PMID- 16207215 OWN - NLM STAT- MEDLINE DCOM- 20051213 LR - 20091103 IS - 0009-9163 (Print) IS - 0009-9163 (Linking) VI - 68 IP - 5 DP - 2005 Nov TI - Evidence for deletion of 9q as a two-step process in chronic myeloid leukemia. PG - 461-5 AB - Evidence for deletion of 9q as a two-step process in chronic myeloid leukemia. Chronic myeloid leukemia (CML) is characterized by the Philadelphia translocation t(9;22)(q34;q11) resulting in the BCR/ABL fusion gene. Submicroscopic deletion of the derivative chromosome 9 occurs in a subset of these patients and is associated with poor prognosis. In the current study, we present two unusual cases of CML selected from a series of 54 consecutive cases. A detailed study using classical cytogenetics and fluorescence in situ hybridization (FISH) analysis was done using dual color extra signal FISH and whole chromosome paint in order to elucidate the mechanism of 9q deletion. One case had two clones on interphase FISH, one with and one without chromosome 9q deletion. The other case had two clones on both cytogenetic and FISH analyses, one with and one without a marker chromosome carrying chromosome 9q sequences. In this latter case, the clone with deletion of the derivative chromosome 9 comprised 21.1% at diagnosis, increasing to 36.8% after 11 months, suggesting a growth advantage. We report here evidence that deletions on 9q in CML may occur through breakage and rearrangement of chromosomes resulting in derivative chromosomes and either a marker chromosome or fragment/episome, followed by loss of chromosome material from the cell. FAU - Rudduck-Sivaswaren, C AU - Rudduck-Sivaswaren C AD - Department of Pathology, Singapore General Hospital, Singapore. FAU - Tien, S-L AU - Tien SL FAU - Lim, P AU - Lim P FAU - Lim, E AU - Lim E FAU - Lie, D K H AU - Lie DK FAU - Tan, P H C AU - Tan PH FAU - Lee, A S G AU - Lee AS LA - eng PT - Case Reports PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - Denmark TA - Clin Genet JT - Clinical genetics JID - 0253664 SB - IM MH - Adult MH - *Chromosome Deletion MH - Chromosomes, Human, Pair 9/*genetics MH - Female MH - Humans MH - In Situ Hybridization, Fluorescence MH - Karyotyping MH - Leukemia, Myelogenous, Chronic, BCR-ABL Positive/*genetics MH - Translocation, Genetic EDAT- 2005/10/07 09:00 MHDA- 2005/12/15 09:00 CRDT- 2005/10/07 09:00 PHST- 2005/10/07 09:00 [pubmed] PHST- 2005/12/15 09:00 [medline] PHST- 2005/10/07 09:00 [entrez] AID - CGE521 [pii] AID - 10.1111/j.1399-0004.2005.00521.x [doi] PST - ppublish SO - Clin Genet. 2005 Nov;68(5):461-5. doi: 10.1111/j.1399-0004.2005.00521.x.