| Autor: |
Trivedi, Pina J., Brahmbhatt, Manisha M., Patel, Dharmesh M., Shukla, Shilin N., Patel, Prabhudas S. |
| Předmět: |
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| Zdroj: |
Journal of the Association of Genetic Technologists; 2014 First Quarter, Vol. 40 Issue 1, p11-15, 5p |
| Abstrakt: |
The translocation (8;21)(q22;q22) is associated with acute myeloblastic leukemia (AML) with M2 subtype. The accurate detection of this chromosomal rearrangement is vital due to its association with a favorable prognosis. Variants of t(8;21)(q22;q22) involving chromosomes 8, 21 and other chromosomes account for approximately 3% of all t(8;21)(q22;q22) in AML. Variants in some cases present as hidden translocations, and in such cases it is often difficult to confirm the presence of t(8;21)(q22;q22) by conventional cytogenetic analysis alone. The molecular detection of the AML1-ETO fusion gene is possible by reverse transcriptase polymerase chain reaction (RT-PCR) or dual-color fluorescence in situ hybridization (FISH) using probes specific for AML1 and ETO. The mechanism described for variant formation is one step or two steps. We report a case of AML with a masked variant translocation. Conventional cytogenetics and FISH study was carried out on a bone marrow sample of the patient at diagnosis. Karyotype result at diagnosis revealed t(8;11l)(q22;p15) by G-banding. FISH analysis disclosed a 3-way translocation involving chromosomes 8, 11, and 21 and identified a masked variant t(8;21)(q22;q22) using AMLI-ETO probe and whole chromosome paint probes (WCP) 8 and 11 with a one-step mechanism. FISH analysis with the AML1 and ETO probes is extremely valuable in cases of AML-M2 because of its ability to reveal masked t(8;21) (q22;q22) translocations and thus quickly confirm the diagnosis, allowing patients to be assigned to the correct risk group in terms of treatment. Simple variants of the t(8;21) translocation involving chromosome 8 and a chromosome other than number 21 are rare. Our case illustrates the challenge of recognizing complex aberrations that occur with variant t(8;21) and further reinforces the utility of FISH applications on metaphase for more accurate characterization of chromosome abnormalities which can lead to more precise therapeutic stratification. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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