FISH Detects Chromosome Abnormalities associated with Plasma Cell Malignancies

Plasma cell proliferative disorders (PCPDs) account for approximately 10% of all blood-borne cancers that range from the very slow-growing smoldering myeloma to a very aggressive plasma cell leukemia. A study has found that fluorescence in situ hybridization (FISH) was better than conventional methods in identifying chromosomal genetic abnormalities associated with plasma cell malignancies. This improved chromosomal analysis may help physicians better assess a patient's prognosis and likelihood to respond to a given treatment.

In the study, which was conducted by the Mayo Clinic (Rochester, USA), FISH detected chromosomal abnormalities in 67% of 1,548 patients with suspected PCPD. Conventional chromosomal analysis detected abnormalities in only 10% of the same patients. The FISH test is designed to detect genetic abnormalities in plasma cells whereas other conventional methods typically look within any cell type that is present, reported the lead author of the study, Rhett Ketterling, M.D., a Mayo Clinic pathologist and geneticist who specializes in chromosomes and chromosomal abnormalities.

"This test is a marked improvement over conventional chromosomal analysis and has become readily accepted into the diagnostic algorithm in patients with PCPD at Mayo Clinic and at other leading academic institutions,” Dr. Ketterling said. "Our results show that a targeted plasma-cell specific FISH analysis is an important method for detecting common genetic abnormalities typically seen in patients with multiple myeloma.” The test should be applied to patients diagnosed with PCPD, particularly multiple myeloma, to determine the presence of genetic abnormalities that could offer insight into prognosis, he added.

The Mayo Clinic study was presented at the annual meeting of the American Society of Human Genetics in San Diego (CA, USA) in October 2007.


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