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Lee, Lee, Hong, Hong, and Chang: Correlation of Chromosomal Aberrations with Prognostic Markers in Multiple Myeloma Patients-A Single Institution Study
Original Article

Korean J Lab Med 2008;28(6):413-418.

Published online: 14 February 2008

DOI: https://doi.org/10.3343/kjlm.2008.28.6.413

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

Ji Won Lee, M.D., Jin Kyung Lee, M.D., Young Joon Hong, M.D., Seok-Il Hong, M.D., Yoon Hwan Chang, M.D.

Department of Laboratory Medicine, Korea Cancer Center Hospital, Seoul, Korea

Corresponding author: Yoon Hwan Chang, M.D. Department of Laboratory Medicine, Korea Cancer Center Hospital, 75 Nowon-gil, Nowon-gu, Seoul 139-706, Korea Tel: +82-2-970-1283, Fax: +82-2-973-7143 E-mail: cyhlabo@kcch.re.kr

Received 18 June 200827 August 2008       Accepted 21 September 2008

Copyright © 2008 by the Korean Society for Laboratory Medicine

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

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 significantly higher bone marrow plasma cell percentage and β2-microglobulin level.

Conclusions

Statistical correlation between the presence of trisomy 1q and prognostic markers suggests that the evaluation of trisomy 1q in multiple myeloma patients may be used for the indirect assessment of prognosis in these patients.

Keywords: Multiple myeloma, Cytogenetic abnormalities, Trisomy 1q

REFERENCES

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Table 1.
Clinical and laboratory data of 41 patients with newly diagnosed multiple myeloma
Characteristics N of Patients Percentage Characteristics N of Patients Percentage
Sex     Albumin (g/dL)    
 Male 24 58.5  ≤3.5 14 34.1
 Female 17 41.5  >3.5 27 65.9
Age (years)     Creatinine (mg/dL)    
 ≤60 22 53.7  ≤2 33 80.5
 >60 19 46.3  >2 8 19.5
Stage∗     Calcium (mg/dL)    
 IIa 6 14.6  ≤11.5 41 100
 IIb 0 0  >11.5 0 0
 IIIa 27 65.9 Bone marrow plasma cells (%)    
 IIIb 8 19.5  <30 18 43.9
β2-microblobulin (μg/mL)      ≥30 23 56.1
 ≤3.5 23 56.1 Protein type    
 >3.5 18 43.9  IgG/A/D 16/7/1 39.0/17.1/2.4
Hemoglobin (g/dL)      light chain (κ/λ) 6/6 14.6/14.6
 ≤10 15 36.6  Unknown 5 12.2
 >10 26 63.4 CRP (mg/dL) (N=34†)    
Platelet (/μL)      ≤0.5 19 55.9
 ≤150,000 5 12.2  >0.5 15 44.1
 >150,000 36 87.8 Osteolytic lesions    
Serum M-protein (g/dL)      Positive (scale 1-3) 39 95.1
 ≤3 23 56.1  Negative (scale 0) 2 4.9
 >3 18 43.9      

∗ Durie-Salmon stage;

† No data were available for the remaining patients.

Table 2.
Results of conventional karyotyping and corresponding interphase FISH in 41 patients with multiple myeloma
Karyotyping FISH End results N of cases
N N N 1
not tested N N 8
N not tested N 2
P not tested P 2
P P P  
N P P  
not tested P P 4
6/29 (20.7%) 14/37 (37.8%) 16/41 (39.0%)  

Abbreviations: P, positive; N, negative.

Table 3.
Abnormal karyotypes and corresponding interphase FISH results of the patients with multiple myeloma
No. Case Abnormal karyotype FISH
IGH/CCND1 translocation Trisomy 1q 13q14 deletion
1 44,X,-Y,del(1)(p13p22),-13,-14,del(16)(q24),-19,+mar1,mar2[8]/86,idemx2,-mar2×2[2]/46,XY[10] P N P
2 41,X,-X,+1,dic(1;2)(p13;p13),der(4)t(q11;p16),add(7)(p13),-11,-13,-14,-20,der(21;22)(q10;q10),+mar[2]/46,XX[18] N P P
3 53,XY,t(1;8)(p13;q241),+der(1)t(1;8)(p13;q24.1),+der(1)t(1;8)(p13;q24.1),+3,+7,der(8)t(8;?)(p11.2;?),+9,+11,-13,+18,+mar[16]/46,XY[4] not tested not tested not tested
4 47,XX,+mar[5]/46,XX[5] P N N
5 45,X,-Y[20] N P N
6 45,X,-Y[3]/46,XY[17] not not not
    tested tested tested

Abbreviations: See Table 2.

Table 4.
Interphase FISH results of three kinds of cytogenetic abnormalities in 37 patients with newly diagnosed multiple myeloma
IGH/CCND1 translocation Trisomy 1q 13q14 deletion N of case
P P P 1
P P N 2
P N P 1
N P P 2
P N N 4
N P N 3
N N P 1
8/37 (21.6%) 8/37 (21.6%) 5/37 (13.5%) 14/37 (37.8%)

Abbreviations: See Table 2.

Table 5.
Correlation of cytogenetic abnormalities with routine laboratory tests in patients with newly diagnosed multiple myeloma
    Parameters
Hemoglobin (mean [SD] g/dL) β2-MG (mean [SD] μg/mL) BM plasma cells (mean [SD]%)
cytogenetic abnormalities Negative group (N=25) 11.43 (2.14) 4.70 (5.92) 27.03 (25.11)
(FISH & Conventional Karyotyping) Positive group (N=16) 9.96 (1.25) 5.54 (3.74) 47.16 (22.16)
    P=0.017 P=0.71 P=0.008
IGH/CCND1 translocation (FISH) Negative group (N=29) 11.01 (2.23) 5.09 (5.61) 31.98 (25.98)
  Positive group (N=8) 10.21 (0.81) 5.71 (4.75) 45.41 (20.11)
    P=0.190 P=0.518 P=0.101
Trisomy 1q (FISH) Negative Group (N=29) 11.22 (2.01) 4.75 (5.53) 27.78 (22.35)
  Positive group (N=8) 9.45 (1.47) 6.95 (4.71) 60.63 (17.34)
    P=0.040 P=0.030 P=0.001
13q14 Deletion (FISH) Negative group (N=32) 11.00 (2.10) 5.33 (5.72) 31.91 (20.56)
  Positive group (N=5) 9.84 (1.07) 4.52 (2.56) 53.94 (20.56)
    P=0.182 P=0.739 P=0.053

Abbreviations: MG, microglobulin; BM, bone marrow.

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