The value of fluorescence in situ hybridization in the diagnosis and prognosis of chronic lymphocytic leukemia

2005 ◽  
Vol 158 (1) ◽  
pp. 88-91 ◽  
Author(s):  
Armand B. Glassman ◽  
Kimberly J. Hayes
Blood ◽  
1992 ◽  
Vol 79 (7) ◽  
pp. 1796-1801 ◽  
Author(s):  
J Anastasi ◽  
MM Le Beau ◽  
JW Vardiman ◽  
AA Fernald ◽  
RA Larson ◽  
...  

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.


2017 ◽  
Vol 39 (4) ◽  
pp. 388-390
Author(s):  
Maria Eduarda Sanseverino de Lourenço da Motta Zorovich ◽  
Denise Albuquerque Dourado ◽  
Maria de Lourdes Lopes Ferrari Chauffaille

2003 ◽  
Vol 140 (1) ◽  
pp. 31-36 ◽  
Author(s):  
Luisa Doneda ◽  
Marco Montillo ◽  
Liliana Intropido ◽  
Alessandra Tedeschi ◽  
Enrica Morra ◽  
...  

Blood ◽  
1993 ◽  
Vol 82 (2) ◽  
pp. 571-575 ◽  
Author(s):  
TH Que ◽  
JG Marco ◽  
J Ellis ◽  
E Matutes ◽  
VB Babapulle ◽  
...  

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.


2017 ◽  
Vol 35 (15_suppl) ◽  
pp. 7526-7526 ◽  
Author(s):  
Ahmad Sami Halwani ◽  
Zachary Burningham ◽  
Kelli Marie Rasmussen ◽  
Vikas Patil ◽  
Clarke Alan Low ◽  
...  

7526 Background: The presence of deletion 17p (del17), determined by chromosome analysis and/or fluorescence in situ hybridization (FISH), is a strong negative prognostic marker in chronic lymphocytic leukemia (CLL). Prior to the introduction of novel agents (ibrutinib, venetoclax), the clinical utility of cytogenetics/FISH was limited by the absence of chemoimmunotherapy regimens that were proven effective in patients with del17. Testing practices for chromosomal aberrations since the introduction of novel agents have not been reported. We report cytogenetic/FISH trends in a nationwide cohort of veterans diagnosed with CLL. Methods: CLL patients diagnosed 2008-2015 and receiving care at VA were identified through the VA Clinical Cancer Registry. Electronic medical records were used to determine cytogenetic/FISH testing (lab records), treatment histories (pharmacy dispensation records), and evidence of system use (heme-onc notes). Cytogenetic/FISH testing was identified by presence of specific keywords in the test name or Logical Observation Identifiers Names and Codes (LOINC) descriptions, then validated by human annotation. The testing rates are reported for the entire cohort, at time of diagnosis, time of regimen initiation (including the 12 months preceding initiation), during the novel era (2014 – 2015) and prior (2008–2013). Results: From 2008 to 2015, 3,638 CLL patients were diagnosed and received care at VA. Documented records of treatment regimens were available for 1,562 patients who received a total of 2,929 treatment regimens. Only 24% (998) of patients were tested at any point in time during their care at the VA, 17% (622) were tested at time of diagnosis, and 19% (542) of treatment courses were preceded by cytogenetic/FISH testing. No testing differences existed following the introduction of the novel agents at diagnosis (both ~ 17%), or prior to regimen initiation (20% vs 16%). Conclusions: Our study suggests CLL patients diagnosed and receiving care at the VA are not routinely undergoing cytogenetics/FISH testing at diagnosis or prior to treatment. Changing this practice pattern will personalize treatments so that del17 CLL patients receive less toxic and more effective therapies.


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