Acacia Research Corporation has announced that its CombiMatrix group’s subsidiary, CombiMatrix Molecular Diagnostics (CMDX), has completed the clinical validation and launched the second of its HemeScan™ suite of BAC (Bacterial Artificial Chromosome) array CGH (Comparative Genomic Hybridization) based tests.
The test is designed to evaluate tumor genomic content (ploidy), a strong predictor of clinical outcome in pediatric and adult acute lymphoblastic leukemia (ALL). This test is now available to the clinical community through both routine clinical sample processing as well as through CMDX’s innovative Technical Only Program for reference laboratories. The HemeScan tests are the industry’s first clinically validated cancer diagnostics based on BAC array CGH technology.
Several thousand cases of ALL are diagnosed each year in the United States. The majority of cases occur in children and adolescents with an incidence rate in the 1 to 4 year old age group, almost 10 times that of young adults. The overall cure rate for ALL in children has improved dramatically in the past decade due in large measure to the application of improved chemotherapeutic agents combined with risk-adapted therapy based on prognostic factors.
However, in adults the importance of tumor genomic content as a prognostic indicator has only recently been shown to be an important predictor of clinical outcome.
Recent studies have shown that patients with hyperdiploid ALL (> 50 chromosomes per leukemia cell) have a generally favorable prognosis, particularly those with extra copies of chromosomes 4, 10 and 17.
Conversely the finding of a hypodiploid genome (< 45 chromosomes per leukemia cell) confers a poor prognosis warranting more aggressive therapy choices. In addition to whole chromosome gains and losses, a number of specific recurrent genomic copy number changes involving genes associated with tumorogenesis such as deletion of the CDKN2A tumor suppressor gene on chromosome 9p and complex karyotypes (> 5 genomic rearrangements) have prognostic significance in ALL.
HemeScan is designed to give clinicians an overview of genome ploidy and identify the specific chromosomes gained and lost in the ALL tumor genome. At the same time HemeScan identifies the known prognostic genomic imbalances relevant to the clinical course of ALL.
When used in conjunction with FISH (Fluorescence in-situ Hybridization) for identification of clinically relevant balanced translocations, HemeScan provides an innovative alternative to time consuming and laborious traditional cytogenetic methods for enumerating chromosomal content of a tumor genome.