Friday, January 11, 2013 (Last Updated: 01/14/2013)
Isaac Kinde, of the Johns Hopkins Kimmel Cancer Center in Baltimore, and colleagues searched for mutations in 24 endometrial and 22 ovarian cancers using routinely-collected DNA from liquid-based Pap smears. Mutations were identified in all 46 tumors based on data from a panel of genes commonly mutated in endometrial and ovarian cancers compiled with new whole-exome sequencing data from 22 endometrial cancers and published data on other tumor types.
The researchers found that, using a sensitive massively parallel sequencing method, in 100 percent of endometrial cancers and 41 percent of ovarian cancers, the same mutations identified in the tumors were identified in the liquid Pap smear specimens. A sequence-based method was used to query mutations in 12 genes from a single liquid Pap smear specimen. The expected tumor-specific mutations were identified when applied to 14 samples selected from the positive cases described.
"In sum, these data highlight the high specificity of mutation-based diagnostics paired with the sensitivity of interrogating local-regional bodily secretions for tumor-derived DNA," the authors write. "PapGene testing has the capacity to increase the use of conventional cytology screening through the unambiguous detection of DNA from endometrial and ovarian carcinomas, and lays the foundation for a new generation of screening tests."
Several authors disclosed financial ties to Inostics and Personal Genome Diagnostics and are listed as inventors on patent applications, some of which pertain to the study topic.
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Hematology & Oncology
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