dup(12)(q13–q22) and 13q14 Deletion in a Case of B-Cell Chronic Lymphocytic Leukemia (original) (raw)
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Haematologica, 1999
Trisomy 12 is the most common numerical chromosomal aberration in patients with B-cell chronic lymphocytic leukemia (B-CLL). Fluorescence in situ hybridization (FISH) has improved the detection of this cytogenetic abnormality and has made detection possible in all phases of the cell cycle. The presence of the trisomy 12 positive (+12) cell population has generally been investigated in leukemic cells obtained from the peripheral blood of CLL patients. To ascertain whether trisomy 12 is expressed homogeneously in cells of different hemopoietic tissues, we applied FISH to lymph node, peripheral blood and bone marrow samples obtained simultaneously from 23 untreated B-CLL patients. Twenty-three newly diagnosed patients with B-CLL, 15 in stage B and 8 in stage C, were included in the present study. Peripheral blood smears, bone marrow aspirate smears and lymph node touch imprints were collected from each patient at diagnosis. Cytologic preparations were examined by light microscopy in or...
1993
Fluorescence in situ hybridization (FISH) with a chromo- some 12 specific a-centromeric probe was performed on interphase cells from 183 patients with B-cell chronic lym- phocytic leukemia (CLL). Twenty one cases with trisomy 12 (1 1.5%) were detected. The number of trisomic cells ranged from 5.5% to 76% (mean 38.5%). No correlation was found between the presence of trisomy 12 and white blood cell count, hemoglobin level, platelet count, a spe- cific immunophenotype, clinical stage, sex, splenomegaly, or lymphadenopathy. Morphologic review of all cases with trisomy 12 showed seven (33%) with more than 10% pro- lymphocytes and three (1 4%) with CLL of mixed cell type. While trisomy 12 is the most common chromosomal ab- -CELL CHRONIC lymphocytic leukemia (CLL) re- B sults from the clonal expansion of mature looking lymphocytes.' A degree of morphologic heterogeneity has been recognized for a number of years223; recently, this has been examined by the French-American-British (FAB)...
Trisomy 12 is uncommon in typical chronic lymphocytic leukaemias
British Journal of Haematology, 1994
The incidence of trisomy 12 was studied by conventional chromosome analysis in 11 1 patients referred as B-cell chronic lymphocytic leukaemia (B-CLL). Fluorescent in situ hybridization (FISH) was also applied in 34 of those patients with either a normal karyotype or no analysable mitoses. By karyotyping, trisomy 12 was present in 11'7% (1 3/111), whereas additional FISH increased the incidence to 14.4% (16/111). When subdividing our cases in either typical CLL (n = go), fulfilling the FAB classification criteria, or atypical CLL (n = 21). with one or more variations from those criteria, the incidence of t 1 2 by metaphase analysis was 3% and 48%. respectively. Additional FISH increased the incidence to 4% and 57%. The most common aberration in atypical CLL was FMC7 positivity (n = 11). followed by CD5 negativity (n = 8), strong surface immunoglobulin staining (n = 7 ) and atypical morphology (n = 6). Trisomy 12 could only be demonstrated in a small proportion of neoplastic cells in all positive cases. By FISH and/or karyotyping, all available samples at diagnosis of the disease were positive.
Co-existence of t(6;13)(p21;q14.1) and trisomy 12 in chronic lymphocytic leukemia
Medical Oncology
We report a case of a 57-year-old man diagnosed with chronic lymphocytic leukemia (CLL) and presence of a rare t(6;13)(p21;q14.1) in association with an extra copy of chromosome 12. Classical cytogenetic analysis using the immunostimulatory combination of DSP30 and IL-2 showed the karyotype 47,XY,t(6;13)(p21;q14.1), +12 in 75% of the metaphase cells. Spectral karyotype analysis (SKY) confirmed the abnormality previously seen by G-banding. Additionally, interphase fluorescence in situ hybridization using an LSI CEP 12 probe performed on peripheral blood cells without any stimulant agent showed trisomy of chromosome 12 in 67% of analyzed cells (134/200). To the best of our knowledge, the association of t(6;13)(p21;q14.1) and +12 in CLL has never been described. The prognostic significance of these new findings in CLL remains to be elucidated. However, the patient has been followed up since 2009 without any therapeutic intervention and has so far remained stable.
