Using cancer's fingerprint, researchers clinch a diagnosis

March 5, 2014 by Leslie Orr, University of Rochester Medical Center

Rochester scientists are using a gene test to diagnose a difficult-to-detect form of bone marrow cancer – an example of how academic medical centers are applying new technology in ways that play to their strengths to achieve better patient care.

In , gene tests are used broadly to predict the course of disease or to select the best treatment. The University of Rochester School of Medicine & Dentistry group, however, has shown there's a niche role for genomics, in this case using it to differentiate a type of early leukemia from other conditions.

"To be able to tell somebody: 'We know what disease you have,' is hugely important," said W. Richard Burack, M.D., Ph.D., director of Hematopathology at UR Medicine and the James P. Wilmot Cancer Center, overseeing gene testing for all types of cancer. "This is an example of precision medicine that sets us apart from many other institutions."

The test is called a comparative genomic hybridization with single nucleotide polymorphism (CGH-SNP) analysis. The UR is licensed by New York State to use the CGH-SNP microarray testing platform.

Scientists are uniquely applying CGH-SNP tests to suspected cases of myelodysplastic syndrome. MDS occurs when the does not mature properly and can't generate enough healthy blood cells. Rochester has a long history of excellence in MDS research, led by Professor Emeritus John M. Bennett, M.D., a widely recognized pioneer in the study of MDS who served as the founder and first chair of The Myelodysplastic Syndromes Foundation.

Known as pre-leukemia, MDS is often confused with other illnesses. Symptoms such as weakness, tiredness and unexplained bruising signal a low blood count, but low counts are also associated with anemia, lupus, infection, exposure to toxins, or even poor nutrition. Routine blood work can suggest the possibility of MDS, but approximately 50 percent of cases indicate vague cell abnormalities that need further clarification.

Patients with suspected MDS usually endure an invasive bone marrow biopsy. But those results often come back as indeterminate, requiring a long "watch and wait" period before the diagnosis can be confirmed and treatment can begin, Burack said.

M. Anwar Iqbal, Ph.D., associate professor of Pathology and Laboratory Medicine and director of UR Medicine's Microarray CGH Laboratory, understood the clinical problem and designed a study to apply the CGH-SNP test to 84 bone marrow samples from patients with abnormal blood work, comparing them to 22 normal samples.

The genetic analysis of MDS is trickier than with other cancers, because instead of having just one genetic lesion, innumerable changes in the chromosomes are associated with MDS. Often the DNA errors look different in each patient, and Wilmot pathologists have become experts at discerning which genetic changes are involved in each patient's cancer.

Among the 84 samples, Iqbal's CGH-SNP analysis produced positive results for MDS in 54 cases (64 percent). Importantly, in four cases doctors would not have established an MDS diagnosis without the CGH-SNP test. The test also revealed MDS-related genetic abnormalities that would have otherwise gone undetected in three additional patients; and in 16 cases scientists learned more information about the genetic complexity of MDS.

Further studies are needed, but the microarray analysis seems to add a significant benefit that can alter medical decision-making, researchers concluded in a novel report. They were invited to present their data March 4, 2014, at the 103rd annual meeting of United States and Canadian Academy of Pathology (USCAP), the world's largest gathering of pathologists.

Explore further: The Medical Minute: What is myelodysplastic syndrome?

Related Stories

The Medical Minute: What is myelodysplastic syndrome?

June 15, 2012
Television journalist and host of "Good Morning America" Robin Roberts announced this week that she has myelodysplastic syndrome, or MDS, an uncommon blood and bone marrow disorder.

Researchers discover mechanism controlling the development of myelodysplastic

December 17, 2013
Researchers at the Moffitt Cancer Center have discovered a control mechanism that can trigger the development of myelodysplastic syndromes (MDS), a group of blood cancers. This finding may lead to therapies capable of preventing ...

Myelodysplastic syndromes (MDS) linked to abnormal stem cells

July 2, 2012
Researchers at Albert Einstein College of Medicine of Yeshiva University have found that abnormal bone marrow stem cells drive the development of myelodysplastic syndromes (MDS), serious blood diseases that are common among ...

Targeting errant immune system enzyme kills myelodysplastic cells

July 8, 2013
Scientists have successfully targeted a malfunctioning immune system enzyme to kill diseased cells from patients with myelodysplastic syndrome (MDS)—a blood disorder and precursor to leukemia.

Common blood cancer may be initiated by single mutation in bone cells

January 22, 2014
Acute myeloid leukemia (AML) is a blood cancer, but for many patients the cancer may originate from an unusual source: a mutation in their bone cells.

Age shouldn't limit access to transplants for MDS, study suggests

December 7, 2013
Patients with myelodysplastic syndromes (MDS) who were as old as 74 fared as well with stem cell transplantation as did patients in the 60-to-65 age range, according to a study from Dana-Farber Cancer Institute presented ...

Recommended for you

Researchers develop swallowable test to detect pre-cancerous Barrett's esophagus

January 17, 2018
Investigators at Case Western Reserve University School of Medicine and University Hospitals Cleveland Medical Center have developed a simple, swallowable test for early detection of Barrett's esophagus that offers promise ...

Scientists zoom in to watch DNA code being read

January 17, 2018
Scientists have unveiled incredible images of how the DNA code is read and interpreted—revealing new detail about one of the fundamental processes of life.

T-cells engineered to outsmart tumors induce clinical responses in relapsed Hodgkin lymphoma

January 16, 2018
WASHINGTON-(Jan. 16, 2018)-Tumors have come up with ingenious strategies that enable them to evade detection and destruction by the immune system. So, a research team that includes Children's National Health System clinician-researchers ...

Researchers identify new treatment target for melanoma

January 16, 2018
Researchers in the Perelman School of Medicine at the University of Pennsylvania have identified a new therapeutic target for the treatment of melanoma. For decades, research has associated female sex and a history of previous ...

More evidence of link between severe gum disease and cancer risk

January 16, 2018
Data collected during a long-term health study provides additional evidence for a link between increased risk of cancer in individuals with advanced gum disease, according to a new collaborative study led by epidemiologists ...

Researchers develop a remote-controlled cancer immunotherapy system

January 15, 2018
A team of researchers has developed an ultrasound-based system that can non-invasively and remotely control genetic processes in live immune T cells so that they recognize and kill cancer cells.

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.