ABSTRACT
Fluorescence in situ hybridization for abnormalities common to myelodysplastic syndrome (MDS FISH) is often used with traditional karyotype in the diagnosis and monitoring of myeloid neoplasms. However, its value in these roles has been questioned. To evaluate its utility, we compared MDS FISH results with karyotype in 544 bone marrow specimens obtained for diagnosis (180 cases) or follow-up (364 cases) of myeloid neoplasia. We found excellent concordance between FISH and karyotype, such that FISH is rarely abnormal (1.7% at diagnosis and 3.0% at follow-up) in cases with normal karyotype. Even in the rare discordant cases, the abnormal FISH has little or no clinical value. Thus, we propose that this test should be limited to cases with inadequate karyotype only. Such guidelines could result in significant cost savings with no impact on patient diagnosis.
Subject(s)
Chromosome Aberrations , Hematologic Neoplasms/genetics , Hematologic Neoplasms/pathology , In Situ Hybridization, Fluorescence , Myelodysplastic Syndromes/genetics , Myelodysplastic Syndromes/pathology , Adolescent , Adult , Aged , Aged, 80 and over , Bone Marrow/pathology , Disease Progression , Female , Follow-Up Studies , Hematologic Neoplasms/diagnosis , Humans , Karyotype , Karyotyping , Male , Middle Aged , Myelodysplastic Syndromes/diagnosis , Young AdultABSTRACT
OBJECTIVES: To address the overuse of testing that complicates patient care, diminishes quality, and increases costs by implementing the diagnostic management team, a multidisciplinary system for the development and deployment of diagnostic testing guidelines for hematologic malignancies. METHODS: The team created evidence-based standard ordering protocols (SOPs) for cytogenetic and molecular testing that were applied by pathologists to bone marrow biopsy specimens on adult patients. Testing on 780 biopsy specimens performed during the six months before SOP implementation was compared with 1,806 biopsy specimens performed during the subsequent 12 months. RESULTS: After implementation, there were significant decreases in tests discordant with SOPs, omitted tests, and the estimated cost of testing to payers. The fraction of positive tests increased. Clinicians reported acceptance of the new procedures and perceived time savings. CONCLUSIONS: This process is a model for optimizing complex and personalized diagnostic testing.
