Single nucleotide polymorphism array analysis of chromosomal instability patterns discriminates rectal adenomas from
E H Lips1, E J de Graaf, R A E M Tollenaar
1Department of Pathology, Leiden University Medical Centre, The Netherlands.
The Journal of Pathology
|May 2, 2007
Summary
Identifying specific chromosomal aberrations can help distinguish between rectal adenomas and carcinomas. This genomic analysis could improve preoperative staging for treatments like transanal endoscopic microsurgery (TEM).
Area of Science:
- Oncology
- Genetics
- Surgical Pathology
Background:
- Total mesorectal excision (TME) is standard for rectal cancer.
- Transanal endoscopic microsurgery (TEM) is used for rectal adenomas.
- Accurate preoperative staging is crucial for TEM but often challenging.
Purpose of the Study:
- To identify genetic changes correlating with rectal tumor stage.
- To develop a method for optimized treatment selection.
- To differentiate between adenoma and carcinoma using genomic markers.
Main Methods:
- Genome-wide chromosomal instability analysis using 10K single nucleotide polymorphism (SNP) arrays.
- Analysis of 78 rectal tumors across different clinical stages.
- Logistic regression to model specific chromosomal aberrations.
Main Results:
- 95% of tumors exhibited chromosomal aberrations.
- A correlation was observed between the number of aberrations and tumor stage.
- Specific aberrations (gain of 8q22-24, 13q, 20q; loss of 17p, 18q12-22) were more frequent in carcinomas than adenomas.
- Combined aberrations like gain of 13q and loss of 18q were unique to carcinoma fractions.
Conclusions:
- Five genomic events can distinguish between adenoma and carcinoma tissue.
- These findings may aid in the preoperative staging of rectal tumors.
- Further validation is needed for clinical application in preoperative staging.
