Korean J Hematol.  2010 Sep;45(3):171-176. 10.5045/kjh.2010.45.3.171.

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

• Kwon WK
• Lee JY
• Mun YC
• Seong CM
• Chung WS
• Huh J

• KMID: 2252058
• DOI: http://doi.org/10.5045/kjh.2010.45.3.171

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.

Keyword

FISH; Karyotype; Acute myeloid leukemia; Myelodysplastic syndrome; Acute lymphoblastic leukemia; Multiple myeloma

MeSH Terms

Bone Marrow
Cytogenetics
Fluorescence
Hematologic Neoplasms
Humans
In Situ Hybridization
Interphase
Karyotype
Leukemia, Myeloid, Acute
Mass Screening
Multiple Myeloma
Myelodysplastic Syndromes
Precursor Cell Lymphoblastic Leukemia-Lymphoma

Figure

• 

  Fig. 1 Proposal for a cost-effective utilization of FISH in hematologic malignancies (*corresponded to specific chromosomal abnormalities identified by G-banded karyotype).

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