Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

TGen study identifies gene fusion as likely cause of rare type of thyroid cancer

20.03.2014

Genomic sequencing of 62-year-old patient leads to new treatment option

In a scientific first, the fusion of two genes, ALK and EML4, has been identified as the genetic driver in an aggressive type of thyroid cancer, according to a study by the Translational Genomics Research Institute (TGen).

These groundbreaking findings are based on genetic sequencing of tumor cells from a 62-year-old patient with an aggressive tall cell variant of papillary thyroid cancer, according to the study published Tuesday, March 18, in the World Journal of Surgery, the official journal of the International Society of Surgery.

The patient's thyroid cancer recurred after he had undergone multiple operations, external beam radiation and chemotherapy, and so the patient appeared to be a candidate for additional study.

Following one surgery in June 2011, a sample of the patient's tumor was obtained and studied by whole-genome sequencing, in which TGen spells out, in order, the more than 3 billion chemical base pairs that make up human DNA.

A comparison of the tumor DNA to the patient's normal DNA found 57 mutations in 55 genes of the cancer genome. The investigators also found a rearrangement between two genes.  This translocation and fusion of EML4-ALK was identified as the genetic driver of the patient's cancer.

"This is the first report of the whole genome sequencing of a papillary thyroid cancer, in which we identified an EML4-ALK translocation. This is important because we have a drug that can target this fusion and treat the patient," said Dr. Michael J. Demeure, Clinical Professor and Director of TGen's Rare Cancer Unit, and the study's the study's principal investigator and lead author. "This patient's tumor did not harbor more well-known gene mutations that are associated with most thyroid cancers. These findings suggest that this tumor has a distinct oncogenesis, or the genetic cause of cancer."

There are few therapeutic options for patients with radioiodine-resistant aggressive papillary thyroid cancer. The EML4-ALK fusion appears in about 5 percent of lung cancers, which are usually treated with a targeted drug known as crizotinib.

By identifying the EML4-ALK fusion in this study, TGen was able to recommend crizotinib for this study's 62-year-old patient, whose cancer then remained progression-free for more than 6 months.

"Whole-genome sequencing technologies offer the promise of allowing for precision targeted treatment for human diseases, including cancer," said Dr. John Carpten, TGen Deputy Director of Basic Science, and Director of TGen's Integrated Cancer Genomics Division, and the study's senior author. "Through a greater understanding of the molecular oncogenesis of a specific cancer, one would hope to devise more effective, individualized treatments."

Whole genome sequencing is particularly beneficial for patients with relatively rare tumors, since they generally have less access to new drug treatments often available through clinical trials, according to the study, Whole-genome sequencing of an aggressive BRAF wild-type papillary thyroid cancer identified EML4-ALK translocation as a therapeutic target.

Also contributing to this study were physicians from Arizona Oncology, and Scottsdale Pathology Consultants.

# # #

About TGen
Translational Genomics Research Institute (TGen) is a Phoenix, Arizona-based non-profit organization dedicated to conducting groundbreaking research with life changing results. TGen is focused on helping patients with cancer, neurological disorders and diabetes, through cutting edge translational research (the process of rapidly moving research towards patient benefit).  TGen physicians and scientists work to unravel the genetic components of both common and rare complex diseases in adults and children. Working with collaborators in the scientific and medical communities literally worldwide, TGen makes a substantial contribution to help our patients through efficiency and effectiveness of the translational process. For more information, visit: www.tgen.org.

Press Contact:
Steve Yozwiak
TGen Senior Science Writer
602-343-8704
syozwiak@tgen.org

Steve Yozwiak | EurekAlert!

Further reports about: Cancer DNA Genomics aggressive crizotinib diseases translocation

More articles from Life Sciences:

nachricht Ruby: Jacobs University scientists are collaborating in the development of a new type of chocolate
18.09.2017 | Jacobs University Bremen gGmbH

nachricht German scientists question study about plastic-eating caterpillars
15.09.2017 | Johannes Gutenberg-Universität Mainz

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Ultrafast snapshots of relaxing electrons in solids

Using ultrafast flashes of laser and x-ray radiation, scientists at the Max Planck Institute of Quantum Optics (Garching, Germany) took snapshots of the briefest electron motion inside a solid material to date. The electron motion lasted only 750 billionths of the billionth of a second before it fainted, setting a new record of human capability to capture ultrafast processes inside solids!

When x-rays shine onto solid materials or large molecules, an electron is pushed away from its original place near the nucleus of the atom, leaving a hole...

Im Focus: Quantum Sensors Decipher Magnetic Ordering in a New Semiconducting Material

For the first time, physicists have successfully imaged spiral magnetic ordering in a multiferroic material. These materials are considered highly promising candidates for future data storage media. The researchers were able to prove their findings using unique quantum sensors that were developed at Basel University and that can analyze electromagnetic fields on the nanometer scale. The results – obtained by scientists from the University of Basel’s Department of Physics, the Swiss Nanoscience Institute, the University of Montpellier and several laboratories from University Paris-Saclay – were recently published in the journal Nature.

Multiferroics are materials that simultaneously react to electric and magnetic fields. These two properties are rarely found together, and their combined...

Im Focus: Fast, convenient & standardized: New lab innovation for automated tissue engineering & drug

MBM ScienceBridge GmbH successfully negotiated a license agreement between University Medical Center Göttingen (UMG) and the biotech company Tissue Systems Holding GmbH about commercial use of a multi-well tissue plate for automated and reliable tissue engineering & drug testing.

MBM ScienceBridge GmbH successfully negotiated a license agreement between University Medical Center Göttingen (UMG) and the biotech company Tissue Systems...

Im Focus: Silencing bacteria

HZI researchers pave the way for new agents that render hospital pathogens mute

Pathogenic bacteria are becoming resistant to common antibiotics to an ever increasing degree. One of the most difficult germs is Pseudomonas aeruginosa, a...

Im Focus: Artificial Enzymes for Hydrogen Conversion

Scientists from the MPI for Chemical Energy Conversion report in the first issue of the new journal JOULE.

Cell Press has just released the first issue of Joule, a new journal dedicated to sustainable energy research. In this issue James Birrell, Olaf Rüdiger,...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

I-ESA 2018 – Call for Papers

12.09.2017 | Event News

EMBO at Basel Life, a new conference on current and emerging life science research

06.09.2017 | Event News

IVAM’s LaserForum visits the Swiss canton of St. Gallen with the topic ultrashort pulse lasers

06.09.2017 | Event News

 
Latest News

Robust and functional – surface finishing by suspension spraying

19.09.2017 | Materials Sciences

The Wadden Sea and the Elbe Studied with Zeppelin, Drones and Research Ships

19.09.2017 | Earth Sciences

Digging sensors out of an efficiency hole

19.09.2017 | Materials Sciences

VideoLinks
B2B-VideoLinks
More VideoLinks >>>