American Association for Cancer Research
15417786mcr130624-sup-tab1.pdf (55.99 kB)

Supplementary Table 1 from HD Chromoendoscopy Coupled with DNA Mass Spectrometry Profiling Identifies Somatic Mutations in Microdissected Human Proximal Aberrant Crypt Foci

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journal contribution
posted on 2023-04-03, 16:20 authored by David A. Drew, Thomas J. Devers, Michael J. O'Brien, Nicole A. Horelik, Joel Levine, Daniel W. Rosenberg

PDF file - 57KB, 105 mutations to 22 known tumor suppressors and proto-oncogenes were screened for each sample.



Despite increased implementation of screening colonoscopy, interval cancers in the proximal colon remain a major public health concern. This fact underscores the limitations of current screening paradigms and the need for developing advanced endoscopic techniques. The density of aberrant crypt foci (ACF), the earliest identifiable mucosal abnormality, may serve as a surrogate marker for colon cancer risk, but has rarely been studied in the proximal colon. To this end, high-definition (HD) chromoendoscopy was conducted to define the relevance of ACF in the proximal colon. In addition, due to limited ACF size, the development of a combinatorial approach was required to maximize data acquisition obtained from individual biopsy samples. Proximal and distal ACF samples were characterized for a total of 105 mutations across 22 known tumor suppressor and proto-oncogenes using high-throughput Sequenom MassARRAY analysis. From this profiling, a discrete number of somatic mutations were identified, including APCR876* and FLT3I836M, as well as a deletion within the EGFR gene. Combined, these data highlight the significance of ACF within the context of colon cancer pathogenesis, particularly in the proximal colon.Implications: The identification of cancer-related mutations in commonly overlooked mucosal lesions underscores the preventive benefit of implementing advanced endoscopic screening to larger patient populations, particularly in the proximal colon.Visual Overview: Mol Cancer Res; 12(6); 823–9. ©2014 AACR.

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