PMID- 15041230 OWN - NLM STAT- MEDLINE DCOM- 20040430 LR - 20131121 IS - 0165-4608 (Print) IS - 0165-4608 (Linking) VI - 150 IP - 1 DP - 2004 Apr 1 TI - A fluorescence in situ hybridization study of complex t(9;22) in two chronic myelocytic leukemia cases with a masked Philadelphia chromosome. PG - 81-5 AB - The t(9;22)(q34;q11) is evident in more than 90% of patients with chronic myelocytic leukemia (CML) and gives rise to the Philadelphia chromosome (Ph). Approximately 5%-10% of CML patients show variant translocations involving other chromosomes in addition to chromosomes 9 and 22. In some variant translocations, additional material is transferred on der(22), resulting in a masked Ph chromosome. In this paper, we report two apparently Ph-negative (Ph-) CML cases showing a t(7;9;22)(q22;q34;q11) and a t(8;9;22)(q12;q34;q11), respectively. A detailed molecular cytogenetic characterization was performed by fluorescence in situ hybridization (FISH), which disclosed the presence of the 5'BCR/3'ABL fusion gene on the der(7) and der(8) chromosomes, respectively. Derivative (22) appeared as a masked Ph chromosome in both cases. FISH analysis with appropriate BAC/PAC clones allowed us to precisely characterize the complex chromosomal rearrangements that were not detected by conventional cytogenetic analysis. FAU - Zagaria, Antonella AU - Zagaria A AD - Department of Hematology, University of Bari, Piazza Giulio Cesare 11, 70124 Bari, Italy. FAU - Anelli, Luisa AU - Anelli L FAU - Albano, Francesco AU - Albano F FAU - Storlazzi, Clelia Tiziana AU - Storlazzi CT FAU - Liso, Arcangelo AU - Liso A FAU - Roberti, Maria Grazia AU - Roberti MG FAU - Buquicchio, Caterina AU - Buquicchio C FAU - Liso, Vincenzo AU - Liso V FAU - Rocchi, Mariano AU - Rocchi M FAU - Specchia, Giorgina AU - Specchia G LA - eng PT - Case Reports PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United States TA - Cancer Genet Cytogenet JT - Cancer genetics and cytogenetics JID - 7909240 RN - EC 2.7.10.2 (Fusion Proteins, bcr-abl) SB - IM MH - Chromosomes, Human, Pair 22/*genetics MH - Chromosomes, Human, Pair 8/genetics MH - Chromosomes, Human, Pair 9/*genetics MH - Fusion Proteins, bcr-abl/genetics/metabolism MH - Humans MH - In Situ Hybridization, Fluorescence MH - Karyotyping MH - Leukemia, Myelogenous, Chronic, BCR-ABL Positive/*genetics MH - Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative/*genetics MH - Male MH - Middle Aged MH - *Translocation, Genetic EDAT- 2004/03/26 05:00 MHDA- 2004/05/01 05:00 CRDT- 2004/03/26 05:00 PHST- 2003/08/07 00:00 [received] PHST- 2003/08/22 00:00 [accepted] PHST- 2004/03/26 05:00 [pubmed] PHST- 2004/05/01 05:00 [medline] PHST- 2004/03/26 05:00 [entrez] AID - S0165460803003741 [pii] AID - 10.1016/j.cancergencyto.2003.08.018 [doi] PST - ppublish SO - Cancer Genet Cytogenet. 2004 Apr 1;150(1):81-5. doi: 10.1016/j.cancergencyto.2003.08.018.