Abstract
BackgroundThe translocation t(8;21)(q22;q22) is one of the most frequent chromosomal abnormalities associated with acute myeloid leukemia (AML) sub type M2. About 3–5 % of cases with additional chromosomal abnormalities, including structural and numerical ones, are reported to include a complex translocation t(8;21;N).Case presentationHere we report a chromosome rearrangement observed in a 19 years-old female diagnosed with AML-M2. When subjected to (molecular) cytogenetic analyses a complex three-way translocation involving chromosomes 8, 17 and 21 was detected, forming not a t(8;21;17) as one would expect. Real time-polymerase chain reaction analysis using 6 AML specific markers showed the presence of RUNX1/RUNX1T1 fusion gene transcripts identical to those found in classical translocation t(8;21) coupled with presence of FLT3-ITD mutation identified by fragment analysis.ConclusionsThe present case highlights importance of complex rearrangements rarely encountered in AML, suggesting that all involved regions harbor critical candidate genes regulating the pathogenesis of AML, leading to novel as well as well-known leukemia associated chromosomal aberrations.
Highlights
The translocation t(8;21)(q22;q22) is one of the most frequent chromosomal abnormalities associated with acute myeloid leukemia (AML) sub type M2
The present case highlights importance of complex rearrangements rarely encountered in AML, suggesting that all involved regions harbor critical candidate genes regulating the pathogenesis of AML, leading to novel as well as well-known leukemia associated chromosomal aberrations
Banding cytogenetics and fluorescencein situhybridization (FISH) A BM aspirate collected during initial diagnosis was studied by GTG (Giemsa using trypsin) banding and DNA extraction Genomic DNA was extracted from bone marrow samples using QIAsymphony DNA mini kit, Qiagen according to manufacturer’s instruction
Summary
The translocation t(8;21)(q22;q22) is one of the most frequent chromosomal abnormalities associated with acute myeloid leukemia (AML) sub type M2. When subjected to (molecular) cytogenetic analyses a complex three-way translocation involving chromosomes 8, 17 and 21 was detected, forming not a t(8;21;17) as one would expect. Among cytogenetic rearrangements predictive of most favorable outcomes in AML is the translocation t(8;21)(q22;q22), being detectable in approximately 7–8 % of all AML cases. This translocation results in a fusion gene located. We elucidate a case with novel variant translocation t(8;21) being observed in context of a complex chromosomal rearrangement. To our knowledge, this is the first case reported here for variant three-way t(8;21) involving short arm of chromosome 17. The study suggests that the detailed characterization of RUNX1T1 via cumulative approaches, like cytogenetics, molecular cytogenetics and real time PCR is necessary to unveil complex chromosome rearrangements
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