all consecutive patients with sITAC at our facility (20 patients) were compared to samples from 20 patients with CRC as well as samples from 2 patients with both CRC and sinonasal tumours. DNA sequencing was performed using Illumina TruSight Oncology 500 panel consisting of 523 cancer-associated genes. Frequent mutations were inspected manually using the Integrative Genomics Viewer.
Results
Several well-known cancer-associated genes were mutated in the CRC group, but also in the sinonasal ITAC group. These genes included APC mutated in 65% of the CRC group and 37% of the sinonasal ITAC group, and TP53 mutated in 65% of CRC samples and 58% of ITAC samples. These shared mutations may explain the histomorphological similarities. Successful DNA sequencing was performed on the colorectal sample from one of the two patients with both CRC and sinonasal tumour. Comparing mutations in these samples from one patient we have shown that the sinonasal tumour in all probability was a CRC metastasis.
Conclusion
We have identified several genetic similarities between sITAC and CRC. This discovery brings us closer to understanding mechanisms behind the development of sITAC—and hopefully in the future targeted therapy.
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Change history
08 December 2020
A Correction to this paper has been published: https://doi.org/10.1007/s00432-020-03473-7
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Sannia Mia Svenningsen Sjöstedt has received grants from King Christian XI Foundation and Harboe Foundation (both non-profit foundations) and Copenhagen University Hospital.
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This study was conducted retrospectively using tissue samples obtained as part of routine diagnostics and treatment. Ethical approval was given by the Danish Regional Ethics Committee (H-17023164).
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The original online version of this article was revised due to incorrect reference number 30 (Hwang et al. 2019). The correct reference has been updated.
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Sjöstedt, S., Schmidt, A.Y., Vieira, F.G. et al. Major driver mutations are shared between sinonasal intestinal-type adenocarcinoma and the morphologically identical colorectal adenocarcinoma. J Cancer Res Clin Oncol 147, 1019–1027 (2021). https://doi.org/10.1007/s00432-020-03421-5
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DOI: https://doi.org/10.1007/s00432-020-03421-5