PMID- 15474149 OWN - NLM STAT- MEDLINE DCOM- 20041124 LR - 20131121 IS - 0165-4608 (Print) IS - 0165-4608 (Linking) VI - 154 IP - 2 DP - 2004 Oct 15 TI - Interphase fluorescence in situ hybridization studies for the detection of 9q34 deletions in chronic myelogenous leukemia: a practical approach to clinical diagnosis. PG - 138-43 AB - Chronic myelogenous leukemia (CML) is characterized by the Philadelphia chromosome (Ph) in more than 90% of cases. Recent studies using fluorescence in situ hybridization (FISH) have shown that in a subset of patients with CML, deletions of 9q34 involving the argininosuccinate synthetase region occur at the time of the Philadelphia translocation and are associated with a poor prognosis. We performed interphase FISH studies in 152 cases of CML using a dual-color, dual-fusion probe system with a third probe directed at 9q34. Cytogenetic studies showed a simple (typical) Ph in 124/152 (82%), a cryptic Ph in 11/152 (7%), and a variant Ph chromosome with a complex translocation in 17/152 (11%) of cases. Interphase FISH studies showed single BCR/ABL fusion patterns in 48/152 (32%) of cases. Deletions of 9q34 were observed in 14% of all the cases and were present in 46% of cases with single BCR/ABL fusion pattern. All the 9q34 deletions occurred in cases with single BCR/ABL fusion signal. However, a single-fusion pattern is not specific for 9q34 deletions, and cases should be routinely screened for the presence of this prognostically significant abnormality by using a third probe directed specifically at 9q34. FAU - Aoun, Patricia AU - Aoun P AD - Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha 68198, USA. paoun@unmc.edu FAU - Wiggins, Michele AU - Wiggins M FAU - Pickering, Diane AU - Pickering D FAU - Foran, James AU - Foran J FAU - Rasheed, Husain AU - Rasheed H FAU - Pavletic, Steve Z AU - Pavletic SZ FAU - Sanger, Warren AU - Sanger W LA - eng PT - Journal Article PL - United States TA - Cancer Genet Cytogenet JT - Cancer genetics and cytogenetics JID - 7909240 RN - 0 (DNA Probes) RN - EC 2.7.10.2 (Fusion Proteins, bcr-abl) SB - IM MH - Chromosome Banding MH - *Chromosome Deletion MH - *Chromosomes, Human, Pair 9 MH - DNA Probes MH - Fusion Proteins, bcr-abl MH - Humans MH - In Situ Hybridization, Fluorescence/*methods MH - Interphase MH - Karyotyping MH - Leukemia, Myelogenous, Chronic, BCR-ABL Positive/*diagnosis/*genetics MH - Philadelphia Chromosome EDAT- 2004/10/12 09:00 MHDA- 2004/12/16 09:00 CRDT- 2004/10/12 09:00 PHST- 2004/01/05 00:00 [received] PHST- 2004/02/06 00:00 [revised] PHST- 2004/02/12 00:00 [accepted] PHST- 2004/10/12 09:00 [pubmed] PHST- 2004/12/16 09:00 [medline] PHST- 2004/10/12 09:00 [entrez] AID - S0165-4608(04)00090-1 [pii] AID - 10.1016/j.cancergencyto.2004.02.012 [doi] PST - ppublish SO - Cancer Genet Cytogenet. 2004 Oct 15;154(2):138-43. doi: 10.1016/j.cancergencyto.2004.02.012.