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 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.

Monoallelic and biallelic inactivation of TP53 gene in chronic lymphocytic leukemia: selection, impact on survival, and response to DNA damage

Blood ◽  
2009 ◽  
Vol 114 (26) ◽  
pp. 5307-5314 ◽  
Author(s):  
Jitka Malcikova ◽  
Jana Smardova ◽  
Ludmila Rocnova ◽  
Boris Tichy ◽  
Petr Kuglik ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Chronic Lymphocytic Leukemia ◽  
Fluorescence In Situ Hybridization ◽  
Tp53 Mutation ◽  
Negative Impact ◽  
Tp53 Gene ◽  
Lymphocytic Leukemia ◽  
Consecutive Series ◽  
Impact On Survival

AbstractDeletion of TP53 gene, under routine assessment by fluorescence in situ hybridization analysis, connects with the worst prognosis in chronic lymphocytic leukemia (CLL). The presence of isolated TP53 mutation (without deletion) is associated with reduced survival in CLL patients. It is unclear how these abnormalities are selected and what their mutual proportion is. We used methodologies with similar sensitivity for the detection of deletions (interphase fluorescence in situ hybridization) and mutations (yeast functional analysis) and analyzed a large consecutive series of 400 CLL patients; a subset of p53–wild-type cases (n = 132) was screened repeatedly during disease course. The most common type of TP53 inactivation, ie, mutation accompanied by deletion of the remaining allele, occurred in 42 patients (10.5%). Among additional defects, the frequency of the isolated TP53 mutation (n = 20; 5%) and the combination of 2 or more mutations on separate alleles (n = 5; 1.3%) greatly exceeded the sole deletion (n = 3; 0.8%). Twelve patients manifested defects during repeated investigation; in all circumstances the defects involved mutation and occurred after therapy. Monoallelic defects had a negative impact on survival and impaired in vitro response to fludarabine. Mutation analysis of the TP53 should be performed before each treatment initiation because novel defects may be selected by previous therapies.

scholarly journals The Prognostic Implication of CD49d Expression by Flow Cytometry and Trisomy 12 Detection by Fluorescent in situ Hybridization in Chronic Lymphocytic Leukemia

2019 ◽  
pp. 1-9
Author(s):  
Eman Mosaad Zaki ◽  
Sahar Abd Allah El-Gammal ◽  
Noha Gaber Sayed ◽  
Mayada Fawzy Sediek ◽  
Asmaa Ahmed Mohamed
Keyword(s):  
Flow Cytometry ◽  
In Situ Hybridization ◽  
Chronic Lymphocytic Leukemia ◽  
Fluorescent In Situ Hybridization ◽  
Disease Free Survival ◽  
Staging System ◽  
Lymphocytic Leukemia ◽  
Positive Correlation ◽  
Disease Free

Chronic lymphocytic leukemia (CLL) is the most common chronic lympho‑proliferative disorder. This study done to detect the level of  cluster of differentiation (CD)49d in CLL patients by flow cytometry and its correlation with the prognosis (survival) and with (trisomy12) detected by fluorescent in situ hybridization (FISH). Methods: Clinico - hematological profiles done to fourty CLL patients. CD49d tested by flow cytometry and trisomy12 was detected by FISH. Results: CLL patients classified according to modified Rai staging system into: low risk 12.5%, intermediate risk 22.5% and high risk 65%. CD49d and trisomy12 positivity were detected in 29 patients (72.5%) and 22 patients (55%), respectively. There was a significant positive correlation between the percentage of trisomy12 and of CD49d cells in CLL patients (P =0.034). And also, between CD49d and CD38 (P =0.034). On the other hand, there was no significant relation between both CD49d and trisomy12 expression and modified Rai staging system. As regard to overall survival (O.S) and disease free survival (DFS), both CD49d, trisomy12 positive cases were associated with shorter disease free, and overall survivals compared to the negative cases. Regarding to the relation between the use of combination of fludarabine, cyclophosphamide, and rituximab (FCR) as a standard treatment in CLL and OS and DFS of patients in our study, we found that FCR account for the better outcome associated with its use. Conclusion: CLL B-cell membrane expression of CD49d as measured by flow cytometry is a powerful prognostic parameter in patients with CLL. Its positive correlation with the trisomy12 and CD38 and the association of both CD49d and trisomy12 with short survival times indicate that they may have roles in the prognosis of CLL.

Detection of t(14;18)(q32;q21) in B-Cell Chronic Lymphocytic Leukemia

2005 ◽  
Vol 129 (3) ◽  
pp. 410-411
Author(s):  
Wolfgang Kern ◽  
Torsten Haferlach ◽  
Susanne Schnittger ◽  
Claudia Schoch
Keyword(s):  
Flow Cytometry ◽  
In Situ Hybridization ◽  
Chronic Lymphocytic Leukemia ◽  
Follicular Lymphoma ◽  
B Cell ◽  
Lymphocytic Leukemia ◽  
Multiparameter Flow Cytometry ◽  
Lymphoma Therapy ◽  
Cell Chronic Lymphocytic Leukemia

Abstract Cytomorphologic testing and multiparameter flow cytometry are the mainstays in diagnosing B-cell chronic lymphocytic leukemia, whereas fluorescence in situ hybridization that targets the translocation t(14;18)(q32;q21) often is used to identify follicular lymphoma. Therapy is highly diverse between both diseases. We describe a case with cytomorphologically and immunologically proven B-cell chronic lymphocytic leukemia in which t(14;18)(q32;q21) was found.

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.

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