Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Discovery of genetic mutations better diagnose myelodysplastic syndromes

01.07.2011
Researchers at Brigham and Women's Hospital have developed a means of improving prognosis methods and predicting how long patients with MDS will live after diagnosis by identifying certain gene mutations in their abnormal bone marrow

For patients with myelodysplastic syndromes (MDS), choosing the appropriate treatment depends heavily on the prognosis. Those patients at the highest risk of dying from their disease are typically offered the most aggressive therapies, while patients at lower risk could live several years with MDS, needing only supportive care or other relatively side-effect free treatments.

While some clinical variables are useful, current methods for predicting prognosis for individual patients are not ideal. Patients with the same clinical features can have very different outcomes from their disease. Researchers at Brigham and Women's Hospital (BWH) have developed a means of improving prognosis methods and predicting how long patients with MDS will live after diagnosis by identifying certain gene mutations in their abnormal bone marrow. These findings are published in the June 30 issue of the New England Journal of Medicine.

MDS is a cancer of the bone marrow and blood that can range in severity and likelihood to progress to acute leukemia. For patients with related diseases, such as acute myeloid leukemias or myeloproliferative disorders, single gene mutations are commonly used to make diagnoses, predict outcomes, and track disease burden. "Information about gene mutations is not used clinically at the moment for patients with MDS," noted Benjamin Levine Ebert, MD, PhD, at BWH. "In particular, using these mutations to determine the prognosis of patients can help dictate appropriate treatment for patients based on the current state of the disease."

The researchers used a combination of genomic approaches, including next-generation sequencing and mass spectrometry–based genotyping, to identify mutations in samples of bone marrow from 439 patients with MDS. They then examined whether the mutation status for each gene was associated with clinical variables and overall survival.

Clinicians currently use scoring systems to classify MDS patients into different risk groups based on clinical features of their disease, but mutations in individual genes are not currently used. Some patients currently predicted to have low risk disease progress rapidly. "In this study we identified mutations in several genes that predict a worse prognosis for patients than we would have expected using the most commonly used clinical scoring system (the International Prognostic Scoring System for MDS, or IPSS)," said Dr. Ebert.

Nearly a third of the patients in this study were found to have mutations in one or more of the five prognostic genes identified. If physicians knew that one of their low risk patients had such a mutation, they might decide to offer them more aggressive treatment or monitor them more closely.

Prior studies have suggested that mutations in individual genes can change the predicted prognosis of patients in MDS, but often included only a small number of patients or only considered mutations in a few genes. This study is the first to examine a large number of genes in such a large group of patients, allowing the researchers to determine how frequently mutations in different genes occurred and how often they overlapped with each other. This also allowed them to determine which mutations were the most important independent predictors of prognosis.

Moving forward, researchers hope to identify mutations that predict response to individual therapies. They expect that this genetic information will be used clinically as part of a novel prognostic scoring system and as predictors of therapeutic responses. This will allow us to further individualize the care of patients with MDS.

Brigham and Women's Hospital (BWH) is a 793-bed nonprofit teaching affiliate of Harvard Medical School and a founding member of Partners HealthCare, an integrated health care delivery network. BWH is the home of the Carl J. and Ruth Shapiro Cardiovascular Center, the most advanced center of its kind. BWH is committed to excellence in patient care with expertise in virtually every specialty of medicine and surgery. The BWH medical preeminence dates back to 1832, and today that rich history in clinical care is coupled with its national leadership in quality improvement and patient safety initiatives and its dedication to educating and training the next generation of health care professionals. Through investigation and discovery conducted at its Biomedical Research Institute (BRI), www.brighamandwomens.org/research , BWH is an international leader in basic, clinical and translational research on human diseases, involving more than 900 physician-investigators and renowned biomedical scientists and faculty supported by more than $537 M in funding. BWH is also home to major landmark epidemiologic population studies, including the Nurses' and Physicians' Health Studies and the Women's Health Initiative. For more information about BWH, please visit www.brighamandwomens.org

Holly Brown-Ayers | EurekAlert!
Further information:
http://www.brighamandwomens.org

More articles from Life Sciences:

nachricht The balancing act: An enzyme that links endocytosis to membrane recycling
07.12.2016 | National Centre for Biological Sciences

nachricht Transforming plant cells from generalists to specialists
07.12.2016 | Duke University

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Significantly more productivity in USP lasers

In recent years, lasers with ultrashort pulses (USP) down to the femtosecond range have become established on an industrial scale. They could advance some applications with the much-lauded “cold ablation” – if that meant they would then achieve more throughput. A new generation of process engineering that will address this issue in particular will be discussed at the “4th UKP Workshop – Ultrafast Laser Technology” in April 2017.

Even back in the 1990s, scientists were comparing materials processing with nanosecond, picosecond and femtosesecond pulses. The result was surprising:...

Im Focus: Shape matters when light meets atom

Mapping the interaction of a single atom with a single photon may inform design of quantum devices

Have you ever wondered how you see the world? Vision is about photons of light, which are packets of energy, interacting with the atoms or molecules in what...

Im Focus: Novel silicon etching technique crafts 3-D gradient refractive index micro-optics

A multi-institutional research collaboration has created a novel approach for fabricating three-dimensional micro-optics through the shape-defined formation of porous silicon (PSi), with broad impacts in integrated optoelectronics, imaging, and photovoltaics.

Working with colleagues at Stanford and The Dow Chemical Company, researchers at the University of Illinois at Urbana-Champaign fabricated 3-D birefringent...

Im Focus: Quantum Particles Form Droplets

In experiments with magnetic atoms conducted at extremely low temperatures, scientists have demonstrated a unique phase of matter: The atoms form a new type of quantum liquid or quantum droplet state. These so called quantum droplets may preserve their form in absence of external confinement because of quantum effects. The joint team of experimental physicists from Innsbruck and theoretical physicists from Hannover report on their findings in the journal Physical Review X.

“Our Quantum droplets are in the gas phase but they still drop like a rock,” explains experimental physicist Francesca Ferlaino when talking about the...

Im Focus: MADMAX: Max Planck Institute for Physics takes up axion research

The Max Planck Institute for Physics (MPP) is opening up a new research field. A workshop from November 21 - 22, 2016 will mark the start of activities for an innovative axion experiment. Axions are still only purely hypothetical particles. Their detection could solve two fundamental problems in particle physics: What dark matter consists of and why it has not yet been possible to directly observe a CP violation for the strong interaction.

The “MADMAX” project is the MPP’s commitment to axion research. Axions are so far only a theoretical prediction and are difficult to detect: on the one hand,...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

ICTM Conference 2017: Production technology for turbomachine manufacturing of the future

16.11.2016 | Event News

Innovation Day Laser Technology – Laser Additive Manufacturing

01.11.2016 | Event News

#IC2S2: When Social Science meets Computer Science - GESIS will host the IC2S2 conference 2017

14.10.2016 | Event News

 
Latest News

NTU scientists build new ultrasound device using 3-D printing technology

07.12.2016 | Health and Medicine

The balancing act: An enzyme that links endocytosis to membrane recycling

07.12.2016 | Life Sciences

How to turn white fat brown

07.12.2016 | Health and Medicine

VideoLinks
B2B-VideoLinks
More VideoLinks >>>