scholarly journals Detection of trisomy 12 by fluorescent in situ hybridization (FISH) in chronic lymphocytic leukemia

2000 ◽  
Vol 23 (3) ◽  
pp. 531-533 ◽  
Author(s):  
Maria de Lourdes L.F. Chauffaille ◽  
Eliana Azevedo Marques ◽  
Jose Salvador Rodrigues de Oliveira ◽  
Maria Madalena Rodrigues ◽  
Maria Stella Figueiredo ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Chronic Lymphocytic Leukemia ◽  
Fluorescent In Situ Hybridization ◽  
Molecular Cytogenetics ◽  
Lymphocytic Leukemia ◽  
Specific Method ◽  
Alpha Satellite ◽  
Trisomy 12 ◽  
Mature Lymphocyte

Chronic lymphocytic leukemia (CLL) presents a varying incidence of karyotypic abnormalities whose detection is complicated by difficulties in obtaining mitosis for analysis in this type of mature lymphocyte disorder. Since the introduction of molecular cytogenetics (FISH = fluorescent in situ hybridization), applying centromeric probes for chromosome 12 has made it possible to detect a higher percentage of trisomy 12 cases. The objective of the present study was to detect trisomy 12 by FISH (alpha satellite probe) in 13 patients with CLL whose karyotypes by G-banding were either normal or inadequate. Using this method trisomy 12 was detected in three patients in a percentage of positive cells varying from 55.5% to 79%, showing that FISH is a sensitive and highly specific method for trisomy detection and should be routinely performed when the karyotype is normal.

scholarly journals Detection of trisomy 12 in chronic lymphocytic leukemia by fluorescence in situ hybridization to interphase cells: a simple and sensitive method

Blood ◽  
1992 ◽  
Vol 79 (7) ◽  
pp. 1796-1801 ◽  
Author(s):  
J Anastasi ◽  
MM Le Beau ◽  
JW Vardiman ◽  
AA Fernald ◽  
RA Larson ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Chronic Lymphocytic Leukemia ◽  
Fluorescence In Situ Hybridization ◽  
Cytogenetic Analysis ◽  
Normal Karyotype ◽  
Lymphocytic Leukemia ◽  
Chromosome 12 ◽  
Interphase Cells ◽  
Trisomy 12

Abstract Trisomy 12 is the most common cytogenetic abnormality in chronic lymphocytic leukemia (CLL), and a number of studies have suggested that it may be an adverse prognostic indicator. We have evaluated the usefulness of fluorescence in situ hybridization with a chromosome 12- specific probe as a simple means for detecting trisomy 12 in interphase cells. Forty cases of B-cell CLL previously studied with conventional cytogenetic techniques were analyzed with a biotinylated probe to the centromeric region of chromosome 12. Thirty of these retrospective cases could be reevaluated with in situ hybridization. Our analysis showed three hybridization signals (ie, trisomy 12) in interphase cells from seven of seven cases found previously to have trisomy 12. Trisomy 12 was also detected in five additional cases: in one case thought to have a normal karyotype, in two cases that had been inadequate for routine cytogenetic analysis, and in two cases that had been found to have an abnormal karyotype without trisomy 12. In a prospective series of 20 newly accrued CLL cases, all cases were analyzed successfully by in situ hybridization and six (30%) showed trisomy 12. We were able to perform the analysis on routinely prepared and previously Wright- stained peripheral blood smears. We conclude that fluorescence in situ hybridization is a simple means for the detection of trisomy 12 in CLL. The technique is more sensitive than conventional cytogenetic analysis and would be a useful tool in clinical studies.

scholarly journals Fluorescent in situ hybridization in patients with chronic lymphocytic leukemia with autoimmune hemolytic anemia

2020 ◽  
pp. 16-16
Author(s):  
M.O. Valchuk ◽  
O.V. Zotova ◽  
A.S. Lukyanova ◽  
O.Ya. Vyhovska ◽  
Yu.S. Karo ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Chronic Lymphocytic Leukemia ◽  
Autoimmune Hemolytic Anemia ◽  
Fluorescent In Situ Hybridization ◽  
Tp53 Gene ◽  
Lymphocytic Leukemia ◽  
Response To Treatment ◽  
Cytogenetic Changes ◽  
Atm Gene

