Detection of diagnostically critical, often hidden, anomalies in complex karyotypes of haematological disorders using multicolour fluorescence <i>in situ</i> hybridization

Jalal, Syed M.; Law, Mark E.; Stamberg, Judith; Fonseca, Rafaël; Seely, J. Rodman; Myers, W. H.; Hanson, Curtis A.

doi:10.1046/j.1365-2141.2001.02630.x

Cited by 28 publications

(14 citation statements)

References 9 publications

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“…24,25 Slides with informative karyotypes in 5 patients were processed using the Spectra Vysion (Vysis, Downer's Grove, IL) reagent. Probes for M-FISH were placed on the hybridization site, protected with a coverslip, sealed with rubber cement, and placed in the HYBrite (Vysis) for codenaturation.…”

Section: Multicolor-fish Assaymentioning

confidence: 99%

Waldenström macroglobulinemia neoplastic cells lack immunoglobulin heavy chain locus translocations but have frequent 6q deletions

Schop

Kuehl

Wier

et al. 2002

Blood

183

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Lymphoplasmacytic lymphoma (LPL) is characterized by t(9;14)(p13;q32) in 50% of patients who lack paraproteinemia. Waldenströ m macroglobulinemia (WM), which has an immunoglobulin M (IgM) paraproteinemia, is classified as an LPL. Rare reports have suggested that WM sometimes is associated with 14q23 translocations, deletions of 6q, and t(11;18)(q21; q21). We tested for these abnormalities in the clonal cells of WM patients. We selected patients with clinicopathologic diagnosis of WM (all had IgM levels greater than 1.5 g/dL). Southern blot assay was used to detect legitimate and illegitimate IgH switch rearrangements. In addition to conventional cytogenetic (CC) and multicolor metaphase fluorescence in situ hybridization (M-FISH) analyses, we used interphase FISH to screen for t(9;14)(p13; q32) and other IgH translocations, t(11; 18)(q21;q21), and 6q21 deletions. Genomic stability was also assessed using chromosome enumeration probes for chromosomes 7, 9, 11, 12, 15, and 17 in 15 patients. There was no evidence of either legitimate or illegitimate IgH rearrangements by Southern blot assay (n ‫؍‬ 12). CC (n ‫؍‬ 37), M-FISH (n ‫؍‬ 5), and interphase FISH (n ‫؍‬ 42) failed to identify IgH or t(11;18) translocations.Although tumor cells from most patients were diploid for the chromosomes studied, deletions of 6q21 were observed in 42% of patients. In contrast to LPL tumors that are not associated with paraproteinemia and that have frequent t(9;14)(p13;q32) translocations, IgH translocations are not found in WM, a form of LPL tumor distinguished by IgM paraproteinemia. However, WM tumor cells, which appear to be diploid or near diploid, often have deletions of 6q21. (Blood.

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Section: Multicolor-fish Assaymentioning

confidence: 99%

Waldenström macroglobulinemia neoplastic cells lack immunoglobulin heavy chain locus translocations but have frequent 6q deletions

Schop

Kuehl

Wier

et al. 2002

Blood

183

View full text Add to dashboard Cite

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“…7,30,198 (i) FISH detection of t(11;14)(q13;q32) FISH techniques including interphase FISH, are the most sensitive means of demonstrating the translocation and virtually all translocation positive MCL will be detected. 199 Single chromosome 11 painting probes 200 or YAC probes spanning BCL-1 199,201 are not as sensitive as two-colour FISH employing chromosome 14 and 11 probes, 190,191,202-208 which achieve qualitative sensitivities of y95%, or multicolour FISH (M-FISH) 209 and DNA fibre-FISH 210,211 which detect the translocation in virtually all cases.…”

Section: Testing For Chromosomal Translocations By Pcr and Fishmentioning

confidence: 99%

The role of molecular studies in lymphoma diagnosis: a review

Spagnolo

Ellis²,

Juneja

et al. 2004

Pathology

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“…Some hybridize to specific centromeres [8,9] and others to specific gene locŸ [2,[10][11][12]. Some probes hybridize to unique DNA sequences over the length of each chromosome producing a paint-like pattem for each chromosome [13]. Still, other probes hybridize to chromosome specific telomere regions [14].…”

Section: Conventional Cytogenetic Studies Versus Fisil Studiesmentioning

confidence: 99%

“…A variant of whole chromosome paints is ealled "multicolor FISH" because it palnts each of the 24 sets of human chromosomes a different color. This method is particularly useful to accurately characterize chromosome anomalies in metaphases with complex karyotypes [13].…”

Section: Conventional Cytogenetic Studies Versus Fisil Studiesmentioning

confidence: 99%

Cytogenetic and FISH studies in myelodysplasia, acute myeloid leukemia, chronic lymphocytic leukemia and lymphoma

Dewald

2002

Int J Hematol

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Conventional cytogenetic studies are widely used today to diagnose and manage patients with hematological malignancies. The application of fluorescence in situ hybridization (FISH) with chromosome-specific DNA probes helps to further define molecular subclasses and cytogenetic risk categories for patients with these disorders. Moreover, FISH permits analysis of proliferating (metaphase cells) and non-proliferating (interphase nuclei) cells, and is useful in establishing the percentage of neoplastic cells before and after therapy (minimal residual disease). For patients with myelodysplasia or acute myeloid leukemia, these chromosome techniques are important for accurate diagnosis and classification of disease and to help decide treatment and monitor response to therapy. Conventional cytogenetic studies have been problematic in chronic lymphocytic leukemia because the neoplastic cells divide infrequently. However, interphase FISH studies now permit detection of chromosome anomalies with prognostic significance in chronic lymphocytic leukemia. The World Health Organization recognizes that genetic anomalies are one of the most reliable criteria for classification of malignant lymphomas. New methods to extract individual nuclei from paraffin-embedded tissue are now available which permit the use of interphase FISH to detect important chromosome anomalies in lymphoma.

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Detection of diagnostically critical, often hidden, anomalies in complex karyotypes of haematological disorders using multicolour fluorescence in situ hybridization

Cited by 28 publications

References 9 publications

Waldenström macroglobulinemia neoplastic cells lack immunoglobulin heavy chain locus translocations but have frequent 6q deletions

Waldenström macroglobulinemia neoplastic cells lack immunoglobulin heavy chain locus translocations but have frequent 6q deletions

The role of molecular studies in lymphoma diagnosis: a review

Cytogenetic and FISH studies in myelodysplasia, acute myeloid leukemia, chronic lymphocytic leukemia and lymphoma

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