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Updated: Aug 11, 2026
FISH for Pre-implantation Genetic Diagnosis
Published on: February 24, 2011
Interphase detection of trisomy 12 in B-cell chronic lymphocytic leukemia by fluorescence hybridization in situ
1Cytogenetics Laboratory, University of Tennessee, Chattanooga 37403.
Insights
Fluorescence in situ hybridization detected trisomy 12 in four of seven B-cell chronic lymphocytic leukemia cases. This method aids in understanding chromosome abnormalities in B-CLL.
Area of Science:
- Genetics
- Oncology
- Molecular Biology
Background:
- B-cell chronic lymphocytic leukemia (B-CLL) is a heterogeneous lymphoproliferative disorder.
- Chromosome abnormalities play a role in B-CLL pathogenesis and prognosis.
- Classic cytogenetic methods can be limited in detecting certain abnormalities.
Purpose of the Study:
- To investigate the utility of fluorescence in situ hybridization (FISH) for detecting trisomy 12 in B-CLL.
- To evaluate the frequency of trisomy 12 in a cohort of B-CLL patients.
- To assess FISH as a complementary diagnostic tool for B-CLL.
Main Methods:
- FISH was performed using a probe specific for the alphoid sequence of the centromeric region of chromosome 12.
- Seven cases of B-CLL were analyzed.
- Interphase nuclei and metaphase spreads were examined for the presence of trisomy 12.
Main Results:
- Trisomy 12 was detected in interphase cells of one case lacking analyzable metaphases.
- Four out of seven B-CLL cases exhibited clear evidence of trisomy 12 in interphase nuclei.
- FISH successfully identified trisomy 12 in cases where conventional cytogenetics was insufficient.
Conclusions:
- FISH is a valuable tool for detecting trisomy 12 in B-CLL, even in cases with poor metaphase quality.
- The findings suggest trisomy 12 is a recurrent abnormality in B-CLL.
- FISH enhances cytogenetic analysis in B-CLL, potentially improving clinical correlation of chromosomal aberrations.
Abstract:
Fluorescence hybridization in situ with a probe specific for the alphoid sequence of the centromeric region of chromosome 12 was used to evaluate seven cases of B-cell chronic lymphocytic leukemia (B-CLL). Trisomy 12 was detected in interphase cells from one case which did not produce analyzable metaphases. Four out of the seven cases studied showed clear evidence of trisomy 12 in interphase nuclei. In situ hybridization provides an important supplement to classic cytogenetic studies of B-CLL and may help refine our understanding of the clinical correlations of chromosome abnormalities.
