During the last decade not only multicolor fluorescence in situ hybridization (FISH) using whole chromosome paints as probes, but also numerous chromosome banding techniques based on FISH have been developed for the human and for the murine genome. This review focuses on such FISH-banding techniques, which were recently defined as ‘any kind of FISH technique, which provide the possibility to characterize simultaneously several chromosomal subregions smaller than a chromosome arm. FISH-banding methods fitting that definition may have quite different characteristics, but share the ability to produce a DNA-specific chromosomal banding’. While the standard chromosome banding techniques like GTG lead to a protein-related black and white banding pattern, FISH-banding techniques are DNA-specific, more colorful and, thus, more informative. For some, even high-resolution FISH-banding techniques the development is complete and they can be used for whole genome hybridizations in one step. Other FISH-banding methods are only available for selected chromosomes and/or are still under development. FISH-banding methods have successfully been applied in research in evolution- and radiation-biology, as well as in studies on the nuclear architecture. Moreover, their suitability for diagnostic purposes has been proven in prenatal, postnatal and tumor cytogenetics, indicating that they are an important tool with the potential to partly replace the conventional banding techniques in the future.
Abstract. Routine cytogenetic analysis provides important information on diagnostic and prognostic relevance for hematological malignancies. However, it is often difficult to obtain good karyotypes, especially of cells from cases with acute lymphoblastic leukemia (ALL) because of poor morphology and spreading. Thus, detailed karyotyping can be hampered and even in case of a 'normal karyotype' according to banding cytogenetics doubts remain if the result is reliable. In order to address this problem a series of 37 ALL cases without any detectable numerical or structural chromosomal defects was selected and studied by two recently developed multicolor fluorescence in situ hybridization (FISH) approaches: 1) multitude multicolor banding (mMCB) is a FISH-banding technique, which allows the analyses of inter-and intra-chromosomal rearrangements of the whole human karyotype in one single experiment; 2) chromosome-specific subcentromere/subtelomere-specific multicolor (subCTM-)FISH applies locus-specific subtelomeric and subcentromic probes and enables the characterization of the subtelomeric and peri-centric regions of the chromosomes, not analyzable by other FISHapproaches. Thus, we detected the following recurrent cryptic chromosomal aberrations: del(12)(pter) [8 cases], del(9)(qter) [3 cases], and del(11)(pter) [2 cases]. Moreover, cryptic changes in additional nine subtelomeric and in two subcentromeric regions were observed one time, each. In summary, mMCB and subCTM were proven to be powerful methods in the screening for new cryptic chromosomal aberrations, which considerably increased the accuracy of cytogenetic diagnosis.
The multicolor-banding (mcb) technique is a fluorescence in situ hybridization (FISH)-banding approach, which is based on region-specific microdissection libraries producing changing fluorescence intensity ratios along the chromosomes. The latter are used to assign different pseudocolors to specific chromosomal regions. Here we present the first three available mcb-probe sets for the Mus musculus chromosomes 3, 6, and 18. In the present work, the creation of the microdissection libraries was done for the first time on mouse/human somatic cell hybrids. During creation of the mcb-probes, the latter enabled an unambiguous identification of the, otherwise in GTG-banding, hardly distinguishable murine chromosomes.
The Moloney murine leukemia virus-transformed suspension cell line WMP2 is derived from wild mice (Mus musculus) of the WMP/WMP strain. These mice carry nine pairs of metacentric Robertsonian translocation chromosomes. As the chromosomes of the wild-type mouse are all acrocentric, metaphase spreads of the WMP2 cells seam to be highly suited for physical gene mapping. Here we studied the WMP2 line using spectral karyotyping (SKY) combined with new established mouse specific multicolor banding (mcb) probes for the chromosomes X, 3, 4, 6 and 18. SKY revealed that the WMP2 cell line developed further four derivative chromosomes. After application of mcb five previously unrecognizable intrachromosomal rearrangements with 9 breakpoints were detected for the studied chromosomes.
The fusion gene BCR/ABL arises in connection with a complex translocation event in 2-10% of cases with chronic myeloid leukemia (CML). Due to causative treatment with Imatinib most cases with variant rearrangements show no specific prognostic significance, though the events of therapy resistance remain to be studied. Herein we report on three CML cases with complex chromosomal aberrations not observed before, involving chromosomal regions such as 1p32, 2q11 and 6q12. Additionally we report on one case with the rare translocation t(3;8)(p22;q22) along with the classic Philadelphia (Ph) chromosome. In two cases, two different breakpoints on chromosome 22 were found. Moreover, in one of them two breakpoints on chromosome 9 were observed. The following chromosomal studies, during therapy by Imatinib, have revealed different cytogenetic responses.
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