title: Interphase fluorescence in situ hybridization detection of cytogenetic abnormalities in B-cell chronic lymphocytic leukemia.
abstract: The most frequent chromosomal abnormalities in B-cell chronic lymphocytic leukemia (B-CLL) are deletions on 13q14 and 17p13, trisomy 12, and 14q32 rearrangement. Conventional cytogenetic analysis underestimates the frequency of specific chromosome aberrations in B-CLL because of the low rate of spontaneous mitoses and the poor response to mitogen stimulation. We used interphase fluorescence in situ hybridization (I-FISH) to explore the incidence of chromosomal changes in the peripheral blood cells of B-CLL patients. Probes for 13q14 (D13S319), 17p13 (p53), the centromere of chromosome 12 (CEP12), and 14q32 (IGHC/IGHV) were applied to detect chromosomal aberrations in peripheral blood samples from 83 B-CLL patients (60 men, 23 women). Molecular cytogenetic aberrations were found in 61 cases (73.5%), and 8 patients (9.6%) showed 2 kinds of abnormalities. The most frequent abnormality was deletion of 13q14 (41.0%), followed by +12 (19.3%), deletion of 17p13 (12%), and 14q32 rearrangement (9.6%). FISH results were analyzed for correlation with Binet stages. The percentages of patients who showed abnormalities by FISH were 73.0%, 73.3%, and 80% for Binet stages A, B, and C, respectively, and the percentages of patients with abnormalities who showed 2 anomalies were 7.9%, 27.3%, and 0% for Binet stages A, B, and C, respectively. We noted no consistent pattern among the various Binet stages in the distribution of either the types of FISH-detected anomalies or the numbers of FISH anomalies. I-FISH was found to be a rapid, exact, and sensitive technique for analysis of chromosome aberrations in CLL. FISH could provide accurate information regarding the molecular cytogenetic features of CLL.
authors.affiliation: Department of Hematology, 1st Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital, Nanjing, China.
authors.forename: Wei
authors.initials: W
authors.lastname: Xu
authors.forename: Jian-Yong
authors.initials: JY
authors.lastname: Li
authors.forename: Jin-Lan
authors.initials: JL
authors.lastname: Pan
authors.forename: Hai-Rong
authors.initials: HR
authors.lastname: Qiu
authors.forename: Yun-Feng
authors.initials: YF
authors.lastname: Shen
authors.forename: Li
authors.initials: L
authors.lastname: Li
authors.forename: Ya-Fang
authors.initials: YF
authors.lastname: Wu
authors.forename: Yong-Quan
authors.initials: YQ
authors.lastname: Xue
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People; D002869:Chromosome Aberrations; D002882:Chromosomes, Human, Pair 13; D002886:Chromosomes, Human, Pair 17; D005260:Female; D015326:Gene Rearrangement, B-Lymphocyte, Heavy Chain / Q000235:genetics; D006801:Humans; D007143:Immunoglobulin Heavy Chains / Q000235:genetics; D017404:In Situ Hybridization, Fluorescence; D007399:Interphase / Q000235:genetics*; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009367:Neoplasm Staging
chemical_list: D007143:Immunoglobulin Heavy Chains