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Aurora magazine

The role of Next-Generation Sequencing in cancer diagnostic

An international team of Mount Sinai Hospital and the UConn School of Medicine have discovered how to deal with some rare forms of cancer. The credit goes to the use of latest-generation genome sequencing, similar to what is used for prenatal diagnostic tests. The study demonstrates the effectiveness of the approach and opens the door to new treatment options for rare diseases.

The researchers carried out the sequencing on tumor and normal tissues of 17 patients. The subjects were suffering from parathyroid carcinoma, a rare form of cancer for which no treatment exists. The tumor causes progressive metabolic complications that cause calcium levels in the blood very high, weak bones, kidney damage and eventually death. At the moment the only hope is early surgery.

The analysis revealed mutations in genes linked to the development of cancer and paths. Among these are the CDC73, the path PI3K / AKT / mTOR and Wnt, already known. This in-depth characterization has revealed the genetic mechanisms involved in parathyroid carcinoma. The discovery could lead to the development of the first treatment for patients examined.

For the moment it is the largest genome sequencing ever done among those dedicated only to parathyroid carcinoma. The approach proved to be potentially useful not only for this specific disease, but also for many other cases. The sequencing fact allow in-depth study of many diseases neglected today, as too rare. It will also provide a new point of view, even when there are few cases to study.

The study combined two great excellence. On one side are the researchers at UConn, specialized in parathyroid tumors and endrocrini diseases. On the other are those of Mount Sinai, the first in the world to genome sequencing and bioinformatics analysis.