Background. Gene aberrations are an important prognostic criterion for the course of B-cell chronic lymphocytic leukemia (B-CLL) and response to treatment, which includes not only immunochemotherapy, but also concomitant infusion therapy for the prevention and correction of complications. Objective. To investigate the presence of prognostic cytogenetic changes in patients with B-CLL with autoimmune hemolytic anemia (AIGA). To analyze the course of the disease and the direct effect of treatment in patients with cytogenetic changes of different nature. Materials and methods. Cytogenetic studies were performed by fluorescent in situ hybridization (FISH) on the interphase nuclei of peripheral blood lymphocytes in 11 patients with B-CLL with AIGA. Probes to the ATM genes (gene localized in region 11q23) and TP53 (gene localized in region 17p13) were used in the work, the deletions of which have prognostic value in B-CLL. All patients received treatment. Results. Among 11 patients with AIGA, signals to both genes were detected in nuclei 4. No deletions were detected. In the cells of the other 7 patients, the absence of a single signal to the ATM gene was detected, indicating the presence of a deletion of del(11)(q23). In recent patients, an unfavorable course of B-CLL disease was observed without response to treatment. Deletions of the TP53 gene in patients of the studied group were not detected. Conclusions. FISH study in patients with B-CLL with AIGA revealed the presence of important and prognostically unfavorable chromosomal rearrangement of the ATM gene in 63 % of patients.

scholarly journals Trisomy 12 in chronic lymphocytic leukemia detected by fluorescence in situ hybridization: analysis by stage, immunophenotype, and morphology

Blood ◽  
1993 ◽  
Vol 82 (2) ◽  
pp. 571-575 ◽  
Author(s):  
TH Que ◽  
JG Marco ◽  
J Ellis ◽  
E Matutes ◽  
VB Babapulle ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Chronic Lymphocytic Leukemia ◽  
Fluorescence In Situ Hybridization ◽  
Clinical Stage ◽  
Lymphocytic Leukemia ◽  
Therapeutic Trial ◽  
Number Of Patients ◽  
Significant Difference ◽  
Trisomy 12

Abstract Fluorescence in situ hybridization (FISH) with a chromosome 12 specific alpha-centromeric probe was performed on interphase cells from 183 patients with B-cell chronic lymphocytic leukemia (CLL). Twenty one cases with trisomy 12 (11.5%) 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 specific immunophenotype, clinical stage, sex, splenomegaly, or lymphadenopathy. Morphologic review of all cases with trisomy 12 showed seven (33%) with more than 10% prolymphocytes and three (14%) with CLL of mixed cell type. While trisomy 12 is the most common chromosomal abnormality in CLL, it is more frequent in morphologically atypical cases, some of which may be undergoing transformation. There was a statistically significant difference in the incidence of atypical cases between those with (47%) and without (7.6%) trisomy 12 (P < .001). It remains to be determined whether this abnormality is associated with a worse prognosis; this is currently being investigated in the context of a national therapeutic trial. The technique used is more sensitive than conventional cytogenetic analysis, which in this series failed to detect trisomy 12 in six cases. FISH allows the systematic study on a large number of patients without the need of metaphase preparations.

Detection of Chromosomal Abnormalities in Chronic Lymphocytic Leukemia Increased by Interphase Fluorescence In Situ Hybridization in TPA-Stimulated Peripheral Blood Cells.

Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 4927-4927
Author(s):  
Anna Aventin ◽  
Jana Sanchez
Keyword(s):  
In Situ Hybridization ◽  
Chronic Lymphocytic Leukemia ◽  
Fluorescence In Situ Hybridization ◽  
Peripheral Blood ◽  
Blood Cells ◽  
Chromosomal Abnormalities ◽  
Lymphocytic Leukemia ◽  
Peripheral Blood Cells ◽  
Trisomy 12

Abstract Chromosomal abnormalities, namely deletion 11q-,13q-, 17p- and trisomy 12, have prognostic significance for patients with chronic lymphocytic leukemia (CLL). Several studies have demonstrated that the interphase fluorescence in situ hybridization technique (I-FISH) in CLL identifies such genomic aberrations in a higher frequency than classical karyotyping, including stimulated cultures using B-cell specific mitogens. However, there appears to be no information in the literature comparing I-FISH on non-cultured and cultured cells in CLL. A total of 56 samples from 49 patients with CLL were studied using commercially available probes for chromosomes 11q22.3(ATM), 13q14(13S272), 17p13(p53) and 12 centromere(D12Z3). We compared the results obtained by I-FISH-PBMC and those by interphase fluorescence in situ hybridization on TPA-stimulated peripheral blood cells (I-FISH-TPA) used for conventional cytogenetics in order to evaluate the usefulness of I-FISH-TPA. The proportion of abnormal nuclei obtained with the I-FISH-TPA was higher than that found with I-FISH-PBMC (P<0.001). Consequently, 15 cases with a negative or borderline result by I-FISH-PBMC became positive by I-FISH-TPA for deletion 11q- (n=2), 13q- (n= 9) and trisomy 12 (n=4). In all but one of these, chromosomal abnormalities were reconfirmed by either metaphase-FISH or conventional G-banding. Disease detection thus increased from 51% with I-FISH-PBMC to 78% with I-FISH-TPA. Interestingly, all 15 cases which reached the diagnostic thresholds for deletion 11q-,13q- and trisomy 12 had a slight lymphocytosis. An absolute lymphocyte count <8.7×109/l was found to be the critical threshold (P=0.037) below which I-FISH-TPA should be performed rather than I-FISH-PBMC. We have shown that I-FISH-TPA can not only detect a higher proportion of abnormal interphase nuclei but can also identify abnormal CLL cases which may be overlooked by I-FISH-PBMC, especially those with low absolute lymphocyte counts. I-FISH-TPA is thus a reliable technique for clinical diagnostics in CLL.

