Correlation of Chromosomal Aberrations with Prognostic Markers in Multiple Myeloma Patients-A Single Institution Study

Abstract

Background : Immunoglobulin heavy chain (IGH) gene rearrangement, 13q14 deletion and trisomy 1q are frequently observed in Korean patients with multiple myeloma. The purpose of our study was to analyze the statistical correlation between chromosomal aberrations and routine laboratory test results as prognostic markers and to evaluate the potential of chromosomal aberrations for the indirect assessment of prognosis in multiple myeloma patients.Methods : We investigated the prevalence of cytogenetic aberrations in 41 patients with newly diagnosed multiple myeloma. Cytogenetic analysis was conducted by conventional karyotyping and FISH for the presence of IGH/CCND1 translocation, 13q14 deletion, and trisomy 1q using bone marrow aspirates. The records of routine laboratory tests were reviewed and their correlation with cytogenetic abnormalities was investigated.Results : Sixteen (39.0%) of 41 patients had at least one cytogenetic abnormalities in conventional karyotyping or FISH. In FISH analysis of 37 patients, 8 (21.6%) showed positive result for IGH/CCND1 translocation, 8 (21.6%) for trisomy 1q, and 5 (13.5%) for 13q14 deletion. Cytogenetic abnormalities, especially trisomy 1q, were associated with significantly lower hemoglobin level and significant-

Cytogenetic classification in Korean multiple myeloma patients: prognostic significance of hyperdiploidy with 47–50 chromosomes and the number of structural abnormalities

“…Chromosomal abnormalities in MM are typically complex and are characterized by alterations in both number and structure. In this study, an abnormal karyotype was found in 42.3% of the patients (222 of 525), which is similar to the findings (38–66%) of previous reports . We also showed that numeric and structural abnormalities go hand in hand.…”

“…In MM, an abnormality of chromosome 1 was common, and most of these abnormalities were 1q amplifications. Previous studies have reported that the frequency of the 1q amplification is 16–45% . A total of 48 patients (21.6%) had 1q amplification, which is similar to the frequency found in previous reports.…”

“…Lee et al . reported that trisomy 1q was related to a lower hemoglobin level, a higher plasma cell burden, and a higher B2M level, suggesting that trisomy 1q is related to poor clinical outcomes . We also confirmed that the 1q amplification was related to such findings.…”

“…We also showed that numeric and structural abnormalities go hand in hand. Chromosome 13 deletion (−13q) was the most commonly observed chromosomal abnormality . In this study, −13q was observed in 122 patients (23.2% of the entire cohort and 55.0% of the abnormal karyotype cohort) and was the most frequently observed abnormality.…”

Clinical Utility of a Diagnostic Approach to Detect Genetic Abnormalities in Multiple Myeloma: A Single Institution Experience

“…This detection frequency was higher than that observed using conventional cytogenetics alone (45%, 120/267), suggesting that FISH can be a far more sensitive method for detecting genetic changes in MM. The detection frequencies obtained with conventional cytogenetics are similar to that reported (21–42%) in previous Korean studies [ 12 13 14 15 ]. Genetic abnormalities detected by FISH range from 38% to 86% [ 12 13 14 15 ], which might depend on the number of probes tested in these studies.…”