Analysis of variant number of signals in the determination of translocation t(4;14)(p16.3;q32.3) using FICTION method in patients with multiple myeloma
Authors:
J. Balcárková 1; M. Mlynárčiková 1; P. Mičková 1; V. Ščudla 1,2; T. Pika 1; J. Bačovský 1; J. Minařík 1; M. Jarošová 1
Authors‘ workplace:
Hemato-onkologická klinika LF UP a FN Olomouc
1; III. interní klinika – NRE, LF UP a FN Olomouc
2
Published in:
Transfuze Hematol. dnes,22, 2016, No. 3, p. 182-188.
Category:
Comprehensive Reports, Original Papers, Case Reports
Overview
Multiple myeloma (MM) is characterized by numerous chromosomal changes of prognostic importance. One of them, associated with adverse prognosis, is translocation t(4;14)(p16.3;q32.3) resulting in deregulation of the genes MMSET and FGFR3.
The aims of the present study were to analyse IGH, FGFR3 and MMSET genes using the FICTION method in cohort of MM patients, to evaluate the frequency of translocation t(4;14) and its variant findings, clonal evolution assessment in repeatedly examined patients and assess the prognostic importance of our findings.
Using the FICTION method, we detected t(4;14) in 66 out of 533 (12.4%) patients; in 21 patients (32%) we detected variant number of t(4;14) signals (already detected in 15 out of 21 (71%) patients during standard examination of IgH gene rearrangement). FGFR3 and MMSET genes analysis proved the variant findings in 12/21 patients (57%). Additional cytogenetic abnormalities were detected in all patients with variant number of t(4;14) signals, the most frequent being 13q deletion and 1q21 gain. Nine patients were repeatedly examined and clonal evolution was observed in 3 patients.
Our results suggest prevailing heterogeneity of FICTION findings of t(4;14) and that the changes in the number of signals of IgH gene, primarily caused by deletions, can mask translocation. Therefore, we believe it as necessary to use the specific translocation probe. Although the variant translocation findings do not confirm the statistical significance of the results in terms of overall patient survival, our results show that given the prognostic significance of translocation t(4;14) overlooked changes can have a significant bearing on the therapeutic approach.
KEY WORDS:
multiple myeloma – chromosomal changes – translocation t(4;14)(p16.3;32.3) – FICTION
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