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Original Article

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Korean J Hematol 2010; 45(3):

Published online September 30, 2010

https://doi.org/10.5045/kjh.2010.45.3.171

© The Korean Society of Hematology

Clinical utility of FISH analysis in addition to G-banded karyotype in hematologic malignancies and proposal of a practical approach

Won Kyung Kwon1, Jin Young Lee1, Yeung Chul Mun2, Chu Myong Seong2, Wha Soon Chung1, and Jungwon Huh1*

Author Info. +

1Department of Laboratory Medicine, Ewha Womans University School of Medicine, Seoul, Korea.

2Department of Internal Medicine, Ewha Womans University School of Medicine, Seoul, Korea.

Correspondence to : Correspondence to Jungwon Huh, M.D., Ph.D. Department of Laboratory Medicine, Ewha Womans Universitiy School of Medicine, Mokodong Hospital, 911-1, Mokdong, Yangcheon-gu, Seoul 158-710, Korea. Tel: +82-2-2650-5320, Fax: +82-2-2650-5091, JungWonH@ewha.ac.kr

Received: June 14, 2010; Revised: August 24, 2010; Accepted: September 10, 2010

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

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Background

Fluorescence in situ hybridization (FISH) analysis can provide important information in the management of patients with hematologic malignancies. However, FISH performed in addition to G-banded karyotype can be labor-intensive and expensive. The aim of this study was to evaluate whether FISH gives additional information in the setting of adequate conventional cytogenetics in cases of hematologic malignancies.

Methods

Bone marrow aspirates were obtained from 135 patients at diagnosis (56 AML, 32 MDS, 20 ALL, and 27 MM) between 2005 and 2010. Interphase FISH was performed using the following probes: BCR/ABL1, AML1/ETO, PML/RARA, CBFB, MLL, EGR1, CEP8, and D7S486 for AML; CEP8, D20S108, EGR1, and D7S486 for MDS; BCR/ABL1, MLL, CDKN2A (p16), ETV6, and 6q21/c-myc for ALL; IgH, TP53, D13S25, IgH/CCND1, IgH/MAF, IgH/FGFR3, and 1q21/8p21 for MM. We compared the results of FISH with the corresponding aberrations identified by G-banded karyotype.

Results

Additional genetic aberrations detected by FISH (which were not identified by G-banded karyotype) were 4%, 9%, 50%, and 67% in AML, MDS, ALL, and MM, respectively. In ALL, CDKN2A and ETV6 FISH revealed additional genetic aberrations in 33% and 28% of cases, respectively. In MM, FISH was of benefit in detecting IgH, D13S25, TP53, and 1q21 rearrangements, not detected by G-banded karyotype (31%, 36%, 20%, and 40%, respectively).

Conclusion

These results suggest that performing FISH in addition to G-banded karyotype may contribute little additional genetic information in AML and MDS, whereas routine FISH analysis appears to be an efficient screening method in ALL and MM.

Keywords FISH, Karyotype, Acute myeloid leukemia, Myelodysplastic syndrome, Acute lymphoblastic leukemia, Multiple myeloma

Article

Original Article

Korean J Hematol 2010; 45(3): 171-176

Published online September 30, 2010 https://doi.org/10.5045/kjh.2010.45.3.171

Copyright © The Korean Society of Hematology.

Clinical utility of FISH analysis in addition to G-banded karyotype in hematologic malignancies and proposal of a practical approach

Won Kyung Kwon1, Jin Young Lee1, Yeung Chul Mun2, Chu Myong Seong2, Wha Soon Chung1, and Jungwon Huh1*

1Department of Laboratory Medicine, Ewha Womans University School of Medicine, Seoul, Korea.

2Department of Internal Medicine, Ewha Womans University School of Medicine, Seoul, Korea.

Correspondence to: Correspondence to Jungwon Huh, M.D., Ph.D. Department of Laboratory Medicine, Ewha Womans Universitiy School of Medicine, Mokodong Hospital, 911-1, Mokdong, Yangcheon-gu, Seoul 158-710, Korea. Tel: +82-2-2650-5320, Fax: +82-2-2650-5091, JungWonH@ewha.ac.kr

Received: June 14, 2010; Revised: August 24, 2010; Accepted: September 10, 2010

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

Fluorescence in situ hybridization (FISH) analysis can provide important information in the management of patients with hematologic malignancies. However, FISH performed in addition to G-banded karyotype can be labor-intensive and expensive. The aim of this study was to evaluate whether FISH gives additional information in the setting of adequate conventional cytogenetics in cases of hematologic malignancies.

Methods

Bone marrow aspirates were obtained from 135 patients at diagnosis (56 AML, 32 MDS, 20 ALL, and 27 MM) between 2005 and 2010. Interphase FISH was performed using the following probes: BCR/ABL1, AML1/ETO, PML/RARA, CBFB, MLL, EGR1, CEP8, and D7S486 for AML; CEP8, D20S108, EGR1, and D7S486 for MDS; BCR/ABL1, MLL, CDKN2A (p16), ETV6, and 6q21/c-myc for ALL; IgH, TP53, D13S25, IgH/CCND1, IgH/MAF, IgH/FGFR3, and 1q21/8p21 for MM. We compared the results of FISH with the corresponding aberrations identified by G-banded karyotype.

Results

Additional genetic aberrations detected by FISH (which were not identified by G-banded karyotype) were 4%, 9%, 50%, and 67% in AML, MDS, ALL, and MM, respectively. In ALL, CDKN2A and ETV6 FISH revealed additional genetic aberrations in 33% and 28% of cases, respectively. In MM, FISH was of benefit in detecting IgH, D13S25, TP53, and 1q21 rearrangements, not detected by G-banded karyotype (31%, 36%, 20%, and 40%, respectively).

Conclusion

These results suggest that performing FISH in addition to G-banded karyotype may contribute little additional genetic information in AML and MDS, whereas routine FISH analysis appears to be an efficient screening method in ALL and MM.

Keywords: FISH, Karyotype, Acute myeloid leukemia, Myelodysplastic syndrome, Acute lymphoblastic leukemia, Multiple myeloma

Fig 1.

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Figure 1.

Proposal for a cost-effective utilization of FISH in hematologic malignancies (*corresponded to specific chromosomal abnormalities identified by G-banded karyotype).

Blood Research 2010; 45: 171-176https://doi.org/10.5045/kjh.2010.45.3.171

Table 1 . Patient characteristics..

a)Included 18 AML with recurrent chromosomal abnormalities [t(8;21) (n=6), t(15;17) (n=8), inv(16) (n=3), MLL (n=1)], 4 AML with myelodysplasia-related changes, and 34 AML, NOS, b)Included refractory cytopenia with unilineage dysplasia (n=16), refractory cytopenia with multilineage dyaplasia (n=13), refractory anemia with excess of blasts (n=2), MDS-unclassifiable (n=1), c)Included B-lineage (n=15), T-lineage (n=4), mixed phenotype acute leukemia (n=1)..

Abbreviations: AML, acute myeloid leukemia; MDS, myelodysplastic syndrome; ALL, acute lymphoblastic leukemia; MM, multiple myeloma..

Table 2 . Abnormalities detected by FISH in addition to G-banded karyotype..

Abbreviation: FISH, fluorescence in situ hybridization. see Table 1..

Table 3 . Additional genetic aberrations identified by FISH in ALL..

Abbreviations: FISH, fluorescence in situ hybridization; ALL, acute lymphoblastic leukemia..

Table 4 . Additional genetic aberrations identified by FISH in MM..

Abbreviations: FISH, fluorescence in situ hybridization; MM, multiple myeloma..
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