Tag Archives: Comprehensive

New simple test for prostate cancer

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A urine test could soon help doctors detect prostate cancer early and better evaluate a patient”s treatment options, according to a new study involving an Indian-origin scientist.

Prostate cancer screening is currently based on a blood test to detect prostate-specific antigen (PSA). But that test often produces false results and leads to unnecessary biopsies.

The new test developed by the University of Michigan Comprehensive Cancer Center and the Michigan Center for Translational Pathology appears to be better at detecting prostate cancer, and could help some men delay or avoid a needle biopsy while pointing out men at highest risk for clinically significant prostate cancer.

The test looks for a genetic anomaly that occurs in about half of all prostate cancers, an instance of two genes changing places and fusing together.

This gene fusion, TMPRSS2:ERG, is believed to cause prostate cancer.

Prostate cancer cells

Prostate cancer cells

Studies in prostate tissues show that the gene fusion almost always indicates cancer. But because the gene fusion is present only half the time, the researchers also included another marker, PCA3. The combination was more predictive of cancer than either marker alone.

“Testing for TMPRSS2:ERG and PCA3 significantly improves the ability to predict whether a man has prostate cancer,” said lead author Scott Tomlins, M.D., Ph.D., a pathology resident at the U-M Health System.

“We think this is going to be a tool to help men with elevated PSA decide if they need a biopsy or if they can delay having a biopsy and follow their PSA and urine TMPRSS2:ERG and PCA3,” he added.

The researchers looked at urine samples from 1,312 men at three academic medical centers and seven community-based hospitals. The men all had elevated PSA levels and had gone on to receive either a biopsy or prostatectomy, surgery to remove their prostates.


The researchers evaluated the urine samples for TMPRSS2:ERG and PCA3 and stratified patients into low, intermediate and high scores, indicating their risk of cancer. They then compared this to biopsy results.

Biopsies indicated cancer in 21 percent of men from the low-score group, 43 percent in the intermediate group and 69 percent in the high group.

Further, the urine test scores correlated with how aggressive the cancer was.

“Many more men have elevated PSA than actually have cancer but it can be difficult to determine this without biopsy. This test will help in this regard. The hope is that this test could be an intermediate step before getting a biopsy,” said senior study author Arul Chinnaiyan, M.D., Ph.D., director of the Michigan Center for Translational Pathology and S.P. Hicks Professor of Pathology at the U-M Medical School.

Ankylosing spondylitis gene breakthrough

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“A genetic breakthrough into the causes of an incurable spine condition could help tens of thousands of young people to avoid pain and disability”, reports The Independent.

The news story is based on a study that looked for genetic variations associated with the disease ankylosing spondylitis, a type of chronic (long-term) arthritis that affects parts of the spine. Researchers carried out a genome-wide association study, looking at which genetic variations were more common in people with the condition than in those without it.

This study identified several new genetic variants associated with the disease. It also confirmed the associations in variants in six other locations found in previous studies. The researchers also began to look at which genes near to these variants may be playing a role. The next step will be to confirm which genes in these nine locations are playing a role in the disease.

Identifying genes that contribute to causing ankylosing spondylitis will help researchers to understand the biology of this disease better. This knowledge may in time suggest new approaches for treating the condition. However, this is not guaranteed, and it will not be a quick process because such advances will take time.

The study was carried out by researchers from The Australo-Anglo-American Spondyloarthritis Consortium and the Wellcome Trust Case Control Consortium 2. Funding was provided by a variety of sources, including Arthritis Research UK, the Wellcome Trust and the Oxford Comprehensive Biomedical Research Centre. The study was published in the peer-reviewed scientific journal Nature Genetics.

Ankylosing spondylitis

Ankylosing spondylitis

This story was covered in The Times and The Independent. Both articles delivered balanced coverage, but could have benefited from some guidance on how long it may take for these findings to develop into actual treatments.

The aim of this genome-wide association study was to identify genes that are related to the condition ankylosing spondylitis, a type of chronic (long-term) arthritis that affects parts of the spine.

Ankylosing spondylitis has a strong genetic component, i.e. a person’s genetics determine to a large extent whether they have the condition. Exactly which genes play a role is not yet fully understood, although it has been associated with the HLA-B27 gene. This gene encodes a protein that is involved in promoting an immune system response. However, only 1-5% of people who carry the HLA-B27 gene develop ankylosing spondylitis, and there is strong evidence from studies of the distribution of the disease in the population to suggest that other genes are involved. This study aimed to identify some of these other genes.

The researchers confirmed several genetic variations that previous studies had associated with the disease, near the genes HLA-B, ERAP1, IL23R, KIF21B or in areas on chromosome 2 or 21 where there were no known genes. In addition, the researchers identified variations in three new positions of the DNA, which showed very strong associations with ankylosing spondylitis. These variations were near to the genes RUNX3, LTBR-TNFRSF1A and IL12B. A further four variations were also found near to the genes PTGER4, TBKBP1, ANTXR2 and CARD9, which showed strong association.

The researchers examined what proteins are produced by some of the genes in the identified regions, and what they do in the body. They found that RUNX3 encodes a protein that is needed to form a certain type of immune cell that individuals with ankylosing spondylitis have less of. They also found that the gene PTGER4 encodes a protein that is thought to play a role in bone strengthening in response to stress (in ankylosing spondylitis new bone is formed inappropriately, causing the bones of the spine to fuse).


The researchers also investigated whether there were any interactions between genetic regions that were established as being associated with ankylosing spondylitis and the newly identified regions. They found that in people who carried the variation in the HLA-B27 gene, those who also carried the variation in ERAP1 were more likely to have ankylosing spondylitis. However, this association between the variation in ERAP1 and ankylosing spondylitis was not seen in people who did not carry HLA-B27.

The other newly identified genetic variations were associated with ankylosing spondylitis, independent of HLA-B27 status.

The researchers conclude that their findings have increased the number of genetic locations that are convincingly associated with ankylosing spondylitis. Each location contains genes that appear to have biological functions that are feasibly connected to ankylosing spondylitis.

Identifying genes that contribute to causing ankylosing spondylitis will help researchers to understand better the biology of this disease. This knowledge may suggest new approaches to treating the condition. However, this is not guaranteed and will not be a quick process as such advances will take time.