Detection of combinations of cytogenetic abnormalities in chronic lymphocytic leukemia (CLL) by fluorescent in situ hybridization (FISH) probes.

2010 ◽  
Vol 28 (15_suppl) ◽  
pp. 6591-6591
Author(s):  
M. T. Schweizer ◽  
Y. Zhang ◽  
R. Kunnavakkam ◽  
T. Karrison ◽  
M. M. Le Beau ◽  
...  
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 ◽  
...  

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.


2020 ◽  
pp. 16-16
Author(s):  
M.O. Valchuk ◽  
O.V. Zotova ◽  
A.S. Lukyanova ◽  
O.Ya. Vyhovska ◽  
Yu.S. Karo ◽  
...  

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.


Author(s):  
Eman Mosaad Zaki ◽  
Sahar Abd Allah El-Gammal ◽  
Noha Gaber Sayed ◽  
Mayada Fawzy Sediek ◽  
Asmaa Ahmed Mohamed

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.


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