Trisomy 19 is associated with trisomy 12 and mutated IGHV genes in B-chronic lymphocytic leukaemia
British Journal of Haematology, 2007
Trisomy 19 is associated with trisomy 12 and mutated IGHV genes in B-chronic lymphocytic leukaemia B-cell chronic lymphocytic leukaemia (B-CLL) is the most common leukaemia in adults in Western countries. Most B-CLL carry specific chromosomal aberrations partially with prognostic impact (Stilgenbauer et al, 2002). Apart from common chromosomal alterations, other recurrent aberrations have recently been described. Schwaenen et al (2004) investigated 106 B-CLL cases by array comparative genomic hybridisation (CGH) and showed trisomy 19 as a chromosomal aberration in almost 5% of cases. Dicker et al (2006) detected four cases with trisomy 19 in 125 B-CLL cases (3%) by classical cytogenetic analysis using a novel immunostimulatory method (Dicker et al, 2006). Interestingly, this aberration seemed to be correlated with trisomy 12 and mutated IGHV genes (Schwaenen et al, 2004). Trisomy 12 is found in 10-20% of B-CLL (Stilgenbauer et al, 2002) and was initially reported to be an adverse prognostic factor (Juliusson et al, 1985). However, this was not confirmed in other studies (Stilgenbauer et al, 2002). Possibly, B-CLL patients with trisomy 12 and trisomy 19 could have a different clinical outcome and constitute a distinct subgroup within the group of patients with trisomy 12 (Schwaenen et al, 2004). Patients and methods A total of 505 B-CLL were investigated by metaphase cytogenetic analysis. Two hundred additional cases were investigated by fluorescence in situ hybridisation (FISH) using probes for the centromeric region of chromosome 12, ATM
Detailed molecular delineation of 13q14. 3 loss in B-cell chronic lymphocytic leukemia
1998
A region of chromosome 13q14.3, telomeric to the Retinoblastoma gene RB-1 is frequently deleted in patients with B-cell chronic lymphocytic leukemia (B-CLL). A cosmid and P1derived artificial chromosome (PAC) contig spanning over 600 kb has been constructed, which encompasses this locus. The contig clones have been used to order a number of markers along the minimally deleted region and to localize a series of CpG islands corresponding to possible candidate genes. A novel polymorphic dinucleotide repeat, 6E3.2, present in one of the ordered cosmid clones has been isolated for use in deletion mapping studies of patient DNA. Leuke-mic samples from 229 CLL patients have been screened for loss of heterozygosity using microsatellite markers and analyzed for hemizygous and homozygous deletions by Southern blot techniques using genomic probes selected from cosmids across the region. Hemizygous deletions were found in 31% of cases with an additional 10% showing homozygous loss. The use of these probes has defined the commonly deleted area to less than 130 kb, centromeric to the locus D13S272.
Coexistence of trisomy 12 and del(13)(q14.3) in two patients with chronic lymphocytic leukemia
Archives of Biological Sciences, 2009
We describe two patients with diagnosis of chronic lymphocytic leukemia (CLL) in whom interphase fluorescence in situ hybridization (FISH) analysis revealed trisomy 12 and del(13)(q14.3) occurring in the same clone. These abnormalities are rarely seen together and the prognostic relevance of their coexistence is still unclear. According to some data, a probable adverse prognosis for this group of patients is suggested. Our patients have been in a stable phase of the disease for more than one year since the given abnormalities were documented in their karyotypes. Further study is necessary to determine the prognostic significance of coexistence of these abnormalities in CLL patients.