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.
# # #
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.
TGen Senior Science Writer
Steve Yozwiak | EurekAlert!
New catalyst controls activation of a carbon-hydrogen bond
21.11.2017 | Emory Health Sciences
The main switch
21.11.2017 | Albert-Ludwigs-Universität Freiburg im Breisgau
The WHO reports an estimated 429,000 malaria deaths each year. The disease mostly affects tropical and subtropical regions and in particular the African continent. The Fraunhofer Institute for Silicate Research ISC teamed up with the Fraunhofer Institute for Molecular Biology and Applied Ecology IME and the Institute of Tropical Medicine at the University of Tübingen for a new test method to detect malaria parasites in blood. The idea of the research project “NanoFRET” is to develop a highly sensitive and reliable rapid diagnostic test so that patient treatment can begin as early as possible.
Malaria is caused by parasites transmitted by mosquito bite. The most dangerous form of malaria is malaria tropica. Left untreated, it is fatal in most cases....
The formation of stars in distant galaxies is still largely unexplored. For the first time, astron-omers at the University of Geneva have now been able to closely observe a star system six billion light-years away. In doing so, they are confirming earlier simulations made by the University of Zurich. One special effect is made possible by the multiple reflections of images that run through the cosmos like a snake.
Today, astronomers have a pretty accurate idea of how stars were formed in the recent cosmic past. But do these laws also apply to older galaxies? For around a...
Just because someone is smart and well-motivated doesn't mean he or she can learn the visual skills needed to excel at tasks like matching fingerprints, interpreting medical X-rays, keeping track of aircraft on radar displays or forensic face matching.
That is the implication of a new study which shows for the first time that there is a broad range of differences in people's visual ability and that these...
Computer Tomography (CT) is a standard procedure in hospitals, but so far, the technology has not been suitable for imaging extremely small objects. In PNAS, a team from the Technical University of Munich (TUM) describes a Nano-CT device that creates three-dimensional x-ray images at resolutions up to 100 nanometers. The first test application: Together with colleagues from the University of Kassel and Helmholtz-Zentrum Geesthacht the researchers analyzed the locomotory system of a velvet worm.
During a CT analysis, the object under investigation is x-rayed and a detector measures the respective amount of radiation absorbed from various angles....
The quantum world is fragile; error correction codes are needed to protect the information stored in a quantum object from the deteriorating effects of noise. Quantum physicists in Innsbruck have developed a protocol to pass quantum information between differently encoded building blocks of a future quantum computer, such as processors and memories. Scientists may use this protocol in the future to build a data bus for quantum computers. The researchers have published their work in the journal Nature Communications.
Future quantum computers will be able to solve problems where conventional computers fail today. We are still far away from any large-scale implementation,...
15.11.2017 | Event News
15.11.2017 | Event News
30.10.2017 | Event News
21.11.2017 | Physics and Astronomy
21.11.2017 | Physics and Astronomy
21.11.2017 | Life Sciences