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Chronic Myeloid Leukemia Patients Benefit from Ultrasensitive Molecular...

By studying and evaluating the chromosomal abnormality that causes Chronic Myeloid Leukemia, researchers have developed a superior method for detecting and quantifying the disease in its scantest quantities. This ultrasensitive test, called "RQ-PCR," is good news for CML patients, as it allows for the earliest possible diagnosis, the fastest detection of residual disease after treatment, and the most accurate method for monitoring patients in remission.

"The outlook for patients with Chronic Myeloid Leukemia has improved vastly over the past several years, thanks to both the development of more effective treatments and the discovery of more comprehensive testing methods like RQ -PCR," explains Shashi Pawar PhD, DABMG, a leading genetics expert with Acupath Laboratories in New York. "Improvements in the sensitivity of this test allow us to identify abnormalities in the very initial stage of the disease, which can mean a better prognosis for patients," Dr. Pawar adds.

The CML Chromosome Connection

Chronic Myeloid Leukemia was the first cancer ever to be determined to be caused by a chromosomal anomaly. The disease is centered in the bone marrow and marked by an abnormally-short Chromosome 22, which is known as the "Philadelphia Chromosome (Ph1)," since researchers first discovered it there in 1960. What's more, the disease is also linked to a fusion of one of the Philadelphia Chromosome's genes (ABL) with a gene in Chromosome 9 (BCR). The shortened Chromosome 22, coupled with the identification of what's called "BCR/ABL fusion," are the markers that help pathologists establish the presence of CML.

"The value of the RQ-PCR test is that it can detect the presence of the Philadelphia Chromosome, as well as quantify how many cells are affected by the mutation," notes Dr. Pawar. "RQ-PCR is also more sensitive than FISH and other testing at detecting the BCR/ABL genetic translocation," he adds.

Quantifying the extent of Ph1 is critical, Dr. Pawar continues. "As a diagnostic tool, this test can tell us at which stage we have discovered the malignancy by the proliferation of the Philadelphia Chromosome," he says, adding, "And because many of today's most successful treatments can ultimately rectify this chromosomal abnormality, the test is an effective tool for monitoring response to treatment and remission status in patients."

CML: From a dismal diagnosis to a promising prognosis

Chronic Myeloid Leukemia is a relatively uncommon diagnosis, affecting approximately 5,000 Americans each year - mostly adults in their 40s and 50s. However, it has a well-earned reputation as a dismal diagnosis nonetheless. Just a few years ago, the median survival rate was just three years, with a five-year survival rate of less than 20%. However, recent research has focused on developing "targeted" therapies that attack the chromosomal and genetic causes of CML, and these treatments have shown promise for the future of CML. For instance, the advent of a highly effective treatment called Gleevac (Imatinib) - which works to rectify the BCR/ABL genetic translocation in the earliest stage of the disease (called the chronic stage) and arrest its progression - has improved the outlook for CML patients. Today, the median survival rate is over five years, with a five-year survival rate of 60%. In fact, a 2007 clinical analysis of numerous studies, researchers found that Gleevac treatment kept 90% of CML patients in the chronic stage of the disease for five years or longer.

"Advanced molecular testing methodologies that keep pace with and complement the growing body of effective new treatment modalities are the key to providing hope for patients struggling with even the most difficult diagnoses," Dr. Pawar concludes.

About Acupath:

Acupath Laboratories, Inc. is an innovative national specialty medical laboratory located twenty miles east of Manhattan in Plainview NY. Acupath's reputation is built on the foundation of our nationally recognized board certified pathologists, molecular geneticists, and cytogeneticists leaders in their fields; many have sub-specialty certification. Acupath performs only pathology, molecular and cytogenetic exams; ensuring the highest standards in the industry.

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