Comparison between Conventional Cytogenetics and Interphase Fluorescence in situ Hybridization (FISH) for Patients with Multiple Myeloma

Abstract

Background: For patients with multiple myeloma (MM), different strategies are used to detect chromosomal abnormalities (CA). There have been a few studies that have directly compared FISH with conventional cytogenetics (CC) for the detection of CA. In this study, we employed a combined approach of metaphase cytogenetics and interphase FISH to investigate the genetic basis for the great heterogeneity observed in the clinical behavior of 28 MM patients. Methods: Cytogenetic analysis was performed via traditional metaphase karyotype analysis. The FISH studies were done using DNA probes to detect translocations involving the immunoglobulin heavy chain gene (IGH) at 14q32 and deletions of 17p13.1 and 13q14. Results: CA were detected by CC in 16 patients (57.1%) and by FISH in 14 patients (50.0%) of the 28 patients we studied. 14q32 abnormalities and deletion abnormalities of 13q14 and 17p13.1 were detected by CC in five patients (17.9%), three patients (10.7%) and no patients (0%), respectively and these were detected by FISH in 12 (42.8%), four (14.3%) and five (17.8%), respectively, of the 28 patients we studied. The median follow-up timefor the patients was 23.85 months (range: 0.3∼58.13 months). On the univariate and multivariate analyses, none of the abnormalities detected by cytogenetics and interphase FISH affected survival. Conclusion: On comparing the cytogenetics and interphase FISH results, we can suggest that both studies should be an essential part of the workup for the diagnosis of patients with MM. Also, both studies may complement each other to predict the prognosis.

A retrospective analysis of cytogenetic alterations in patients with newly diagnosed multiple myeloma: a single center study in Korea

“…These different detection rates can arise from multiple factors such as tumor heterogeneity, the stages of the patients studied, the cell-culture techniques used to obtain metaphase cells, and variations in the interpretation of the data. Our observed abnormality rate was high, although lower than the previously obtained rate (57.1%) from the same institution [ 17 ].…”

Variant Burkitt-type translocation (8;22)(q24;q11) in plasma cell myeloma

“…Complex karyotypes are seen in 30 to 50% of plasma cell myeloma. Abnormal karyotypes are more often seen in advanced diseases, and are associated with increasing proliferative activity of malignant cells and poor outcome [ 1 , 6 ]. Poor-risk genetic abnormalities, such as the presence of t(14;16), t(14;20), del(13), t(4;14), and del(17p), are associated with significantly shorter event-free survival, overall survival, and duration of response [ 6 ].…”

“…Plasma cell myeloma accounts for 10% of hematological neoplasms, and it has a median survival of 2-3 years [1, 2]. Abnormal karyotypes are observed in about 30-50% of plasma cell myelomas, and are usually associated with aggressive disease courses.…”

“…Plasma cell myeloma is a B-cell clonal malignancy that is characterized by the accumulation of terminally differentiated plasma cells, which features monoclonal gammopathy, hypercalcemia, renal failure, anemia, and osteolytic bone lesions. Plasma cell myeloma accounts for 10% of hematological neoplasms, and it has a median survival of 2-3 years [ 1 , 2 ]. Abnormal karyotypes are observed in about 30-50% of plasma cell myelomas, and are usually associated with aggressive disease courses.…”