Quality Assurance/Quality Control of Fluorescence in Situ Hybridization Tests in Hematologic Malignancies

Abstract

Because of its' simplicity, reliability and cost-effectiveness, fluorescence in situ hybridization (FISH) is a major technology that is widely applied in clinical diagnosis, especially for hematologic malignancies, even in the era of next-generation sequencing (NGS). In the Clinical Cytogenetics Laboratory at MD Anderson Cancer Center, over 15,000 FISH tests are performed each year, including approximately 1,000 BCR-ABL1 and 500 MYC FISH tests, respectively. In this chapter, we introduce the quality assurance/quality control (QA/QC) measurements applied for FISH tests by following the American College of Medical Genetics and Genomics (ACMGG) technical standards and guidelines. We believe that these measurements are essential for high-quality clinical diagnosis services provided by a clinical laboratory. The BCR-ABL1 FISH test using a commercial fusion probe set on cell suspensions of bone marrow (BM) and peripheral blood (PB) specimen and MYC FISH test using a commercial break-apart probe on paraffin-embedded tissue specimen are shown here as

Redefining the high‐grade B cell lymphoma with double/triple rearrangements of MYC and BCL2/BCL6 genes. Learning from a case report

“…Moreover, in our hands, 1F and 1R dot signals were a consequence of PVT1 gene deletion, and in contrast to what Tang et al. [ 4 ] described it is not indicative of MYC gene translocation. These data highlight the need for consensus guidelines of interpretation of MYC FISH studies (Figure 1 ).…”

“…Nowadays, the fluorescence in situ hybridization (FISH) study with break‐apart probes for MYC is the standard diagnostic method in pathology laboratories, although a relatively high rate of false‐negative results, is commonplace [ 1 , 2 , 3 ]. Moreover, there is no consensus on the FISH pattern required to classify a case as translocated: even though single yellow and separate red and green dots are typically found in a translocated case; other combinations are also regarded as positive by most experts [ 4 ].…”