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Updated: Jun 15, 2026
Interphase Fluorescence in situ Hybridization of Bone Marrow Smears of Multiple Myeloma
Published on: April 15, 2022
A new reliable fluorescence in situ hybridization method for identifying multiple specific cytogenetic abnormalities
Ana Valencia1, Jose Cervera, Esperanza Such
1Department of Hematology, Hospital Universitario La Fe, 46009 Valencia, Spain.
Insights
The Chromoprobe Multiprobe AML Panel accurately detects chromosomal abnormalities in acute myeloid leukemia (AML). This method is particularly useful for identifying complex genetic alterations and cases with non-evaluable chromosomes.
Area of Science:
- Hematology
- Molecular Genetics
- Cytogenetics
Background:
- Acute myeloid leukemia (AML) diagnosis relies heavily on cytogenetic analysis.
- Detecting specific chromosomal abnormalities is crucial for risk stratification and treatment decisions in AML.
- Conventional cytogenetics can be limited in detecting certain cryptic or complex rearrangements and may fail in cases with poor-quality metaphases.
Purpose of the Study:
- To evaluate the clinical utility of the Chromoprobe Multiprobe AML Panel.
- To compare the diagnostic performance of the panel against conventional cytogenetics in AML patients.
- To assess the panel's ability to detect chromosomal abnormalities in samples with non-evaluable chromosomes.
Main Methods:
- Prospective evaluation of the Chromoprobe Multiprobe AML Panel in 80 AML patients.
- Parallel analysis using conventional cytogenetics.
- Assessment of concordance and detection rates for key AML-associated chromosomal abnormalities.
Main Results:
- High concordance observed between the multiprobe panel and conventional cytogenetics.
- The panel successfully identified cryptic rearrangements, including inv(16)(p13q22), t(15;17)(q22;q21), and CBFbeta deletions, missed by conventional methods.
- In 67% of patients with non-evaluable chromosomes, the panel detected significant abnormalities like MLL rearrangements, monosomy 7, and inv(16)(p13q22).
Conclusions:
- The Chromoprobe Multiprobe AML Panel is a valuable complementary tool for detecting critical chromosomal abnormalities in AML.
- It efficiently analyzes small sample quantities in a single hybridization.
- The panel aids in accurate risk group allocation for AML cases, including those with challenging cytogenetic samples.
Abstract:
The usefulness of the new Chromoprobe Multiprobe AML Panel was evaluated in 80 patients with acute myeloid leukemia (AML) in parallel with conventional cytogenetics. We observed a high concordance using both methods, but the panel was very useful in the detection of an inv(16)(p13q22), a cryptic t(15;17)(q22;q21), and a cryptic deletion of the CBFbeta allele not detected with cytogenetics. Moreover, in six of nine patients (67%) without metaphases or with non-evaluable chromosomes, the panel identified three MLL rearrangements, two monosomy 7, one of them also with del(5q), and one inv(16)(p13q22). Our results indicate that the multiprobe panel can be used as a complementary technique for detection of the most important chromosomal abnormalities in AML using small quantities of sample in only one hybridization experiment. It is also capable of reallocating cases without metaphases or with non-evaluable chromosomes in the appropriate cytogenetic risk group.
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