PMID- 8142658 OWN - NLM STAT- MEDLINE DCOM- 19940505 LR - 20210216 IS - 0006-4971 (Print) IS - 0006-4971 (Linking) VI - 83 IP - 7 DP - 1994 Apr 1 TI - Detection of chimeric BCR-ABL genes on bone marrow samples and blood smears in chronic myeloid and acute lymphoblastic leukemia by in situ hybridization. PG - 1922-8 AB - The presence of BCR-ABL fusion genes has important diagnostic and prognostic implications in chronic myeloid leukemia (CML) and acute lymphoblastic leukemia (ALL). The CML-specific chimeric BCR-ABL gene with a break involving the major breakpoint cluster region (M-bcr) of the BCR-gene has been detected by means of fluorescence in situ hybridization (FISH). In this study, we present a FISH protocol that allows the detection of breaks in both the major and the minor breakpoint cluster region (m-bcr). Three hybridization signals of D107F9, a yeast artificial chromosome (YAC)-derived probe spanning the breakpoint regions of the BCR gene, were indicative of the translocation events. To increase the specificity further, this probe was combined with cos-abl 8, a cosmid probe flanking the breakpoint within the ABL gene for dual-color hybridization. Samples of 21 patients with CML, the ALL-derived cell line SUP-B15, and of seven patients with Philadelphia chromosome (Ph1)-positive ALL (three of them with breakpoints within m-bcr) were examined. BCR-ABL fusion was detected in all cases with high specificity (false-positive nuclei: mean, 0.1%). On cytogenetic preparations, the percentages of BCR-ABL-positive interphase cells ranged from 53% to 91%. Comparable efficiencies were achieved on blood smears. In conclusion, hybridization with D107F9 and cos-abl 8 allows unambiguous diagnosis of BCR-ABL genes and is likely to become an important tool for the monitoring of therapies in patients with CML and ALL. FAU - Bentz, M AU - Bentz M AD - Medizinische Klinik, Universitat Heidelberg, Germany. FAU - Cabot, G AU - Cabot G FAU - Moos, M AU - Moos M FAU - Speicher, M R AU - Speicher MR FAU - Ganser, A AU - Ganser A FAU - Lichter, P AU - Lichter P FAU - Dohner, H AU - Dohner H LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United States TA - Blood JT - Blood JID - 7603509 RN - EC 2.7.10.2 (Fusion Proteins, bcr-abl) SB - IM MH - Adult MH - Aged MH - Base Sequence MH - Bone Marrow/metabolism MH - Cloning, Molecular MH - Female MH - Fusion Proteins, bcr-abl/*genetics MH - Humans MH - *In Situ Hybridization, Fluorescence MH - Leukemia, Lymphocytic, Chronic, B-Cell/*genetics MH - Male MH - Middle Aged MH - Molecular Sequence Data MH - Precursor Cell Lymphoblastic Leukemia-Lymphoma/*genetics MH - *Proto-Oncogenes EDAT- 1994/04/01 00:00 MHDA- 1994/04/01 00:01 CRDT- 1994/04/01 00:00 PHST- 1994/04/01 00:00 [pubmed] PHST- 1994/04/01 00:01 [medline] PHST- 1994/04/01 00:00 [entrez] AID - S0006-4971(20)73835-8 [pii] PST - ppublish SO - Blood. 1994 Apr 1;83(7):1922-8.