scholarly journals Fluorescent in situ hybridization and cytogenetic studies of trisomy 12 in chronic lymphocytic leukemia

Blood ◽  
1993 ◽  
Vol 81 (10) ◽  
pp. 2702-2707 ◽  
Author(s):  
SM Escudier ◽  
JM Pereira-Leahy ◽  
JW Drach ◽  
HU Weier ◽  
AM Goodacre ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Chronic Lymphocytic Leukemia ◽  
Median Survival ◽  
Chromosomal Abnormalities ◽  
Residual Disease ◽  
Clonal Evolution ◽  
Lymphocytic Leukemia ◽  
Cytogenetic Studies ◽  
Trisomy 12

Abstract Cytogenetic studies (CG) of 475 chronic lymphocytic leukemia (CLL) cases showed trisomy 12 in 6.1% or 26% of patients with abnormal karyotypes. Fluorescence in situ hybridization (FISH) detected trisomy 12 in 35% of 117 CLL patients. Only 34.6% of cases detected by FISH were detected by CG. Twelve patients had low levels of trisomic cells (4% to 11%) relative to clonal B cells (47.5% to 86%), suggestive of clonal evolution. Untreated patients with trisomy 12 were predominantly male (P < .05) and had an increased incidence of splenomegaly (P < .03). Patients with trisomy 12 were more likely to be previously treated and had advanced Binet stage compared with those without trisomy 12. The median survival was shorter in patients with trisomy 12 (7.8 years) and patients with other chromosomal abnormalities without trisomy 12 by FISH (5.5 years) than in patients with diploid karyotypes (14.4 years). The response to fludarabine was similar to that of patients with diploid karyotypes, but there was a trend for earlier disease progression. FISH detected residual disease in all patients with trisomy 12 in complete (n = 6) or partial remission (n = 4). As few as 1 trisomic cell in 5,000 was detected by performing FISH on fluorescence-activated cell sorter-sorted cells. Trisomy 12 was absent in T cells in patients with trisomy 12. We conclude that FISH identifies trisomy 12 approximately 2.6 times more often than CG, readily identifies minimal residual disease, and predicts for a shorter median survival.

scholarly journals Trisomy 12 in chronic lymphocytic leukemia: an interphase cytogenetic study

Blood ◽  
1991 ◽  
Vol 78 (3) ◽  
pp. 775-779
Author(s):  
AP Losada ◽  
M Wessman ◽  
M Tiainen ◽  
AH Hopman ◽  
HF Willard ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Chronic Lymphocytic Leukemia ◽  
Karyotype Analysis ◽  
Cytogenetic Study ◽  
Normal Karyotype ◽  
Lymphocytic Leukemia ◽  
Metaphase Chromosomes ◽  
Interphase Cytogenetics ◽  
Trisomy 12

Interphase cytogenetics by means of in situ hybridization with the chromosome 12-specific biotinylated alpha satellite DNA probe pSP 12–1 was used for the study of trisomy 12, the most common chromosomal abnormality in chronic lymphocytic leukemia. In situ hybridization was performed on methanol/acetic acid fixed cells of conventional cytogenetic preparations from eight patients and on morphologically and immunologically classified cells of cytospin preparations from seven patients. The results show that trisomy 12 is more common than assumed on the basis of karyotype analysis of metaphase chromosomes: 2 of 13 patients with a normal karyotype in G-banding analysis were shown to have trisomy 12 by interphase cytogenetics. Immunophenotyping of the cells of one patient showed that the trisomy was restricted to cells with Ig light chain clonality. For the evaluation of the prognostic, therapeutic, and biologic significance of trisomy 12, in situ hybridization should be used in parallel with karyotype analysis because it allows the study of all cell populations of both interphase and mitotic cells, whether neoplastic or normal.

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