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Interpretation of submicroscopic deletions of the BCR or ABL gene should not depend on extra signal-FISH: problems in interpretation of submicroscopic deletion of the BCR or ABL gene with extra signal-FISH

Cited 5 time in Web of Science Cited 9 time in Scopus
Authors
Kim, Young Ree; Cho, Han Ik; Yoon, Sung Soo; Park, Seonyang; Kim, Byoung Kook; Lee, Young Kyung; Chun, Honggu; Kim, Hee Chan; Lee, Dong Soon
Issue Date
2005-02-22
Publisher
Wiley-Blackwell
Citation
Genes Chromosomes Cancer. 2005 May;43(1):37-44.
Keywords
Bone Marrow/pathologyFusion Proteins, bcr-abl/*genetics*Gene Deletion*Genes, ablHumansIn Situ Hybridization, FluorescenceLeukemia, Myelogenous, Chronic, BCR-ABL Positive/*geneticsPrognosisProtein-Tyrosine Kinases/*geneticsProto-Oncogene Proteins/*geneticsProto-Oncogene Proteins c-bcrReproducibility of ResultsReverse Transcriptase Polymerase Chain ReactionSensitivity and Specificity
Abstract
Several groups have demonstrated that a submicroscopic gene deletion in Ph+ chronic myelogenous leukemia (CML) is associated with a poor prognosis and reduced response to treatment. To assess the variation between detection methods in the interpretation of a submicroscopic gene deletion, we performed an extra signal (ES)-FISH BCR/ABL and double-FISH (D-FISH) BCR/ABL on frozen bone marrow cells from 79 patients with CML (63 in the chronic phase, 6 in the accelerated phase, and 10 in blast crisis) and 30 patients with a BCR/ABL-negative myeloproliferative disorder as determined by RT-PCR. The normal cutoff values were 0.22% for ES-FISH and 0.25% for D-FISH. The cutoff values for false-positive signals from a juxtaposition of the BCR and ABL gene were 11% in ES-FISH and 13% in D-FISH. Of the 14 patients who showed an ABL gene deletion by ES-FISH, 5 had an ABL deletion only, 5 had both a BCR and an ABL deletion, but 4 proved to have a classic BCR/ABL rearrangement without a submicroscopic deletion, as determined by D-FISH. Discrepant results between ES- and D-FISH were observed in 12 of the 79 patients (15.8%), and the main causes of a discrepancy were a false-positive ABL deletion (4 of 12, 33%), a variant Philadelphia chromosome (3 of 12, 25%), an inversion of derivative chromosome 9 at the very breakpoint of the ABL gene (9q32) (1 of 12, 8.3%), a cryptic variant Ph chromosome (1 of 12, 8.3%), and a marker chromosome (1 of 12, 8.3%). Although there was no significant difference in the sensitivity for the detection of the fusion signal between ES- and D-FISH, ES-FISH showed a high percentage of cells with false-positive fusion signals (1 orange, 1 green, 1 yellow), which makes it difficult to interpret the submicroscopic ABL deletion. In conclusion, an interpretation of the submicroscopic deletions of the BCR or ABL gene should not depend on ES-FISH.
ISSN
1045-2257 (Print)
Language
English
URI
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=15723338

https://hdl.handle.net/10371/23425
DOI
https://doi.org/10.1002/gcc.20161
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College of Medicine/School of Medicine (의과대학/대학원)Internal Medicine (내과학전공)Journal Papers (저널논문_내과학전공)
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